SitesBLAST

1388:1461 ISMLTGLFGATAGTIFVYGKDIKTDLNTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKTQLHEEVKR→M: In a mouse model for harlequin ichthyosis (HI), smooth skin (smsk) mutant mice show a pronounced perinatal lethal skin phenotype in 25% of the offspring and newborn mutant pups die within a few hours after birth, and appear severely dehydrated with dry cracking skin. Smsk homozygous mutants embryos show a normal appearance at 14.5 dpc, but at 16.5 dpc develop a partial absence of normal skin folds around the trunk and limbs, and by 18.5 dpc develop a taut, thick skin and limb contractures.
1996 G→D: In a mouse model for harlequin ichthyosis (HI), homozygous mice are embryonic lethal but occasionally pups are found in the first few hours after birth but die and are severely dehydrated and fail to suckle normally. Homozygous pups show hallmarks of HI desease including hyperkeratosis, abnormal extracellular lipid lamellae and defects in cornified envelope processing. At 14.5 dpc and 15.5 dpc homozygous embryos appear normal; however from 16.5 dpc onwards they are characterized by an absence of normal skin folds around the trunk and limbs. As development progressed, embryos develop a taut, thick epidermis and multiple contractures affecting the limbs. Late stage embryos are smaller.

O95477 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) (see 35 papers)
33% identity, 76% coverage: 4:233/302 of query aligns to 899:1136/2261 of O95477

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O95477

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D917 (≠ N20) to Y: in a colorectal cancer sample; somatic mutation
T929 (≠ I32) to I: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane
N935 (= N38) to S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs28937313
K939 (= K42) mutation to M: Inhibits ATPase activity; when associated with M-1952. Decreases translocase activity; when associated with M-1952. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-1952.
S1042 (≠ A142) modified: Phosphoserine; by PKA
P1065 (= P165) natural variant: P -> S
M1091 (≠ L191) to T: in FHA1; loss of localization to plasma membrane; decreased cholesterol efflux; decreased phospholipid efflux
C1110 (vs. gap) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1111.
C1111 (vs. gap) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1110.

Sites not aligning to the query:

3 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased cholesterol efflux. Decreased phospholipid efflux. Decreased palmitoylation; when associated with S-23, S-1110 and S-1111.
23 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased palmitoylation; when associated with S-3, S-1110 and S-1111.
74 I→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.; I→K: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-371.
75 modified: Disulfide link with 309
85 P → L: in FHA1; Alabama; dbSNP:rs145183203
98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
100 S→C: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
210 E → D: in a colorectal cancer sample; somatic mutation
219 R → K: in dbSNP:rs2230806
230 R → C: in dbSNP:rs9282541
244 modified: carbohydrate, N-linked (GlcNAc...) asparagine
248 P → A: in dbSNP:rs142625938
255 A → T: in TGD; deficient cellular cholesterol efflux; dbSNP:rs758100110
304 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-308.
308 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-304.
309 modified: Disulfide link with 75
364 S → C: in dbSNP:rs775035559
371 I→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane. 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-74 or C-375.; I→E: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-74.
375 L→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.
399 V → A: in dbSNP:rs9282543
401 K → Q: in dbSNP:rs138487227
496 R → W: in dbSNP:rs147675550
568 K→A: 60-65% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane.
573 Y→F: No effect on phospholipid and cholesterol efflux and on localization to cell membrane.
581 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-584 and K-585.
583 F→K: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-590.
584 E→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-585.
585 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-584.
590 W → S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs137854496; W→E: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-583.
593 F→L: Moderately decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
638 R → Q: in dbSNP:rs374190304
771 V → M: in dbSNP:rs2066718
774 T → P: in dbSNP:rs35819696; natural variant: T -> S
776 K → N: in dbSNP:rs138880920
815 E → G: in dbSNP:rs145582736
825 V → I: in dbSNP:rs2066715
883 I → M: in dbSNP:rs2066714
1172 E → D: in dbSNP:rs33918808
1181 S → F: in dbSNP:rs76881554
1216 G → V: in dbSNP:rs562403512
1341 R → T: in dbSNP:rs147743782
1376 S → G: in dbSNP:rs145689805
1379 L → F: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane
1407 A → T: in a colorectal cancer sample; somatic mutation; dbSNP:rs189206655
1463 modified: Disulfide link with 1477
1477 modified: Disulfide link with 1463; C → R: in TGD; loss of interaction with APOE; unable to generate APOE-containing high density lipoproteins; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs137854494
1512 T→M: Moderately decreased protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
1555 I → T: in dbSNP:rs1997618
1587 K → R: in dbSNP:rs2230808
1611 N → D: in FHA1; deficient cellular cholesterol efflux
1615 R → Q: in dbSNP:rs1251839800
1648 L → P: in dbSNP:rs1883024
1670 A → T: in dbSNP:rs1203589782
1680 R → Q: in dbSNP:rs150125857
1704 V → D: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane
1731 S → C: in dbSNP:rs760507032
1897 R → W: in FHA1; uncertain significance; dbSNP:rs760768125
1925 R → Q: in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906
1952 K→M: Inhibits ATPase activity; when associated with M-939. Decreases translocase activity; when associated with M-939. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-939.
2054 modified: Phosphoserine; by PKA
2081 R → W: in TGD; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane; dbSNP:rs137854501
2109 A → T: in a colorectal cancer sample; somatic mutation
2150 P → L: in FHA1; moderately decreased protein abundance; does not affect ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs369098049
2163 natural variant: F -> S
2168 L → P: in dbSNP:rs2853577
2243 D → E: in dbSNP:rs34879708
2244 V → I: in dbSNP:rs144588452

7tbwA The structure of atp-bound abca1 (see paper)
32% identity, 92% coverage: 4:280/302 of query aligns to 754:1043/1928 of 7tbwA

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binding adenosine-5'-triphosphate: Y763 (= Y13), D765 (vs. gap), K768 (= K16), N790 (= N38), G791 (= G39), G793 (= G41), K794 (= K42), T795 (= T43), Q835 (= Q81), Q887 (≠ S132), S889 (= S134), H944 (= H189)
binding magnesium ion: Q835 (= Q81), D912 (= D157), Q913 (≠ E158)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1630, 1633, 1657, 1658, 1660, 1661, 1662, 1663, 1702, 1753, 1755, 1756, 1757, 1779, 1783, 1811
binding cholesterol: 218, 219, 360, 367
binding magnesium ion: 1662, 1702

8ee6A Cryo-em structure of human abca7 in pe/ch nanodiscs (see paper)
31% identity, 92% coverage: 4:282/302 of query aligns to 624:904/1808 of 8ee6A

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binding phosphothiophosphoric acid-adenylate ester: F633 (≠ Y13), A640 (= A18), N660 (= N38), G661 (= G39), G663 (= G41), K664 (= K42), T665 (= T43), T666 (= T44)

Sites not aligning to the query:

binding phosphothiophosphoric acid-adenylate ester: 607, 608, 1507, 1514, 1535, 1536, 1537, 1538, 1539

7roqA Alternative structure of human abca1
33% identity, 71% coverage: 15:228/302 of query aligns to 783:1001/1831 of 7roqA

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G

Y

L

L

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T

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P

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A

S

G

G

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V

A

R

Y

I

I

L

L

G

G

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K

A

D

P

I

N

R

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S

-

E

-

M

P

S

T

T

L

I

L

R

G

Q

Q

N

I

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A

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A

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L

C

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P

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A

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V

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E

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P

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A

A

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-

C

-

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M

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S

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N

L

S

G

G

T

S

G

D

Y

Y

Y

L

L

T

T

L

L

T

V

Sites not aligning to the query:

binding cholesterol: 688, 1106, 1426, 1526, 1527

P41233 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) (see paper)
33% identity, 76% coverage: 4:233/302 of query aligns to 899:1136/2261 of P41233

query
sites
P41233

V

V

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S

C

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Q

G

N

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L

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Y

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N

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Sites not aligning to the query:

489 modified: carbohydrate, N-linked (GlcNAc...) asparagine

Q99758 Phospholipid-transporting ATPase ABCA3; ABC-C transporter; ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; ATP-binding cassette 3; Xenobiotic-transporting ATPase ABCA3; EC 7.6.2.1; EC 7.6.2.2 from Homo sapiens (Human) (see 15 papers)
31% identity, 79% coverage: 4:241/302 of query aligns to 530:777/1704 of Q99758

query
sites
Q99758

V

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Q

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|
N

G

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A

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L

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x
P

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V

N568 (= N38) to D: in SMDP3; does not affect location in intracellular vesicle membrane; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; does not affect protein expression; does not affect multivesicular bodies and lamellar bodies location; affects multivesicular bodies and lamellar bodies development; loss of phosphatidylcholine transport; does not affect cholesterol transport; dbSNP:rs121909184
L579 (= L49) to P: in SMDP3; uncertain significance
R605 (≠ L73) to Q: in SMDP3; uncertain significance; dbSNP:rs760006956
S693 (≠ A161) mutation to L: Does not affect protein oligomerization.
P766 (vs. gap) to S: in dbSNP:rs45592239

Sites not aligning to the query:

43 R → L: in SMDP3; uncertain significance
53 N→Q: Does not affect N-glycosylation. Does not affect protein expression. Does not affect lamellar body membrane location.
101 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; dbSNP:rs121909182
124 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→Q: Loss of N-glycosylation. Reduces protein expression by 50%. Affects anterograde trafficking; when associated with Q-140. Reduces protein expression by 85%; when associated with Q-140. Does not affect lamellar body membrane location.
140 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → H: in dbSNP:rs45447801; N→Q: Loss of N-glycosylation. Reduces protein expression by 50%. Affects anterograde trafficking; when associated with Q-124. Reduces protein expression by 85%; when associated with Q-140. Does not affect lamellar body membrane location.
173:174 LK→AA: Loss of proteolytic processing.
174:175 Cleavage; by CTSL
215 Q → K: in SMDP3; loss of lamellar bodies membrane location; loss of proteolytic cleavage; increases cellular free cholesterol and phosphatidylcholine transport; loss of vesicles formation; increases free cholesterol induced cell death; loss of protein oligomerization; dbSNP:rs879159551
280 R → C: in SMDP3; uncertain significance; does not affect protein oligomerization; dbSNP:rs201299260
288 R → K: in SMDP3; uncertain significance; does not affect protein oligomerization; dbSNP:rs117603931
290 L → M: in a breast cancer sample; somatic mutation
292 E → V: in SMDP3; uncertain significance; does not affect lamellar bodies membrane location; does not affect proteolytic cleavage; affects lamellar bodies formation; does not affect cholesterol and phosphatidylcholine transport; decreases vesicles formation; does not affect free cholesterol induced cell death; dbSNP:rs149989682
801 E → D: in a breast cancer sample; somatic mutation
945 N→Q: Does not affect lamellar body membrane location. Does not affect protein expression. Does not affect proteolytic processing.
982 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs1402761450
1069 H → Q: in a breast cancer sample; somatic mutation
1076 N → K: in SMDP3; uncertain significance
1221 G → S: in SMDP3; does not affect intracellular vesicle membrane location; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; G→A: Decreases ATP hydrolysis activity of 15% compared to the wild-type.; G→T: Decreases ATP hydrolysis activity of 36% compared to the wild-type.; G→V: Decreases ATP hydrolysis activity of 18% compared to the wild-type.
1302 G → E: in SMDP3; uncertain significance
1388 K → N: in SMDP3; decreases phosphatidylcholine transport; increases protein abundance; does not affect folding in the endoplasmic reticulum; decreases proteolytic processing; affects lamellar bodies development; reduces free cholesterol transport
1553 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs121909183
1580 L → P: in SMDP3; does not affect location in intracellular vesicle membrane; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; affects the intracellular vesicles development; decreases phosphatidylcholine transport; L→A: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; L→F: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; L→V: Decreases ATP hydrolysis activity of 56% compared to the wild-type.
1591 Q → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs28936691

Q8R420 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) (see paper)
31% identity, 79% coverage: 4:241/302 of query aligns to 530:777/1704 of Q8R420

query
sites
Q8R420

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V

Sites not aligning to the query:

292 E→V: Knockin new born mice are healthy and survive into adulthood without overt signs of respiratory distress. Knockin mice show a severe lung phenotype that begins with alveolar inflammatory cell infiltration at the early stage of the mouse life followed by aberrant lung remodeling with characteristics of diffuse parenchymal lung disease (DPLD)- and emphysema-like alveolar disruption in older mice.

Q8IUA7 ATP-binding cassette sub-family A member 9; EC 7.6.2.- from Homo sapiens (Human) (see 2 papers)
31% identity, 75% coverage: 1:225/302 of query aligns to 1282:1517/1624 of Q8IUA7

query
sites
Q8IUA7

M

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K

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A

S

L

I

I

L

G

G

S

N

P

P

K

S

L

V

V

V

L

L

D

D

E

E

P

P

T

S

A

T

G

G

L

M

D

D

P

P

A

E

N

G

A

Q

K

Q

I

M

R

W

E

Q

L

V

V

I

R

R

I

A

L

T

S

F

P

R

T

N

T

T

T

E

-

R

-

G

F

A

V

L

I

L

S

T

H

H

N

Y

L

M

D

A

E

E

L

A

E

E

K

A

L

V

C

C

D

D

Q

R

V

V

L

A

Y

I

L

M

D

V

K

S

G

G

E

R

L

L

S

R

-

C

-

I

Q

G

S

S

I

I

S

Q

M

H

R

L

S

K

S

S

N

K

S

F

G

G

S

K

D

D

Y

Y

L

L

K1306 (vs. gap) to T: in dbSNP:rs2302294

Sites not aligning to the query:

353 R → H: in dbSNP:rs1860447
949 modified: carbohydrate, N-linked (GlcNAc...) asparagine

7w02A Cryo-em structure of atp-bound abca3 (see paper)
30% identity, 79% coverage: 4:241/302 of query aligns to 495:742/1566 of 7w02A

query
sites
7w02A

V

I

Q

K

C

I

Q

K

G

H

L

L

S

S

K

K

H

V

Y
x
F

-

R

-

V

G

G

N

N

K

K

K

D

-

R

-

A

A

A

L

V

N

R

N

D

V

L

S

N

L

L

T

N

L

L

E

Y

A

E

G

G

A

Q

P

I

I

T

A

V

L

L

V

L

G

G

P

H

N
|
N

G
|
G

A

A

G
|
G

K
|
K

T
|
T

L

T

F

L

S

S

L

M

L

L

C

T

G

G

Y

L

L

F

T

P

P

P

S

T

A

S

G

G

T

R

V

A

R

Y

I

I

L

S

G

G

E

Y

-

E

-

I

A

S

P

Q

N

D

S

M

P

V

T

Q

L

I

L

R

G

K

Q

S

I

L

A

G

A

L

L

C

P

P

Q
|
Q

D

H

A

D

T

I

L

L

D

F

P

D

N

N

L

L

T

T

I

V

I

A

S

E

Q

H

L

L

S

Y

F

F

F

Y

A

A

R

Q

L

L

Q

K

G

G

M

L

D

S

S

R

K

Q

Q

K

A

C

N

P

Q

E

E

E

A

V

L

K

R

Q

V

M

L

L

N

H

L

I

V

I

D

G

L

L

A

E

E

D

V

K

A

W

Q

N

Q

S

K

R

P

S

P

R

S

F

L
|
L

S
|
S

H

G

G

G

M

M

S

R

K

R

R

K

V

L

A

S

I

I

A

G

Q

I

A

A

L

L

I

I

G

A

S

G

P

S

K

K

L

V

V

L

L

I

L

L

D

D

E

Q

P

P

T

T

A

S

G

G

L

M

D

D

P

A

A

I

N

S

A

R

K

R

K

A

I

I

R

W

E

D

L

L

V

L

R

Q

I

R

L

Q

S

K

P

S

T

D

T

R

T

T

F

I

V

V

I

L

S

T

H

H

N

F

L

M

D

D

E

E

L

A

E

D

K

L

L

L

C

G

D

D

Q

R

V

I

L

A

Y

I

L

M

D

A

K

K

G

G

E

E

L

L

-

Q

-

C

S

G

Q

S

S

S

I

L

S

F

M

L

R

K

S

Q

S

K

N

Y

S

G

G

A

S

G

D

Y

Y

H

L

M

T

T

L

L

T

V

M

K

Q

E

-

P

S

H

C

C

D

N

S

P

E

E

A

D

L

I

I

S

Q

Q

A

L

V

V

binding adenosine-5'-triphosphate: F504 (≠ Y13), N533 (= N38), G534 (= G39), G536 (= G41), K537 (= K42), T538 (= T43), T539 (= T44), Q578 (= Q81), L630 (= L133), S631 (= S134)
binding magnesium ion: T538 (= T43), Q578 (= Q81)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1277, 1305, 1306, 1307, 1308, 1309, 1310, 1344, 1395, 1398
binding magnesium ion: 1310, 1344

7tbyA The structure of human abca1 in nanodisc (see paper)
32% identity, 84% coverage: 4:257/302 of query aligns to 691:942/1788 of 7tbyA

query
sites
7tbyA

V

V

Q

S

C

I

Q

Q

G

N

L

L

S

V

K

K

H

V

Y

Y

G

-

N

-

K

-

A

-

L

-

N

-

V

L

S

A

L

L

T

N

L

F

E

Y

A

E

G

G

A

Q

P

I

I

T

A

S

L

F

V

L

G

G

P

H

N

N

G

G

A

A

G

G

K

K

T

T

L

T

F

M

S

S

L

I

L

L

C

T

G

G

Y

L

L

F

T

P

P

P

S

T

A

S

G

G

T

T

V

A

R

Y

I

I

L

L

G

G

E

K

A

D

P

I

N

R

S

S

-

E

-

M

P

S

T

T

L

I

L

R

G

Q

Q

N

I

L

A

G

A

V

L

C

P

P

Q

Q

D

H

A

N

T

V

L

L

D

F

P

D

N

M

L

L

T

T

I

V

I

E

S

E

Q

H

L

I

S

W

F

F

F

Y

A

A

R

R

L

L

Q

K

G

G

M

L

D

S

S

E

K

K

Q

H

A

V

N

K

Q

A

E

E

A

M

L

E

R

Q

V

M

L

A

N

L

L

D

V

V

D

G

L

L

-

P

A

S

E

S

V

K

A

L

Q

K

Q

S

K

K

P

T

P

S

S

Q

L

L

S

S

H

G

G

G

M

M

S

Q

K

R

R

K

V

L

A

S

I

V

A

A

Q

L

A

A

L

F

I

V

G

G

S

G

P

S

K

K

L

V

V

V

L

I

L

L

D

D

E

E

P

P

T

T

A

A

G

G

L

V

D

D

P

P

A

Y

N

S

A

R

K

R

K

G

I

I

R

W

E

E

L

L

V

L

R

L

I

K

L

Y

S

R

P

Q

T

G

T

R

T

T

F

I

V

I

I

L

S

S

S

T

H

H

N

H

L

M

D

D

E

E

L

A

E

D

K

V

L

L

C

G

D

D

Q

R

V

I

L

A

Y

I

L

I

D

S

K

H

G

G

E

K

L

L

-

C

-

V

S

G

Q

S

S

S

I

L

S

F

M

L

R

K

S

N

S

Q

N

L

S

G

G

T

S

G

D

Y

Y

Y

L

L

T

T

L

L

T

V

M

K

Q

V

S

S

C

A

D

I

S

S

E

N

A

L

L

I

I

R

Q

K

A

H

V

V

G

S

Q

E

I

A

A

R

G

L

V

V

V

E

N

D

I

I

T

G

S

H

K

E

Q

L

A

T

H

Y

V

V

Sites not aligning to the query:

binding cholesterol: 161, 162

Q9BZC7 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) (see paper)
32% identity, 69% coverage: 3:209/302 of query aligns to 988:1199/2435 of Q9BZC7

query
sites
Q9BZC7

L

L

V

V

Q

V

C

C

-

V

Q

D

G

K

L

L

S

T

K

K

H

V

Y

Y

G

K

N

D

K

D

K

K

-

K

-

L

A

A

L

L

N

N

N

K

V

L

S

S

L

L

T

N

L

L

E

Y

A

E

G

N

A

Q

P

V

I

V

A

S

L

F

V

L

G

G

P

H

N

N

G

G

A

A

G

G

K

K

T

T

L

T

F

M

S

S

L

I

L

L

C

T

G

G

Y

L

L

F

T

P

P

P

S

T

A

S

G

G

T

S

V

A

R

T

I

I

L

Y

G

G

E

H

A

D

P

I

N

R

S

T

P

E

T

M

-

D

-

E

L

I

L

R

G

K

Q

N

I

L

A

G

A

M

L

C

P

P

Q

Q

D

H

A

N

T

V

L

L

D

F

P

D

N

R

L

L

T

T

I

V

I

E

S

E

Q

H

L

L

S

W

F

F

F

Y

A

S

R

R

L

L

Q

K

G

S

M

M

D

A

S

Q

K

E

Q

E

A

I

N

R

Q

R

E

E

A

M

L

D

R

K

V

M

L

I

N

E

L

D

V

L

D

E

L

L

A

S

E

N

V

K

A

R

Q

H

Q

S

K

L

P

V

P

Q

S

T

L

L

S

S

H

G

G

G

M

M

S

K

K

R

R

K

V

L

A

S

I

V

A

A

Q

I

A

A

L

F

I

V

G

G

S

G

P

S

K

R

L

A

V

I

L

I

L

L

D

D

E

E

P

P

T

T

A

A

G

G

L

V

D

D

P

P

A

Y

N

A

A

R

K

R

K

A

I

I

R

W

E

D

L

L

V

I

R

L

I

K

L

Y

S

K

P

P

T

G

T

R

T

T

F

I

V

L

I

L

S

S

S

T

H

H

N

H

L

M

D

D

E

E

L

A

E

D

K

L

L

L

C

G

D

D

Q

R

V

I

L

A

Y

I

L

I

D

S

K

H

G

G

E

K

L

L

Sites not aligning to the query:

271 modified: N5-methylglutamine; Q→R: Abolishes methylation by N6AMT1.

8eopA Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state (see paper)
35% identity, 68% coverage: 4:209/302 of query aligns to 650:859/1687 of 8eopA

query
sites
8eopA

V

V

Q

S

C

V

Q

R

G

S

L

L

S

E

K

K

H

R

Y
x
F

G

P

N

G

-
x
S

-

P

K

Q

K

P

A
|
A

L

L

N

R

N

G

V

L

S

S

L

L

T

D

L

F

E

Y

A

Q

G

G

A

H

P

I

I

T

A

A

L

F

V

L

G

G

P

H

N
|
N

G
|
G

A

A

G
|
G

K
|
K

T
|
T

L

T

F

L

S

S

L

I

L

L

C

S

G

G

Y

L

L

F

T

P

P

P

S

S

A

G

G

G

T

S

V

A

R

F

I

I

L

L

G

G

E

H

A

D

P

V

N

R

S

S

-

S

-

M

P

A

T

A

L

I

L

R

G

P

Q

H

I

L

A

G

A

V

L

C

P

P

Q

Q

D

Y

A

N

T

V

L

L

D

F

P

D

N

M

L

L

T

T

I

V

I

D

S

E

Q

H

L

V

S

W

F

F

F

Y

A

G

R

R

L

L

Q

K

G

G

M

L

D

S

S

A

K

A

Q

V

A

V

N

G

Q

P

E

E

A

Q

L

D

R

R

V

L

L

L

N

Q

L

D

V

V

D

G

L

L

A

V

E

S

V

K

A

Q

Q

S

Q

V

K

Q

P

T

P

R

S
x
H

L

L

S
|
S

H

G

G

G

M

M

S

Q

K

R

R

K

V

L

A

S

I

V

A

A

Q

I

A

A

L

F

I

V

G

G

S

G

P

S

K

Q

L

V

V

V

L

I

L

L

D

D

E

Q

P

P

T

T

A

A

G

G

L

V

D

D

P

P

A

A

N

S

A

R

K

R

K

G

I

I

R

W

E

E

L

L

V

L

R

L

I

K

L

Y

S

R

P

E

T

G

T

R

T

T

F

L

V

I

I

L

S

S

S

T

H

H

N

H

L

L

D

D

E

E

L

A

E

E

K

L

L

L

C

G

D

D

Q

R

V

V

L

A

Y

V

L

V

D

A

K

G

G

G

E

R

L

L

binding adenosine-5'-triphosphate: F659 (≠ Y13), S662 (vs. gap), A666 (= A18), N686 (= N38), G687 (= G39), G689 (= G41), K690 (= K42), T691 (= T43), T692 (= T44), H782 (≠ S132), S784 (= S134)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1461, 1488, 1489, 1491, 1492, 1494, 1533, 1584, 1586
binding magnesium ion: 1493, 1533

P34358 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans (see 2 papers)
35% identity, 65% coverage: 16:212/302 of query aligns to 560:758/1704 of P34358

query
sites
P34358

K

E

K

R

A

A

L

V

N

D

N

G

V

L

S

S

L

L

T

R

L

A

E

V

A

R

G

G

A

Q

P

C

I

S

A

I

L

L

V

L

G

G

P

H

N

N

G

G

A

A

G

G

K
|
K

T

S

T

T

L

T

F

F

S

S

L

S

L

I

C

A

G

G

Y

I

L

I

T

R

P

P

S

T

A

N

G

G

T

R

V

I

R

T

I

I

L

C

G

G

-

Y

E

D

A

V

P

G

N

N

S

E

P

P

-

G

T

E

L

T

L

R

G

R

Q

H

I

I

A

G

A

M

L

C

P

P

Q

Q

D

Y

A

N

T

P

L

L

D

Y

P

D

N

Q

L

L

T

T

I

V

I

S

S
x
E

Q

H

L

L

S

K

F

L

F

V

A

Y

R

G

L

L

Q

K

G

G

M

A

D

R

S

E

K

K

Q

D

A

F

N

K

Q

Q

E

D

A

M

L

K

R

R

V

L

L

L

N

S

L

D

V

V

D

K

L

L

A

D

E

F

V

K

A

E

Q

N

Q

E

K

K

P

A

P

V

S

N

L

L

S

S

H

G

G

G

M

M

S

K

K

R

R

K

V

L

A

C

I

V

A

C

Q

M

A

A

L

L

I

I

G

G

S

D

P

S

K

E

L

V

V

V

L

L

D

D

E

E

P

P

T

T

A

A

G

G

L

M

D

D

P

P

A

G

N

A

A

R

K

Q

K

D

I

V

R

Q

E

K

L

L

V

V

R

E

I

R

L

E

S

K

P

A

T

N

T

R

T

T

F

I

V

L

I

L

S

T

H

H

N

Y

L

M

D

D

E

E

L

A

E

E

K

R

L

L

C

G

D

D

Q

W

V

V

L

F

Y

I

L

M

D

S

K

H

G

G

E

K

L

L

S

V

Q

A

S

S

K586 (= K42) mutation to R: Cell corpses not engulfed.
E639 (≠ S93) mutation to G: Cell corpses not engulfed.

Sites not aligning to the query:

126 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1012 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1045 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1417 K→R: Some cell corpses not engulfed.

Q5SSE9 ATP-binding cassette sub-family A member 13; EC 7.6.2.- from Mus musculus (Mouse) (see paper)
34% identity, 67% coverage: 9:209/302 of query aligns to 3815:4020/5034 of Q5SSE9

query
sites
Q5SSE9

L

V

S

T

K

K

H

E

Y

Y

G

E

N

D

K

H

K

K

-

V

A

A

L

V

N

Q

N

E

V

L

S

T

L

L

T

T

L

F

E

H

A

R

G

D

A

Q

P

I

I

T

A

A

L

L

V

L

G

G

P

T

N

N

G

G

A

A

G

G

K
|
K

T

T

L

I

F

I

S

S

L

M

L

L

C

M

G

G

Y

L

L

F

T

P

P

P

S

T

A

S

G

G

T

T

V

I

R

T

I

I

L

N

G

G

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K

A

-

P

-

N

N

S

L

P

Q

T

T

L

D

L

L

G

S

Q

K

I

V

-

R

-

E

-

L

A

G

A

V

L

C

P

P

Q

Q

D

Q

A

D

T

V

L

L

D

L

P

D

N

N

L

L

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T

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H

L

L

S

M

F

L

F

F

A

A

R

S

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I

Q

K

G

A

-

P

-

W

M

W

D

T

S

T

K

K

Q

E

A

L

N

Q

Q

Q

E

Q

A

V

L

N

R

K

V

T

L

L

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D

L

E

V

V

D

E

L

L

A

T

E

Q

V

-

A

H

Q

Q

Q

H

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K

P

P

P

A

S

G

-

V

L

L

S

S

H

G

G

G

M

M

S

K

K

R

R

K

V

L

A

S

I

I

A

G

Q

I

A

A

L

F

I

M

G

G

S

M

P

S

K

K

L

T

V

V

L

V

L

L

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D

E

E

P

P

T

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A

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G

G

L

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D

P

P

A

C

N

S

A

R

K

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K

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D

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R

L

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G

T

R

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T

F

I

V

I

I

F

S

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S
x
T

H

H

N

H

L

L

D

D

E

E

L

A

E

E

K

M

L

L

C

S

D

D

Q

H

V

V

L

A

Y

V

L

L

D

Q

K

Q

G

G

E

R

L

L

K3849 (= K42) mutation to M: Does not affect intracellular vesicle localization. Affects cholesterol internalization.
T3999 (≠ S188) mutation to A: Does not affect protein expression. Affects intracellular vesicles localization. Impairs intracellular cholesterol accumulation in the vesicle.

Sites not aligning to the query:

3577 H→P: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.
4735 K→M: Does not affect intracellular vesicle localization.Affects cholesterol internalization.
4818 R→C: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.

7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
30% identity, 75% coverage: 16:241/302 of query aligns to 822:1051/2003 of 7e7oA

query
sites
7e7oA

K

K

K

I

A

A

L

V

N

D

N

R

V

L

S

N

L

I

T

T

L

F

E

Y

A

E

G

N

A

Q

P

I

I

T

A

A

L

F

V

L

G

G

P

H

N

N

G

G

A

A

G

G

K

K

T

T

L

T

F

L

S

S

L

I

L

L

C

T

G

G

Y

L

L

L

T

P

P

P

S

T

A

S

G

G

T

T

V

V

R

L

I

V

L

G

G

G

E

R

A

D

P

I

N

E

S

T

P

S

-

L

-

D

T

A

L

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L

R

G

Q

Q

S

I

L

A

G

A

M

L

C

P

P

Q

Q

D

H

A

N

T

I

L

L

D

F

P

H

N

H

L

L

T

T

I

V

I

A

S

E

Q

H

L

M

S

L

F

F

F

Y

A

A

R

Q

L

L

Q

K

G

G

M

K

D

S

S

Q

K

E

Q

E

A

A

N

Q

Q

L

E

E

A

M

L

E

R

A

V

M

L

L

N

E

L

D

V

T

D

G

L

L

A

H

E

H

V

K

A

R

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N

Q

E

K

E

P

A

P

Q

S

D

L

L

S

S

H

G

G

G

M

M

S

Q

K

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R

K

V

L

A

S

I

V

A

A

Q

I

A

A

L

F

I

V

G

G

S

D

P

A

K

K

L

V

V

V

L

I

L

L

D

D

E

E

P

P

T

T

A

S

G

G

L

V

D

D

P

P

A

Y

N

S

A

R

K

R

K

S

I

I

R

W

E

D

L

L

V

L

R

L

I

K

L

Y

S

R

P

S

T

G

T

R

T

T

F

I

V

I

I

M

S

S

S

T

H

H

N

H

L

M

D

D

E

E

L

A

E

D

K

L

L

L

C

G

D

D

Q

R

V

I

L

A

Y

I

L

I

D

A

K

Q

G

G

E

R

L

L

S

Y

Q

C

S

S

-

G

-

T

-

P

I

L

S

F

M

L

R

K

S

N

S

C

N

F

S

G

G

T

S

G

D

L

Y

Y

L

L

T

T

L

L

T

-

M

V

Q

R

S

K

C

M

D

D

S

V

E

N

A

E

L

L

I

M

Q

D

A

V

V

V

Sites not aligning to the query:

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, 290, 526, 527, 589, 592, 1454

8f5bA Human abca4 structure in complex with amp-pnp
30% identity, 75% coverage: 16:241/302 of query aligns to 735:964/1924 of 8f5bA

query
sites
8f5bA

K

R

K

P

A

A

L

V

N

D

N

R

V

L

S

N

L

I

T

T

L

F

E

Y

A

E

G

N

A

Q

P

I

I

T

A

A

L

F

V

L

G

G

P

H

N
|
N

G
|
G

A

A

G
|
G

K
|
K

T
|
T

L

T

F

L

S

S

L

I

L

L

C

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G

G

Y

L

L

L

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P

P

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T

A

S

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G

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T

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V

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V

L

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G

G

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S

-

L

-

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A

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Q

D

H

A

N

T

I

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L

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F

P

H

N

H

L

L

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T

I

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I

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Q

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S

L

F

F

F

Y

A

A

R

Q

L

L

Q

K

G

G

M

K

D

S

S

Q

K

E

Q

E

A

A

N

Q

Q

L

E

E

A

M

L

E

R

A

V

M

L

L

N

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V

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D

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L

L

A

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E

H

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K

A

R

Q

N

Q

E

K

E

P

A

P

Q

S
x
D

L

L

S

S

H

G

G

G

M

M

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Q

K

R

R

K

V

L

A

S

I

V

A

A

Q

I

A

A

L

F

I

V

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G

S

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P

A

K

K

L

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V

V

L

I

L

L

D

D

E

E

P

P

T

T

A

S

G

G

L

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D

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P

A

Y

N

S

A

R

K

R

K

S

I

I

R

W

E

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L

L

V

L

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L

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L

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T

G

T

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T

T

F

I

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I

I

M

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S

S

T

H

H

N

H

L

M

D

D

E

E

L

A

E

D

K

L

L

L

C

G

D

D

Q

R

V

I

L

A

Y

I

L

I

D

A

K

Q

G

G

E

R

L

L

S

Y

Q

C

S

S

-

G

-

T

-

P

I

L

S

F

M

L

R

K

S

N

S

C

N

F

S

G

G

T

S

G

D

L

Y

Y

L

L

T

T

L

L

T

-

M

V

Q

R

S

D

C

G

D

D

S

V

E

N

A

E

L

L

I

M

Q

D

A

V

V

V

binding phosphoaminophosphonic acid-adenylate ester: N757 (= N38), G758 (= G39), G760 (= G41), K761 (= K42), T762 (= T43), T763 (= T44), Q802 (= Q81), D853 (≠ S132)
binding magnesium ion: T762 (= T43), Q802 (= Q81)

Sites not aligning to the query:

binding phosphoaminophosphonic acid-adenylate ester: 1652, 1653, 1654, 1655, 1656, 1657, 1697, 1748, 1750
binding magnesium ion: 1657, 1697

P78363 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) (see 43 papers)
30% identity, 71% coverage: 16:230/302 of query aligns to 943:1162/2273 of P78363

query
sites
P78363

K
x
R

K
x
P

A
|
A

L
x
V

N
x
D

N
x
R

V
x
L

S
x
N

L
x
I

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|
T

L
x
F

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x
Y

A
x
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x
N

A
x
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P
x
I

I
x
T

A
|
A

L
x
F

V
x
L

G
|
G

P
x
H

N
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N

G
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G

A
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A

G
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G

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K

T
|
T

L
x
T

F
x
L

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S

L
x
I

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L

C
x
T

G
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G

Y
x
L

L
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L

T
x
P

P
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P

S
x
T

A
x
S

G
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G

T
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T

V
|
V

R
x
L

I
x
V

L
x
G

G
|
G

E
x
R

A
x
D

P
x
I

N
x
E

S
x
T

P
x
S

-
x
L

-
x
D

T
x
A

L
x
V

L
x
R

G
x
Q

Q
x
S

I
x
L

A
x
G

A
x
M

L
x
C

P
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P

Q
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Q

D
x
H

A
x
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x
I

L
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L

D
x
F

P
x
H

N
x
H

L
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L

T
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T

I
x
V

I
x
A

S
x
E

Q
x
H

L
x
M

S
x
L

F
|
F

F
x
Y

A
|
A

R
x
Q

L
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L

Q
x
K

G
|
G

M
x
K

D
x
S

S
x
Q

K
x
E

Q
x
E

A
|
A

N
x
Q

Q
x
L

E
|
E

A
x
M

L
x
E

R
x
A

V
x
M

L
|
L

N
x
E

L
x
D

V
x
T

D
x
G

L
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L

A
x
H

E
x
H

V
x
K

A
x
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x
N

Q
x
E

K
x
E

P
x
A

P
x
Q

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x
D

L
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L

S
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S

H
x
G

G
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G

M
|
M

S
x
Q

K
x
R

R
x
K

V
x
L

A
x
S

I
x
V

A
|
A

Q
x
I

A
|
A

L
x
F

I
x
V

G
|
G

S
x
D

P
x
A

K
|
K

L
x
V

V
|
V

L
x
I

L
|
L

D
|
D

E
|
E

P
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P

T
|
T

A
x
S

G
|
G

L
x
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|
D

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|
P

A
x
Y

N
x
S

A
x
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K
x
R

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x
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I
|
I

R
x
W

E
x
D

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|
L

V
x
L

R
x
L

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x
K

L
x
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x
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x
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x
G

T
x
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T
|
T

F
x
I

V
x
I

I
x
M

S
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S

S
x
T

H
|
H

N
x
H

L
x
M

D
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D

E
|
E

L
x
A

E
x
D

K
x
L

L
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L

C
x
G

D
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D

Q
x
R

V
x
I

L
x
A

Y
x
I

L
x
I

D
x
A

K
x
Q

G
|
G

E
x
R

L
|
L

S
x
Y

Q
x
C

S
|
S

-
x
G

-
x
T

-
x
P

I
x
L

S
x
F

M
x
L

R
x
K

S
x
N

S
x
C

N
x
F

S
x
G

G
x
T

S
x
G

D
x
L

Y
|
Y

L
|
L

T
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T

L
|
L

T
x
V

M
x
R

Q
x
K

R943 (≠ K16) to Q: risk factor for STGD1; risk factor for ARMD2; decreases 11-cis-Retinal binding affinity by 100-fold; dbSNP:rs1801581; to W: in STGD1 and FFM; dbSNP:rs61749446
Y954 (≠ E27) to D: in STGD1; uncertain significance; dbSNP:rs61749447
T959 (≠ I32) to I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
963:970 (vs. 36:43, 88% identical) binding
N965 (= N38) to S: in STGD1; reduced retinal-stimulated ATP hydrolysis; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; decreases about 60% the N-retinylidene-phosphatidylethanolamine transfer activity; stimulates modestly the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding; does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity; dbSNP:rs201471607; to Y: in STGD1; uncertain significance
G966 (= G39) mutation to D: Abolishes basal and retinal-stimulated ATP hydrolysis.
K969 (= K42) mutation to M: Abolishes basal and retinal-stimulated ATP hydrolysis.; mutation to M: Inhibits ATPase activity; when associated with M-1978. Decreases translocase activity; when associated with M-1978. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-1978. Loss of ATP-dependent all-trans-retinal transport; when associated with M-1978. Loss in N-retinylidene-PE transfer activity. Inhibits ATPase activity with increasing retinal concentration. Does not affect N-retinylidene-PE binding. Impairs ATP-dependent release of N-retinylidene-PE. Significantly reduces PE flippase activity.
T970 (= T43) to P: in STGD1; uncertain significance; dbSNP:rs1570377849
T971 (= T44) to N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
T972 (≠ L45) to N: in STGD1; uncertain significance; dbSNP:rs61749451
L973 (≠ F46) to S: in STGD1; uncertain significance
T977 (≠ C50) to P: in STGD1; uncertain significance
G978 (= G51) to D: in STGD1; uncertain significance; dbSNP:rs61749453
G991 (= G64) to R: in FFM and STGD1; dbSNP:rs61749455
E1022 (≠ S93) to G: in STGD1; uncertain significance; to K: in STGD1; uncertain significance; dbSNP:rs61749459
A1038 (= A109) to V: in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis; decreases solubility at 70%; does not affect intracellular vesicle localization; significantly reduces substrate binding in the absence of ATP; reduces basal ATPase activity; dbSNP:rs61751374
G1050 (≠ D121) to D: in STGD1; uncertain significance; dbSNP:rs61750062
K1054 (≠ V125) binding
S1071 (≠ A142) to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
I1074 (≠ Q145) to L: in STGD1; uncertain significance
G1078 (= G149) to E: in STGD1; uncertain significance
E1087 (= E158) mutation to Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
G1091 (= G162) to E: in FFM and STGD1; decreases solubilized at 70%; does not affect intracellular vesicle localization; does not affect substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation; dbSNP:rs61752417
P1094 (= P165) to T: in STGD1; uncertain significance
R1097 (≠ A168) to S: in STGD1; uncertain significance
R1098 (≠ K169) to C: in STGD1; uncertain significance; dbSNP:rs756840095
S1099 (≠ K170) to P: in STGD1; uncertain significance; dbSNP:rs61750119
D1102 (≠ E173) to Y: in dbSNP:rs138641544
R1108 (≠ S179) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
E1122 (= E193) to K: in STGD1 and CORD3; dbSNP:rs61751399
R1129 (≠ Q200) to C: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs779426136; to L: in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity; dbSNP:rs1801269
I1130 (≠ V201) to T: in STGD1; uncertain significance; dbSNP:rs1064793010
C1140 (≠ Q211) to W: in STGD1; uncertain significance
L1145 (≠ I213) to H: in CORD3; uncertain significance
K1148 (≠ R216) natural variant: K -> T
L1159 (= L227) to S: in STGD1; uncertain significance; dbSNP:rs1340749727
R1161 (≠ M229) to H: in STGD1; uncertain significance; dbSNP:rs768278935

Sites not aligning to the query:

14 N → K: in STGD1; uncertain significance
18 R → P: in STGD1; uncertain significance
21:2273 natural variant: Missing (in STGD1; uncertain significance)
24 R → H: in STGD1; uncertain significance; dbSNP:rs62645958
53:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs764744217)
54 modified: Disulfide link with 81
55 H → R: in CORD3; uncertain significance
63 S → P: in CORD3; uncertain significance
65 G → E: in STGD1 and CORD3; dbSNP:rs62654395
72 G → R: in STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation; dbSNP:rs61751412; G → V: in STGD1; uncertain significance
75 modified: Disulfide link with 324
81 modified: Disulfide link with 54
89:2273 natural variant: Missing (in STGD1; uncertain significance)
96 N → H: in STGD1; uncertain significance; dbSNP:rs61748529; N → K: in STGD1; uncertain significance; dbSNP:rs886039297
97 Y → C: in STGD1; uncertain significance; dbSNP:rs755691060
98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
100 S → P: in STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61748530
107:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs765429911)
108 D → V: in STGD1; uncertain significance
143 P → L: in STGD1; uncertain significance; dbSNP:rs62646860
172 G → S: in STGD1; uncertain significance; dbSNP:rs61748532
184 S → F: in STGD1; uncertain significance; S → R: in STGD1; uncertain significance
185:2273 natural variant: Missing (in STGD1; uncertain significance)
206 S → R: in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis; dbSNP:rs61748536
212 R → C: in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity; dbSNP:rs61750200; R → H: in dbSNP:rs6657239
218:2273 natural variant: Missing (in CORD3; uncertain significance)
219:2273 natural variant: Missing (found in a patient with chorioretinal atrophy; uncertain significance)
223 K → Q: in STGD1; uncertain significance; dbSNP:rs147619585
224 T → M: in a breast cancer sample; somatic mutation; dbSNP:rs373540612
240 I → R: in STGD1; uncertain significance; dbSNP:rs1553195472
241 E → D: in STGD1; uncertain significance
245:2273 natural variant: Missing (in STGD1; uncertain significance)
246 A → T: in STGD1; uncertain significance
290 R → W: in STGD1; uncertain significance; dbSNP:rs781716640
291 P → L: in STGD1; uncertain significance; dbSNP:rs190540405
320 S → C: in CORD3; uncertain significance
324 modified: Disulfide link with 75
326:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs747540967)
339:2273 natural variant: Missing (in CORD3; uncertain significance)
345 Y → S: in STGD1; uncertain significance
370 modified: Disulfide link with 519
407 A → V: in STGD1 and CORD3; dbSNP:rs61751264
410 I → T: in STGD1; uncertain significance
415 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → K: in STGD1; uncertain significance
418 F → S: in STGD1; uncertain significance; dbSNP:rs794726979
423 H → R: in dbSNP:rs3112831
424 V → A: in STGD1 and RP19; uncertain significance
431:2273 natural variant: Missing (in STGD1; uncertain significance)
440 Y → C: in CORD3; uncertain significance; dbSNP:rs770439859
444 modified: carbohydrate, N-linked (GlcNAc...) asparagine
455 L → M: in RP19; uncertain significance; dbSNP:rs764170051
471 E → K: in ARMD2 and STGD1; uncertain significance; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548
498 D → E: in STGD1; uncertain significance
504 modified: carbohydrate, N-linked (GlcNAc...) asparagine
508 R → C: in STGD1; uncertain significance; dbSNP:rs138157885
511 R → C: in STGD1; uncertain significance; dbSNP:rs752786160
519 modified: Disulfide link with 370; C → R: in STGD1; uncertain significance; dbSNP:rs1224959251
533:2273 natural variant: Missing (in STGD1; uncertain significance)
541 L → P: in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect intracellular vesicle localization; significantly reduces substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation; dbSNP:rs61751392
548 W → R: in STGD1; uncertain significance
552 V → I: in RP19; uncertain significance; dbSNP:rs145525174
572:2273 natural variant: Missing (in STGD1; uncertain significance)
576 D → H: found in a patient with pattern dystrophy; uncertain significance; dbSNP:rs374224955
593 P → L: in STGD1; uncertain significance
603 Y → C: in STGD1; uncertain significance
605:2273 natural variant: Missing (in CORD3; uncertain significance)
608 F → I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752398
616 E → K: in STGD1; uncertain significance; dbSNP:rs1557787473
636 Q → K: in CORD3; uncertain significance
639:2273 natural variant: Missing (in STGD1; uncertain significance)
640 P → L: in STGD1; uncertain significance; dbSNP:rs760790294
641 modified: Disulfide link with 1490, Interchain; C → S: in STGD1; uncertain significance; dbSNP:rs61749416
643 V → G: in CORD3; uncertain significance; dbSNP:rs61754024
653 R → C: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61749420; R → H: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs141823837
661 L → R: in CORD3; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
681:2273 natural variant: Missing (found in a patient with macular dystrophy; uncertain significance)
686 L → S: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752402
690 G → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; very low substrate binding
700:2273 natural variant: Missing (in STGD1; uncertain significance)
716 T → M: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749426
754 F → S: in STGD1; uncertain significance
764 C → Y: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749428
765 S → N: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749429; S → R: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752404
767 V → D: in STGD1; also found in a patient with macular dystrophy; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61751395
779:2273 natural variant: Missing (in STGD1; uncertain significance)
782:2273 natural variant: Missing (in STGD1; uncertain significance)
797 L → P: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749432
808:2273 natural variant: Missing (in STGD1; uncertain significance)
816 G → V: in STGD1; uncertain significance
818 G → E: in STGD1; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61750202
821 W → R: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61749433
824 I → T: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding
840 M → R: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
846 D → H: severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61754027
849 V → A: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749435
851 G → D: in STGD1; highly reduced ATP-binding capacity; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749436
854 A → T: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749437
863 G → A: in STGD1, FFM and CORD3; also found in a patient with bull's eye maculopathy; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis; significantly attenuates 11-cis-retinal binding; decreases about 80% the N-retinylidene-phosphatidylethanolamine transport activity; stimulates modestely the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding. Does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity; dbSNP:rs76157638; natural variant: Missing (in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis)
876:2273 natural variant: Missing (in STGD1; uncertain significance)
901 T → A: in dbSNP:rs61754030
914 natural variant: H -> R
940 P→R: Decreases 11-cis-Retinal binding affinity by 50%.
1029:2273 natural variant: Missing (in STGD1; uncertain significance)
1099:2273 natural variant: Missing (in STGD1; uncertain significance)
1177:2273 natural variant: Missing (in STGD1; uncertain significance)
1183 G → C: in CORD3; uncertain significance; dbSNP:rs75267647
1201 L → R: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs61750126
1203 G → E: in CORD3; uncertain significance; dbSNP:rs146786552; G → R: in STGD1; uncertain significance
1204 D → N: in STGD1; uncertain significance; dbSNP:rs61750127
1209 M → T: in dbSNP:rs76258939
1253 T → M: in FFM; uncertain significance; dbSNP:rs61752424
1300 R → Q: in STGD1; uncertain significance; dbSNP:rs61750129
1300:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs61752427)
1314 P → T: in dbSNP:rs61754041
1332:2273 natural variant: Missing (in STGD1; uncertain significance)
1357 A→T: Decreases solubility at 50%. Loss of intracellular vesicle localization. Does not affect substrate binding. Reduces basal ATPase activity.
1368 R → C: in CORD3; uncertain significance; dbSNP:rs1183074086
1371 K → N: in STGD1; uncertain significance
1380 P → L: in STGD1; also found in a patient with chorioretinal atrophy; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61750130
1399 E → K: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs62642573
1408 W → L: in STGD1; does not affect secondary structure; decreases structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750134; W → R: in STGD1; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750135
1408:2273 natural variant: Missing (in STGD1; uncertain significance)
1416 natural variant: Missing (in STGD1; uncertain significance)
1428 T → M: in dbSNP:rs1800549
1442 N → K: in STGD1; uncertain significance; dbSNP:rs762150575
1443 R → H: in STGD1; loss of the majority of alpha-helical secondary structure; does not bind all-trans-retinal; does not affect conformational change; dbSNP:rs61750142
1444 modified: Disulfide link with 1455
1453:2273 natural variant: Missing (in STGD1; uncertain significance)
1455 modified: Disulfide link with 1444
1461:2273 natural variant: Missing (in STGD1; uncertain significance)
1469 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1479:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61752434)
1484 P → S: in STGD1; uncertain significance
1488 modified: Disulfide link with 1502; C → R: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; does not affect secondary structure; oss of structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750146
1490 modified: Disulfide link with 641, Interchain; C → Y: in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61751402
1502 modified: Disulfide link with 1488; C→R: Moderately decreased protein abundance. Moderately decreased ATPase activity. Moderately decreased phospholipid translocase activity.
1503 P → L: in STGD1; uncertain significance
1511 P → H: in STGD1; uncertain significance; dbSNP:rs886046564
1512 P → R: in STGD1; uncertain significance; dbSNP:rs61750150
1526 T → M: in STGD1; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750152
1529 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1537 T → M: in STGD1; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs62642575
1551 natural variant: Missing (in STGD1; uncertain significance)
1556 R → T: in STGD1; uncertain significance
1557 Y → C: found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs1401716074
1562 I → T: in STGD1, FFM, ARMD2 and CORD3; uncertain significance; dbSNP:rs1762111
1572 T → M: in dbSNP:rs185093512
1588 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1591 G → R: in STGD1; uncertain significance; also found in a patient with macular dystrophy; uncertain significance; dbSNP:rs113106943
1598 A → D: in CORD3 and STGD1; uncertain significance; dbSNP:rs61750155
1618:2273 natural variant: Missing
1623 G → V: in dbSNP:rs1571257969
1637 A → T: in dbSNP:rs61754056
1640 R → Q: in STGD1, FFM and CORD3; dbSNP:rs61751403; R → W: in STGD1 and CORD3; dbSNP:rs61751404
1650:2273 natural variant: Missing (in CORD3; uncertain significance)
1652:2273 natural variant: Missing (in STGD1 and FFM; uncertain significance)
1662 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1681:1685 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
1696 S → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs61750564
1703 Q → E: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs61750565; Q → K: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity
1705 R → L: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753021; R → Q: in STGD1; uncertain significance; dbSNP:rs61753021
1724:2273 natural variant: Missing (in STGD1; uncertain significance)
1754 Y → D: in STGD1; uncertain significance
1761:1763 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
1762 A → D: in STGD1; uncertain significance; dbSNP:rs121909206
1773 A → E: found in a patient with chorioretinal atrophy; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; A → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs760549861
1775 I → N: in STGD1; uncertain significance; dbSNP:rs771742619
1779 Y → H: in STGD1; uncertain significance
1779:2273 natural variant: Missing (in STGD1; uncertain significance)
1794 A → D: in STGD1; also found in a patient with bull's eye maculopathy; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs61751406; A → P: in STGD1; uncertain significance; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases solubility below 50%; significantly reduces N-Ret-PE binding in the absence of ATP; dbSNP:rs1571252997
1805 N → D: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753029
1817 natural variant: E -> D
1838 H → D: in STGD1; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases basal ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → Y: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs62642562; H→R: Severely decreases solubility. Loss of cytoplasmic vesicle localization. Decreases basal ATPase activity below 50%. Loss of N-Ret-PE-induced stimulation in ATPase activity.
1843 R → W: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; does not affect N-Ret-PE binding; dbSNP:rs62642576
1868 N → I: risk factor for STGD1; slightly reduced retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; does not affect N-Ret-PE binding; dbSNP:rs1801466
1882 M → I: in CORD3; uncertain significance; dbSNP:rs752160946
1886 G → E: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs62642579
1898 R → C: does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; dbSNP:rs201357151; R → H: in STGD1 and ARMD2; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; Increases N-Ret-PE binding; dbSNP:rs1800552
1921 V → G: in STGD1; uncertain significance
1940 L → P: in STGD1 and FFM; dbSNP:rs61753033
1942 E → Q: in STGD1; uncertain significance; dbSNP:rs760353830
1948 P → L: in dbSNP:rs56142141; natural variant: P -> S
1961 G → E: in STGD1, FFM and CORD3; risk factor for ARMD2; also found in patients with cone dystrophy and with macular dystrophy; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553; G → R: in STGD1; uncertain significance; dbSNP:rs142253670
1970 L → F: in ARMD2, FFM and STGD1; also found in a patient with cone dystrophy; dbSNP:rs28938473
1971 L → R: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis; dbSNP:rs61753034
1972:1980 binding
1975 G→D: Inhibition of retinal-stimulated ATP hydrolysis.
1977 G → S: in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750639
1978 K→M: Inhibits ATPase activity; when associated with M-969. Decreases translocase activity; when associated with M-969. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-969. Loss of ATP-dependent all-trans-retinal transport; when associated with M-1978. Loss in N-retinylidene-PE transfer activity. Inhibits ATPase activity with increasing retinal concentration. Does not affect ATP-independent N-retinylidene-PE binding. Does not affect ATP-dependent of N-retinylidene-PE release. Significantly reduces PE flippase activity. Inhibition of retinal-stimulated ATP hydrolysis.
2017 C → Y: in STGD1; uncertain significance
2023 I → T: in STGD1; uncertain significance; dbSNP:rs150633517
2027 L → F: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; highly reduced ATP-binding capacity; dbSNP:rs61751408
2030 R → Q: in STGD1 and FFM; dbSNP:rs61750641
2030:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61751383)
2032 H → R: in STGD1; uncertain significance; dbSNP:rs1242866408
2033 L → R: in STGD1; uncertain significance; dbSNP:rs1553186896
2038 R → W: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs61750643
2040 R → Q: in STGD1; uncertain significance; dbSNP:rs148460146
2040:2273 natural variant: Missing (in STGD1; uncertain significance; also found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs61753038)
2042 V → G: in STGD1; uncertain significance
2043 P → S: in CORD3; uncertain significance; dbSNP:rs763230559
2050 V → L: in STGD1 and CORD3; may act as a modifier of macular dystrophy in patients who also have a Trp-172 mutation in PRPH2; dbSNP:rs41292677
2059 natural variant: G -> A
2064 A → T: in STGD1; uncertain significance; dbSNP:rs61753040
2073:2074 binding
2074 G → V: in STGD1; uncertain significance; dbSNP:rs367839100
2077 R → W: in STGD1; highly reduced ATP-binding capacity; decreases solubility at 50 %; loss of intracellular vesicle localization; drastically reduced basal activity with little or no substrate stimulation; dbSNP:rs61750645
2078 K → E: in STGD1; uncertain significance
2096 E → K: in STGD1; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750646; E→Q: Does not affect protein folding; when associated with Q-1087. Loss of ATPase activity; when associated with Q-1087.
2097 P → S: in STGD1; uncertain significance; dbSNP:rs1166357291
2106 R → C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750648
2107 R → C: in STGD1; uncertain significance; dbSNP:rs2297669; R → H: in STGD1 and CORD3; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs62642564; R→P: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
2131 E → K: in STGD1; uncertain significance; dbSNP:rs61750652
2140 L → Q: in STGD1; uncertain significance; dbSNP:rs774475956
2150 C → Y: in STGD1 and CORD3; dbSNP:rs61751384
2177 D → N: in CORD3, ARMD2 and STGD1; uncertain significance; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555
2180 P→L: Does not affect protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
2188 F → S: in STGD1; uncertain significance; dbSNP:rs61750658
2216 A → V: in dbSNP:rs886044763
2221 L → P: in STGD1; uncertain significance
2237 T → P: in STGD1; uncertain significance
2244:2249 Essential for ATP binding and ATPase activity
2255 S → I: in dbSNP:rs6666652

Query Sequence

>201027 SO1865 ABC transporter, ATP-binding protein (NCBI ptt file)
MILVQCQGLSKHYGNKKALNNVSLTLEAGAPIALVGPNGAGKTTLFSLLCGYLTPSAGTV
RILGEAPNSPTLLGQIAALPQDATLDPNLTIISQLSFFARLQGMDSKQANQEALRVLNLV
DLAEVAQQKPPSLSHGMSKRVAIAQALIGSPKLVLLDEPTAGLDPANAKKIRELVRILSP
TTTFVISSHNLDELEKLCDQVLYLDKGELSQSISMRSSNSGSDYLTLTMQSCDSEALIQA
VGQIAGVVNITSKQAHVFVIQLDDTANRHYEFETALLALFKQQHWQYKMLLKGRTLEETL
FS

Or try a new SitesBLAST search

SitesBLAST's Database

SitesBLAST's database includes (1) SwissProt entries with experimentally-supported functional features; and (2) protein structures with bound ligands, from the BioLip database.

by Morgan Price, Arkin group
Lawrence Berkeley National Laboratory