queryId subjectDb subjectId identity queryAlnBegin queryAlnEnd sujectAlnBegin subjectAlnEnd subjectDescription evalue bits subjectSite subjectSiteRange subjectSiteSeq querySiteRange querySiteSeq pubMedIds N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 14 F 21 Y N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 17 F 25 F N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 39 N 47 N N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 40 G 48 G N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 42 G 50 G N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 43 K 51 K N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 44 T 52 T N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 45 T 53 T N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 135 T 141 T N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 136 F 142 L N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 4yer:A 39.1 12 268 5 261 Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution 2e-43 174 binding adenosine-5'-diphosphate 137 S 143 S N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 633 F 21 Y 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 640 A 27 A 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 660 N 47 N 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 661 G 48 G 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 663 G 50 G 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 664 K 51 K 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 665 T 52 T 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 666 T 53 T 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 607 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 608 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 1507 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 1514 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 1535 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 1536 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 1537 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 1538 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8ee6:A 34.5 1 311 612 932 Cryo-em structure of human abca7 in pe/ch nanodiscs 4e-34 143 binding phosphothiophosphoric acid-adenylate ester 1539 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA2_HUMAN 34.7 1 219 979 1199 ATP-binding cassette sub-family A member 2; ATP-binding cassette transporter 2; ATP-binding cassette 2; EC 7.6.2.- from Homo sapiens (Human) 3e-33 140 modified: N5-methylglutamine; Q→R: Abolishes methylation by N6AMT1. 271 26797129 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 763 Y 21 Y 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 765 D 23 G 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 768 K 26 Q 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 790 N 47 N 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 791 G 48 G 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 793 G 50 G 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 794 K 51 K 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 795 T 52 T 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 835 Q 92 Q 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 887 Q 141 T 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 889 S 143 S 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 944 H 199 H 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding magnesium ion 835 Q 92 Q 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding magnesium ion 912 D 166 D 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding magnesium ion 913 Q 167 E 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1630 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1633 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1657 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1658 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1660 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1661 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1662 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1663 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1702 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1753 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1755 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1756 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1757 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1779 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1783 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding adenosine-5'-triphosphate 1811 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding cholesterol 218 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding cholesterol 219 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding cholesterol 360 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding cholesterol 367 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding magnesium ion 1662 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tbw:A 30.8 11 310 753 1046 The structure of atp-bound abca1 6e-33 139 binding magnesium ion 1702 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 659 F 21 Y 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 662 S 24 G 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 666 A 27 A 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 686 N 47 N 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 687 G 48 G 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 689 G 50 G 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 690 K 51 K 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 691 T 52 T 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 692 T 53 T 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 782 H 141 T 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 784 S 143 S 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1461 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1488 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1489 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1491 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1492 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1494 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1533 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1584 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding adenosine-5'-triphosphate 1586 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding magnesium ion 1493 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8eop:A 39.0 7 219 646 859 Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state 1e-32 138 binding magnesium ion 1533 36484366 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7roq:A 30.3 1 310 768 1079 Alternative structure of human abca1 2e-32 138 binding cholesterol 688 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7roq:A 30.3 1 310 768 1079 Alternative structure of human abca1 2e-32 138 binding cholesterol 1106 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7roq:A 30.3 1 310 768 1079 Alternative structure of human abca1 2e-32 138 binding cholesterol 1426 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7roq:A 30.3 1 310 768 1079 Alternative structure of human abca1 2e-32 138 binding cholesterol 1526 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7roq:A 30.3 1 310 768 1079 Alternative structure of human abca1 2e-32 138 binding cholesterol 1527 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 to Y: in a colorectal cancer sample; somatic mutation 917 D 29 K 16959974 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 to I: in TGD; moderately decreased protein abundance; highly... 929 T 41 F 11086027,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 to S: in TGD; moderately decreased protein abundance; highly... 935 N 47 N 10431237,12111381,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 mutation to M: Inhibits ATPase activity; when associated with... 939 K 51 K 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: Phosphoserine; by PKA 1042 S 151 L 12196520 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 natural variant: P -> S 1065 P 174 V 15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 to T: in FHA1; loss of localization to plasma... 1091 M 201 I 10533863,11086027,19556522 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3,... 1110 C 220 I 19556522 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3,... 1111 C 221 L 19556522 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to... 3 19556522 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to... 23 19556522 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 I→C: 85-90% reduction in phospholipid and cholesterol efflux but...; I→K: 85-90% reduction in phospholipid and cholesterol efflux but... 74 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: Disulfide link with 309 75 19258317 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 P → L: in FHA1; Alabama; dbSNP:rs145183203 85 12204794 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: carbohydrate, N-linked (GlcNAc...) asparagine 98 19159218 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 S→C: Highly decreased protein abundance. Highly decreased ATPase activity.... 100 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 E → D: in a colorectal cancer sample; somatic... 210 16959974 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → K: in dbSNP:rs2230806 219 10938021,11238261,11257261,11476965,12624133,12966036,15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → C: in dbSNP:rs9282541 230 10938021,27535533 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: carbohydrate, N-linked (GlcNAc...) asparagine 244 19159218 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 P → A: in dbSNP:rs142625938 248 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 A → T: in TGD; deficient cellular cholesterol efflux;... 255 11785958 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 V→C: No effect on phospholipid and cholesterol efflux or... 304 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 V→C: No effect on phospholipid and cholesterol efflux or... 308 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: Disulfide link with 75 309 19258317 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 S → C: in dbSNP:rs775035559 364 15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 I→C: No effect on phospholipid and cholesterol efflux or...; I→E: 85-90% reduction in phospholipid and cholesterol efflux but... 371 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 L→C: 85-90% reduction in phospholipid and cholesterol efflux but... 375 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 V → A: in dbSNP:rs9282543 399 10431237,11238261 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 K → Q: in dbSNP:rs138487227 401 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → W: in dbSNP:rs147675550 496 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 K→A: 60-65% reduction in phospholipid and cholesterol efflux but... 568 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 Y→F: No effect on phospholipid and cholesterol efflux and... 573 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 D→K: 80-85% reduction in phospholipid and cholesterol efflux but... 581 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 F→K: 90-95% reduction in phospholipid and cholesterol efflux but... 583 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 E→K: 80-85% reduction in phospholipid and cholesterol efflux but... 584 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 D→K: 80-85% reduction in phospholipid and cholesterol efflux but... 585 35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 W → S: in TGD; moderately decreased protein abundance;...; W→E: 90-95% reduction in phospholipid and cholesterol efflux but... 590 10431237,15297675,24097981,35974019 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 F→L: Moderately decreased protein abundance. Highly decreased ATPase activity.... 593 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → Q: in dbSNP:rs374190304 638 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 V → M: in dbSNP:rs2066718 771 11238261,12966036,15262183,15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 T → P: in dbSNP:rs35819696; natural variant: T -> S 774 11238261,15297675,15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 K → N: in dbSNP:rs138880920 776 11238261,15520867,16226177 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 E → G: in dbSNP:rs145582736 815 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 V → I: in dbSNP:rs2066715 825 10938021,11238261,12709788,12966036,15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 I → M: in dbSNP:rs2066714 883 10431237,10938021,11238261,11257261,12709788,12966036,15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 E → D: in dbSNP:rs33918808 1172 11238261,11257261,12966036,15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 S → F: in dbSNP:rs76881554 1181 12966036,15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 G → V: in dbSNP:rs562403512 1216 15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → T: in dbSNP:rs147743782 1341 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 S → G: in dbSNP:rs145689805 1376 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 L → F: in TGD; the mutant protein is... 1379 15158913 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 A → T: in a colorectal cancer sample; somatic... 1407 16959974 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: Disulfide link with 1477 1463 19258317 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: Disulfide link with 1463; C → R: in TGD; loss of interaction with... 1477 10431236,11086027,14754908,19258317,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 T→M: Moderately decreased protein abundance. Does not affect ATPase... 1512 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 I → T: in dbSNP:rs1997618 1555 10092505,10431238 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 K → R: in dbSNP:rs2230808 1587 10092505,10431238,10884428,10938021,11238261,11352567,12966036,15520867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 N → D: in FHA1; deficient cellular cholesterol efflux 1611 11785958 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → Q: in dbSNP:rs1251839800 1615 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 L → P: in dbSNP:rs1883024 1648 10092505,10431238 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 A → T: in dbSNP:rs1203589782 1670 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → Q: in dbSNP:rs150125857 1680 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 V → D: in TGD; the mutant protein is... 1704 15158913 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 S → C: in dbSNP:rs760507032 1731 11238261 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → W: in FHA1; uncertain significance; dbSNP:rs760768125 1897 15722566 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → Q: in Scott syndrome; shows impaired trafficking... 1925 15790791 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 K→M: Inhibits ATPase activity; when associated with M-939. Decreases... 1952 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 modified: Phosphoserine; by PKA 2054 12196520 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 R → W: in TGD; highly decreased protein abundance;... 2081 11476965,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 A → T: in a colorectal cancer sample; somatic... 2109 16959974 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 P → L: in FHA1; moderately decreased protein abundance;... 2150 11086027,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 natural variant: F -> S 2163 15262183 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 L → P: in dbSNP:rs2853577 2168 10092505,10431238,11257260 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 D → E: in dbSNP:rs34879708 2243 15297675 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_HUMAN 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) 2e-31 135 V → I: in dbSNP:rs144588452 2244 15262183 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tby:A 30.2 1 310 680 982 The structure of human abca1 in nanodisc 2e-31 134 binding cholesterol 161 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7tby:A 30.2 1 310 680 982 The structure of human abca1 in nanodisc 2e-31 134 binding cholesterol 162 37181814 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt CED7_CAEEL 35.8 12 237 546 773 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans 3e-31 134 mutation to R: Cell corpses not engulfed. 586 K 51 K 9635425 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt CED7_CAEEL 35.8 12 237 546 773 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans 3e-31 134 mutation to G: Cell corpses not engulfed. 639 E 104 A 9635425 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt CED7_CAEEL 35.8 12 237 546 773 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans 3e-31 134 modified: carbohydrate, N-linked (GlcNAc...) asparagine 126 17761667 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt CED7_CAEEL 35.8 12 237 546 773 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans 3e-31 134 modified: carbohydrate, N-linked (GlcNAc...) asparagine 1012 17761667 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt CED7_CAEEL 35.8 12 237 546 773 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans 3e-31 134 modified: carbohydrate, N-linked (GlcNAc...) asparagine 1045 17761667 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt CED7_CAEEL 35.8 12 237 546 773 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans 3e-31 134 K→R: Some cell corpses not engulfed. 1417 9635425 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA1_MOUSE 33.1 1 233 888 1123 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; EC 7.6.2.1 from Mus musculus (Mouse) 5e-31 133 modified: carbohydrate, N-linked (GlcNAc...) asparagine 489 19349973 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCAC_MOUSE 32.6 11 219 1345 1555 Glucosylceramide transporter ABCA12; ATP-binding cassette sub-family A member 12; EC 7.6.2.1 from Mus musculus (Mouse) 1e-30 132 mutation to M: In a mouse model for harlequin... 1388..1461 ISMLTGLFGATAGTIFVYGKDIKTDLNTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPH--WTKTQLHEEVKR 55..124 ISIICGIVKPSAGTVSADGHDVLRDYRLTRAKIGLVPQE------LSTDAFETVWAAVRFSRGLFGRARDDRHIEK 27551807 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCAC_MOUSE 32.6 11 219 1345 1555 Glucosylceramide transporter ABCA12; ATP-binding cassette sub-family A member 12; EC 7.6.2.1 from Mus musculus (Mouse) 1e-30 132 G→D: In a mouse model for harlequin ichthyosis (HI),... 1996 18802465 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 757 N 47 N N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 758 G 48 G N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 760 G 50 G N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 761 K 51 K N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 762 T 52 T N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 763 T 53 T N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 802 Q 92 Q N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 853 D 141 T N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding magnesium ion 762 T 52 T N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding magnesium ion 802 Q 92 Q N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1652 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1653 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1654 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1655 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1656 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1657 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1697 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1748 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding phosphoaminophosphonic acid-adenylate ester 1750 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding magnesium ion 1657 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 8f5b:A 33.0 11 219 720 930 Human abca4 structure in complex with amp-pnp 4e-30 130 binding magnesium ion 1697 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 mutation to R: Decreases 11-cis-Retinal binding affinity by 50%. 940 P 23 G 23144455 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to Q: risk factor for STGD1; risk factor for...; to W: in STGD1 and FFM; dbSNP:rs61749446 943 R 25 F 10634594,10746567,10958763,11379881,11385708,11527935,11594993,15192030,23143460,23144455,23419329,9054934,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to D: in STGD1; uncertain significance; dbSNP:rs61749447 954 Y 36 R 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to I: in STGD1; moderately decreased protein abundance; highly... 959 T 41 F 10958763,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 binding 963..970 GHNGAGKT 45..52 GPNGAGKT 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to S: in STGD1; reduced retinal-stimulated ATP hydrolysis; moderately...; to Y: in STGD1; uncertain significance 965 N 47 N 10746567,15192030,18977788,19265867,22735453,23419329,24097981,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 mutation to D: Abolishes basal and retinal-stimulated ATP hydrolysis. 966 G 48 G 11017087 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 mutation to M: Abolishes basal and retinal-stimulated ATP hydrolysis.; mutation to M: Inhibits ATPase activity; when associated with... 969 K 51 K 11017087,22735453,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to P: in STGD1; uncertain significance; dbSNP:rs1570377849 970 T 52 T 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to N: in STGD1; highly reduced ATP-binding capacity; abolishes... 971 T 53 T 11328725 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to N: in STGD1; uncertain significance; dbSNP:rs61749451 972 T 54 L 11594993 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to S: in STGD1; uncertain significance 973 L 55 I 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to P: in STGD1; uncertain significance 977 T 59 C 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to D: in STGD1; uncertain significance; dbSNP:rs61749453 978 G 60 G 15192030,19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to R: in FFM and STGD1; dbSNP:rs61749455 991 G 73 G 11379881,23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to G: in STGD1; uncertain significance; to K: in STGD1; uncertain significance; dbSNP:rs61749459 1022 E 104 A 15192030,23143460,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to V: in STGD1, FFM and CORD3; frequent mutation;... 1038 A 120 R 10206579,10711710,10746567,10958761,10958763,11379881,11527935,15192030,19265867,24457364,25346251,29847635,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to D: in STGD1; uncertain significance; dbSNP:rs61750062 1050 G 130 S 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 binding 1054 K 134 K 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065 1071 S 151 L 9973280 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to L: in STGD1; uncertain significance 1074 I 154 K 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to E: in STGD1; uncertain significance 1078 G 158 H 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 mutation to Q: Does not affect protein folding; when... 1087 E 167 E 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to E: in FFM and STGD1; decreases solubilized at... 1091 G 171 G 29847635,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to T: in STGD1; uncertain significance 1094 P 174 V 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to S: in STGD1; uncertain significance 1097 R 177 R 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to C: in STGD1; uncertain significance; dbSNP:rs756840095 1098 R 178 H 15192030,19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to P: in STGD1; uncertain significance; dbSNP:rs61750119 1099 S 179 D 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to Y: in dbSNP:rs138641544 1102 D 182 E 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to C: in STGD1 and FFM; reduced ATP-binding capacity;... 1108 R 188 R 10206579,10958763,11379881,11527935,15192030,19265867,23143460,24457364,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to K: in STGD1 and CORD3; dbSNP:rs61751399 1122 E 203 E 10958761,11527935,23143460,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to C: in STGD1; may predispose to develop retinal...; to L: in ARMD2 and STGD1; also found in... 1129 R 210 R 11384574,15192030,18977788,19028736,23143460,23419329,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 to T: in STGD1; uncertain significance; dbSNP:rs1064793010 1130 I 211 V 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 N → K: in STGD1; uncertain significance 14 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → P: in STGD1; uncertain significance 18 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 21..2273 11..219 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → H: in STGD1; uncertain significance; dbSNP:rs62645958 24 23419329,25346251,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs764744217) 53..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 81 54 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 H → R: in CORD3; uncertain significance 55 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → P: in CORD3; uncertain significance 63 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → E: in STGD1 and CORD3; dbSNP:rs62654395 65 10958761,10958763,11527935,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → R: in STGD1; does not affect intracellular...; G → V: in STGD1; uncertain significance 72 10958763,26780318,29847635 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 324 75 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 54 81 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 89..2273 11..219 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 N → H: in STGD1; uncertain significance; dbSNP:rs61748529; N → K: in STGD1; uncertain significance; dbSNP:rs886039297 96 10634594,15192030,19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Y → C: in STGD1; uncertain significance; dbSNP:rs755691060 97 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine 98 11320094,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → P: in STGD1; highly decreased protein abundance;... 100 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs765429911) 107..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 D → V: in STGD1; uncertain significance 108 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → L: in STGD1; uncertain significance; dbSNP:rs62646860 143 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → S: in STGD1; uncertain significance; dbSNP:rs61748532 172 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → F: in STGD1; uncertain significance; S → R: in STGD1; uncertain significance 184 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 185..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → R: in STGD1; reduced basal and retinal-stimulated... 206 10206579 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: in STGD1 and CORD3; common mutation...; R → H: in dbSNP:rs6657239 212 10711710,10958761,10958763,11379881,11384574,11385708,11527935,15192030,18977788,19265867,23143460,23419329,24457364,9503029,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in CORD3; uncertain significance) 218..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (found in a patient with chorioretinal... 219..2273 11..219 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 K → Q: in STGD1; uncertain significance; dbSNP:rs147619585 223 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → M: in a breast cancer sample; somatic... 224 16959974 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 I → R: in STGD1; uncertain significance; dbSNP:rs1553195472 240 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 E → D: in STGD1; uncertain significance 241 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 245..2273 11..219 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → T: in STGD1; uncertain significance 246 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → W: in STGD1; uncertain significance; dbSNP:rs781716640 290 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → L: in STGD1; uncertain significance; dbSNP:rs190540405 291 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → C: in CORD3; uncertain significance 320 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 75 324 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs747540967) 326..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in CORD3; uncertain significance) 339..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Y → S: in STGD1; uncertain significance 345 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 519 370 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → V: in STGD1 and CORD3; dbSNP:rs61751264 407 10634594 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 I → T: in STGD1; uncertain significance 410 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → K: in STGD1; uncertain significance 415 11320094,19265867,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 F → S: in STGD1; uncertain significance; dbSNP:rs794726979 418 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 H → R: in dbSNP:rs3112831 423 10958763,11379881,11384574,11527935,12111378,15192030,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → A: in STGD1 and RP19; uncertain significance 424 10634594 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 431..2273 11..219 25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Y → C: in CORD3; uncertain significance; dbSNP:rs770439859 440 25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine 444 11320094,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → M: in RP19; uncertain significance; dbSNP:rs764170051 455 25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 E → K: in ARMD2 and STGD1; uncertain significance;... 471 10958763,23143460,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 D → E: in STGD1; uncertain significance 498 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine 504 11320094,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: in STGD1; uncertain significance; dbSNP:rs138157885 508 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: in STGD1; uncertain significance; dbSNP:rs752786160 511 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 370; C → R: in STGD1; uncertain significance; dbSNP:rs1224959251 519 26780318,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 533..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → P: in STGD1, FFM and CORD3; reduced... 541 10206579,10958761,10958763,11527935,15192030,19265867,24457364,25346251,29847635,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 W → R: in STGD1; uncertain significance 548 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → I: in RP19; uncertain significance; dbSNP:rs145525174 552 10958763,19028736,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 572..2273 11..219 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 D → H: found in a patient with pattern... 576 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → L: in STGD1; uncertain significance 593 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Y → C: in STGD1; uncertain significance 603 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in CORD3; uncertain significance) 605..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 F → I: in STGD1; moderately decreased protein abundance;... 608 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 E → K: in STGD1; uncertain significance; dbSNP:rs1557787473 616 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Q → K: in CORD3; uncertain significance 636 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 639..2273 11..219 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → L: in STGD1; uncertain significance; dbSNP:rs760790294 640 24457364 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 1490, Interchain; C → S: in STGD1; uncertain significance; dbSNP:rs61749416 641 15192030,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → G: in CORD3; uncertain significance; dbSNP:rs61754024 643 25346251,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: in STGD1; does not affect solubility;...; R → H: in STGD1; uncertain significance; does not... 653 10958763,15192030,18977788,19265867,23143460,25346251,26780318,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → R: in CORD3; uncertain significance; severely decreases... 661 26780318,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (found in a patient with macular... 681..2273 11..219 25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → S: in STGD1; severely decreases solubility; loss... 686 11385708,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → V: in STGD1; uncertain significance; severely decreases... 690 15192030,19265867,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 700..2273 11..219 15192030,19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → M: in STGD1; does not affect solubility;... 716 33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 F → S: in STGD1; uncertain significance 754 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 C → Y: in STGD1; does not affect solubility;... 764 10958763,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → N: in STGD1; severely decreases solubility; loss...; S → R: in STGD1; severely decreases solubility; loss... 765 10958763,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → D: in STGD1; also found in a... 767 10711710,11527935,15192030,18977788,19265867,24457364,25346251,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 779..2273 11..219 10634594 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 782..2273 11..219 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → P: in STGD1; severely decreases solubility; loss... 797 11527935,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 808..2273 11..219 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → V: in STGD1; uncertain significance 816 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → E: in STGD1; reduced ATP-binding capacity; moderately... 818 23419329,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 W → R: in STGD1; moderately decreases solubility; loss... 821 11527935,15192030,19265867,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 I → T: in STGD1; moderately decreases solubility; loss... 824 11527935,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 M → R: in STGD1; uncertain significance; severely decreases... 840 19265867,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 D → H: severely decreases solubility; loss of cytoplasmic... 846 33375396,9054934,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → A: in STGD1; does not affect solubility;... 849 10206579,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → D: in STGD1; highly reduced ATP-binding capacity;... 851 33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → T: in STGD1; does not affect solubility;... 854 33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → A: in STGD1, FFM and CORD3; also...; natural variant: Missing (in STGD1 and CORD3; reduced ATP-binding... 863 10612508,10634594,10746567,10958761,11379881,11527935,15192030,22735453,23143460,23144455,25346251,30120214,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 876..2273 11..219 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → A: in dbSNP:rs61754030 901 10958763,18977788 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: H -> R 914 10958763 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1029..2273 111..219 25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1099..2273 179..219 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 C → W: in STGD1; uncertain significance 1140 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → H: in CORD3; uncertain significance 1145 25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: K -> T 1148 11379881 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → S: in STGD1; uncertain significance; dbSNP:rs1340749727 1159 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → H: in STGD1; uncertain significance; dbSNP:rs768278935 1161 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1177..2273 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → C: in CORD3; uncertain significance; dbSNP:rs75267647 1183 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → R: in STGD1; may predispose to develop... 1201 11384574,11527935,23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → E: in CORD3; uncertain significance; dbSNP:rs146786552; G → R: in STGD1; uncertain significance 1203 15192030,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 D → N: in STGD1; uncertain significance; dbSNP:rs61750127 1204 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 M → T: in dbSNP:rs76258939 1209 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → M: in FFM; uncertain significance; dbSNP:rs61752424 1253 11385708 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → Q: in STGD1; uncertain significance; dbSNP:rs61750129 1300 11527935,15192030,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs61752427) 1300..2273 15192030,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → T: in dbSNP:rs61754041 1314 11328725 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1332..2273 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A→T: Decreases solubility at 50%. Loss of intracellular vesicle... 1357 29847635 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: in CORD3; uncertain significance; dbSNP:rs1183074086 1368 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 K → N: in STGD1; uncertain significance 1371 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → L: in STGD1; also found in a... 1380 10958763,11527935,15192030,18977788,19265867,23143460,23419329,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 E → K: in STGD1; does not affect solubility;... 1399 10711710,10958763,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 W → L: in STGD1; does not affect secondary...; W → R: in STGD1; reduced retinal-stimulated ATP hydrolysis;... 1408 10206579,11527935,20404325,24457364 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1408..2273 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1416 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → M: in dbSNP:rs1800549 1428 26780318,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 N → K: in STGD1; uncertain significance; dbSNP:rs762150575 1442 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → H: in STGD1; loss of the majority... 1443 10958763,20404325,23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 1455 1444 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1453..2273 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 1444 1455 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1461..2273 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine 1469 11320094,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1 and CORD3; uncertain significance;... 1479..2273 19265867,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → S: in STGD1; uncertain significance 1484 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 1502; C → R: in STGD1 and FFM; also found... 1488 10206579,11379881,11527935,20404325,23143460,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 641, Interchain; C → Y: in STGD1 and CORD3; reduced retinal-stimulated... 1490 10958761,11527935,15192030,18977788,23143460,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: Disulfide link with 1488; C→R: Moderately decreased protein abundance. Moderately decreased ATPase activity.... 1502 24097981,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → L: in STGD1; uncertain significance 1503 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → H: in STGD1; uncertain significance; dbSNP:rs886046564 1511 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → R: in STGD1; uncertain significance; dbSNP:rs61750150 1512 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → M: in STGD1; also found in a... 1526 11527935,15192030,19265867,23143460,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine 1529 11320094,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → M: in STGD1; moderately decreased protein abundance;... 1537 10958763,24097981,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1551 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → T: in STGD1; uncertain significance 1556 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Y → C: found in a patient with chorioretinal... 1557 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 I → T: in STGD1, FFM, ARMD2 and CORD3;... 1562 10958763,11379881,11527935,23143460,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → M: in dbSNP:rs185093512 1572 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine 1588 11320094,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → R: in STGD1; uncertain significance; also found... 1591 25346251,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → D: in CORD3 and STGD1; uncertain significance;... 1598 10958761,15192030,19265867,23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing 1618..2273 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → V: in dbSNP:rs1571257969 1623 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → T: in dbSNP:rs61754056 1637 11527935 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → Q: in STGD1, FFM and CORD3; dbSNP:rs61751403; R → W: in STGD1 and CORD3; dbSNP:rs61751404 1640 10634594,10711710,11379881,11527935,18977788,24457364,25346251,26780318,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in CORD3; uncertain significance) 1650..2273 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1 and FFM; uncertain significance) 1652..2273 15192030,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 modified: carbohydrate, N-linked (GlcNAc...) asparagine 1662 11320094,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity) 1681..1685 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → N: in STGD1; uncertain significance; does not... 1696 19265867,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Q → E: in STGD1; uncertain significance; does not...; Q → K: in STGD1; moderately decreases solubility; loss... 1703 10634594,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → L: in STGD1; moderately decreases solubility; loss...; R → Q: in STGD1; uncertain significance; dbSNP:rs61753021 1705 10958763,23419329,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1724..2273 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Y → D: in STGD1; uncertain significance 1754 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity) 1761..1763 9973280 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → D: in STGD1; uncertain significance; dbSNP:rs121909206 1762 15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → E: found in a patient with chorioretinal...; A → V: in STGD1; uncertain significance; severely decreases... 1773 23143460,23419329,26780318,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 I → N: in STGD1; uncertain significance; dbSNP:rs771742619 1775 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Y → H: in STGD1; uncertain significance 1779 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance) 1779..2273 10634594 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → D: in STGD1; also found in a...; A → P: in STGD1; uncertain significance; loss of... 1794 23143460,29847635,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 N → D: in STGD1; does not affect solubility;... 1805 11385708,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: E -> D 1817 9054934,9503029 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 H → D: in STGD1; uncertain significance; moderately decreases...; H → N: in STGD1; uncertain significance; does not...; H → Y: in STGD1; moderately decreases solubility; loss...; H→R: Severely decreases solubility. Loss of cytoplasmic vesicle localization.... 1838 15192030,24457364,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → W: in STGD1; does not affect solubility;... 1843 26780318,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 N → I: risk factor for STGD1; slightly reduced... 1868 10958763,11379881,11384574,11527935,11594993,15192030,23419329,26780318,30120214,33375396 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 M → I: in CORD3; uncertain significance; dbSNP:rs752160946 1882 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → E: in STGD1; highly reduced ATP-binding capacity;... 1886 9973280 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: does not affect solubility; does not...; R → H: in STGD1 and ARMD2; does not... 1898 10746567,10958763,25346251,33375396,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → G: in STGD1; uncertain significance 1921 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → P: in STGD1 and FFM; dbSNP:rs61753033 1940 11385708,18977788 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 E → Q: in STGD1; uncertain significance; dbSNP:rs760353830 1942 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → L: in dbSNP:rs56142141; natural variant: P -> S 1948 10634594,10958763,11385708,11527935,11594993,15192030 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → E: in STGD1, FFM and CORD3; risk...; G → R: in STGD1; uncertain significance; dbSNP:rs142253670 1961 10206579,10711710,10880298,10958763,11346402,11527935,15192030,18977788,19265867,23143460,24457364,25346251,26780318,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → F: in ARMD2, FFM and STGD1; also... 1970 10958763,15192030,19265867,25346251,9295268,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → R: in FFM; highly reduced ATP-binding capacity;... 1971 9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 binding 1972..1980 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G→D: Inhibition of retinal-stimulated ATP hydrolysis. 1975 11017087 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → S: in STGD1 and ARMD2; highly reduced... 1977 10958763,11527935,18977788,19028736,19265867,26780318,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 K→M: Inhibits ATPase activity; when associated with M-969. Decreases... 1978 11017087,22735453,24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 C → Y: in STGD1; uncertain significance 2017 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 I → T: in STGD1; uncertain significance; dbSNP:rs150633517 2023 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → F: in STGD1 and FFM; also found... 2027 11379881,11527935,15192030,18977788,23143460,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → Q: in STGD1 and FFM; dbSNP:rs61750641 2030 11379881,11527935,15192030,23143460,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1 and CORD3; uncertain significance;... 2030..2273 10634594,19265867,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 H → R: in STGD1; uncertain significance; dbSNP:rs1242866408 2032 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → R: in STGD1; uncertain significance; dbSNP:rs1553186896 2033 25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → W: in STGD1; highly reduced ATP-binding capacity;... 2038 10206579,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → Q: in STGD1; uncertain significance; dbSNP:rs148460146 2040 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: Missing (in STGD1; uncertain significance; also found... 2040..2273 23143460,26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → G: in STGD1; uncertain significance 2042 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → S: in CORD3; uncertain significance; dbSNP:rs763230559 2043 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 V → L: in STGD1 and CORD3; may act... 2050 11527935,15192030,20335603,25346251 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 natural variant: G -> A 2059 10958763 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → T: in STGD1; uncertain significance; dbSNP:rs61753040 2064 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 binding 2073..2074 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 G → V: in STGD1; uncertain significance; dbSNP:rs367839100 2074 23419329 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → W: in STGD1; highly reduced ATP-binding capacity;... 2077 10206579,10958763,29847635 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 K → E: in STGD1; uncertain significance 2078 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 E → K: in STGD1; inhibition of ATP hydrolysis...; E→Q: Does not affect protein folding; when associated with... 2096 19265867,33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P → S: in STGD1; uncertain significance; dbSNP:rs1166357291 2097 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: in STGD1 and FFM; reduced ATP-binding... 2106 11379881,23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 R → C: in STGD1; uncertain significance; dbSNP:rs2297669; R → H: in STGD1 and CORD3; may predispose...; R→P: Highly decreased protein abundance. Highly decreased ATPase activity.... 2107 10206579,11384574,11385708,11527935,15192030,18977788,23143460,24097981,24457364,26780318,9781034 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 E → K: in STGD1; uncertain significance; dbSNP:rs61750652 2131 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → Q: in STGD1; uncertain significance; dbSNP:rs774475956 2140 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 C → Y: in STGD1 and CORD3; dbSNP:rs61751384 2150 10206579,10634594,11527935,15192030,18977788,23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 D → N: in CORD3, ARMD2 and STGD1; uncertain... 2177 10880298,10958763,11346402,15192030,25346251,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 P→L: Does not affect protein abundance. Does not affect... 2180 24097981 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 F → S: in STGD1; uncertain significance; dbSNP:rs61750658 2188 26780318 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 A → V: in dbSNP:rs886044763 2216 10958763 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 L → P: in STGD1; uncertain significance 2221 19265867 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 T → P: in STGD1; uncertain significance 2237 23143460 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 Essential for ATP binding and ATPase activity 2244..2249 31481235 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_HUMAN 33.0 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) 4e-30 130 S → I: in dbSNP:rs6666652 2255 11379881,11384574,11385708,23419329,26780318,9295268 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: carbohydrate, N-linked (Hex...) asparagine 415 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: carbohydrate, N-linked (Hex...) asparagine 504 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: Phosphothreonine; T→A: Decreases expression level. Affects subcellular location. 901 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: Phosphoserine; S→A: Does not affect subcellular location. Does not affect... 1185 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 Cleavage; by trypsin 1309 9092582 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: Phosphothreonine; T→A: Does not affect subcellular location. Does not affect... 1313 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: Phosphoserine; S→A: Does not affect subcellular location. Does not affect... 1317 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: Phosphoserine 1319 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: carbohydrate, N-linked (Hex...) asparagine 1455 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: carbohydrate, N-linked (Hex...) asparagine 1527 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA4_BOVIN 33.5 11 219 928 1138 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) 6e-30 129 modified: carbohydrate, N-linked (Hex...) asparagine 1660 21721517 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein SwissProt ABCA3_MOUSE 31.5 12 254 530 775 Phospholipid-transporting ATPase ABCA3; ATP-binding cassette sub-family A member 3; Xenobiotic-transporting ATPase ABCA3; EC 7.6.2.1; EC 7.6.2.2 from Mus musculus (Mouse) 8e-30 129 E→V: Knockin new born mice are healthy and survive... 292 28034695 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 14 F 21 Y 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 18 V 25 F 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 20 A 27 A 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 40 N 47 N 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 41 G 48 G 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 43 G 50 G 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 44 K 51 K 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 45 S 52 T 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 46 T 53 T 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 88 Q 92 Q 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 139 H 140 M 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 140 M 141 T 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 141 L 142 L 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 142 S 143 S 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 144 G 145 G 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 145 Q 146 M 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 166 Q 167 E 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding phosphomethylphosphonic acid adenylate ester 198 H 199 H 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding magnesium ion 45 S 52 T 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 5x40:A 33.1 12 260 5 275 Structure of a cbio dimer bound with amppcp 9e-30 129 binding magnesium ion 88 Q 92 Q 28322252 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 718 F 21 Y 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 725 A 27 A 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 745 N 47 N 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 746 G 48 G 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 748 G 50 G 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 749 K 51 K 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 750 T 52 T 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 834 K 134 K 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 841 D 141 T 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 843 S 143 S 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding magnesium ion 750 T 52 T 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding magnesium ion 790 Q 92 Q 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 22 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 465 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 566 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 567 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 568 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 572 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 592 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 593 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 595 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 1076 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 1355 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 1362 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 1470 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate 1471 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1619 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1646 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1647 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1649 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1650 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1651 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1652 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1742 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1744 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkz:A 32.5 11 219 708 918 Structure of atp-bound human abca4 1e-29 129 binding adenosine-5'-triphosphate 1745 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 801 F 21 Y 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 804 C - 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 808 A 27 A 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 828 N 47 N 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 831 G 50 G 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 832 K 51 K 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 833 T 52 T 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 834 T 53 T 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 873 Q 92 Q 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 926 S 143 S 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 928 G 145 G 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding magnesium ion 833 T 52 T 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding magnesium ion 873 Q 92 Q 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1671 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1698 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1701 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1702 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1703 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1704 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1743 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1794 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding adenosine-5'-triphosphate 1796 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding magnesium ion 1703 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7q:A 32.5 11 219 791 1001 Cryo-em structure of human abca4 in atp-bound state 1e-29 129 binding magnesium ion 1743 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7o:A 33.8 27 219 824 1017 Cryo-em structure of human abca4 in nrpe-bound state 1e-29 128 binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate 285 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7o:A 33.8 27 219 824 1017 Cryo-em structure of human abca4 in nrpe-bound state 1e-29 128 binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate 290 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7o:A 33.8 27 219 824 1017 Cryo-em structure of human abca4 in nrpe-bound state 1e-29 128 binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate 526 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7o:A 33.8 27 219 824 1017 Cryo-em structure of human abca4 in nrpe-bound state 1e-29 128 binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate 527 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7o:A 33.8 27 219 824 1017 Cryo-em structure of human abca4 in nrpe-bound state 1e-29 128 binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate 589 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7o:A 33.8 27 219 824 1017 Cryo-em structure of human abca4 in nrpe-bound state 1e-29 128 binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate 592 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7e7o:A 33.8 27 219 824 1017 Cryo-em structure of human abca4 in nrpe-bound state 1e-29 128 binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate 1454 34158497 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding Digitonin 819 H 98 A 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding Digitonin 863 Q 140 M 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding Digitonin 522 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding Digitonin 526 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding Digitonin 530 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding Digitonin 533 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding Digitonin 616 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 9 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 10 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 13 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 617 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1073 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1074 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1076 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1402 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1436 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1487 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1492 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1495 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1496 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1499 33605212 N515DRAFT_1248 N515DRAFT_1248 ABC-2 type transport system ATP-binding protein PDB 7lkp:A 33.5 28 219 749 941 Structure of atp-free human abca4 4e-29 127 binding cholesterol 1603 33605212