SitesBLAST
Comparing HSERO_RS05600 FitnessBrowser__HerbieS:HSERO_RS05600 to proteins with known functional sites using BLASTp with E ≤ 0.001.
Or try Sites on a Tree, PaperBLAST, Conserved Domains, or compare to all protein structures
Found 20 (the maximum) hits to proteins with known functional sites (download)
Q51955 4-hydroxybenzoate transporter PcaK from Pseudomonas putida (Arthrobacter siderocapsulatus) (see 2 papers)
40% identity, 95% coverage: 11:435/447 of query aligns to 11:436/448 of Q51955
- D41 (= D41) mutation D->A,N: Abolishes 4-HBA transport.; mutation to E: Decrease in 4-HBA transport.
- D44 (= D44) mutation D->A,N: Abolishes 4-HBA transport.; mutation to E: Decrease in 4-HBA transport.
- G85 (≠ T85) mutation to V: Abolishes 4-HBA transport and chemotaxis.
- D89 (= D89) mutation to N: Abolishes 4-HBA transport and chemotaxis.
- G92 (= G92) mutation to A: Decrease in 4-HBA transport and chemotaxis.; mutation to C: No change in 4-HBA transport and chemotaxis.; mutation G->L,V: Abolishes 4-HBA transport and chemotaxis.; mutation to Q: Decrease in 4-HBA transport and strong decrease in chemotaxis.
- R124 (= R124) mutation to A: Abolishes 4-HBA transport.
- E144 (= E144) mutation to A: Strong decrease in 4-HBA transport.
- H183 (= H183) mutation to A: Decrease in 4-HBA transport and chemotaxis.
- D323 (≠ Q322) mutation to N: Abolishes 4-HBA transport and chemotaxis.
- H328 (≠ T327) mutation to A: Decrease in 4-HBA transport and chemotaxis.; mutation to R: Decrease in 4-HBA transport and loss of chemotaxis.
- R386 (= R385) mutation to A: Strong decrease in 4-HBA transport.
- R398 (= R397) mutation to A: Abolishes 4-HBA transport.
Sites not aligning to the query:
- 444 H→A: No change in 4-HBA transport and chemotaxis.
Q5EXK5 3-hydroxybenzoate transporter MhbT from Klebsiella oxytoca (see paper)
35% identity, 95% coverage: 12:435/447 of query aligns to 5:427/452 of Q5EXK5
- D82 (= D89) mutation to A: Loss of activity.
- V311 (≠ R319) mutation to W: Loss of activity.
- D314 (≠ Q322) mutation to A: Loss of activity.
P77589 3-(3-hydroxy-phenyl)propionate transporter; 3HPP transporter; 3-(3-hydroxy-phenyl)propionate:H(+) symporter; 3HPP:H(+) symporter from Escherichia coli (strain K12) (see paper)
35% identity, 90% coverage: 30:432/447 of query aligns to 13:383/403 of P77589
- E27 (≠ D41) mutation to A: Lack of 3HPP transport activity.; mutation to D: Slight decrease in 3HPP transport activity.
- D75 (= D89) mutation D->A,E: Lack of 3HPP transport activity.
- A272 (≠ R319) mutation to H: 30% increase in 3HPP transport activity.
- K276 (≠ R323) mutation to D: Lack of 3HPP transport activity.
Q8NLB7 Gentisate transporter from Corynebacterium glutamicum (strain ATCC 13032 / DSM 20300 / BCRC 11384 / JCM 1318 / LMG 3730 / NCIMB 10025) (see paper)
29% identity, 84% coverage: 38:412/447 of query aligns to 51:401/444 of Q8NLB7
- D54 (= D41) mutation to A: Loss of transport activity.; mutation to E: Retains 50% of its transport activity.
- D57 (= D44) mutation to A: Loss of transport activity.; mutation to E: Retains 50% of its transport activity.
- R103 (= R90) mutation to A: Loss of transport activity.
- W309 (≠ R319) mutation to V: Loss of transport activity.
- D312 (≠ Q322) mutation to A: Loss of transport activity.
- R313 (= R323) mutation to A: Loss of transport activity.
- I317 (≠ T327) mutation I->H,Y: Loss of transport activity.
- R386 (= R397) mutation to A: Loss of transport activity.
Q9NSA0 Solute carrier family 22 member 11; Organic anion transporter 4; OAT4; Organic anion:dicarboxylate exchanger OAT4 from Homo sapiens (Human) (see 3 papers)
26% identity, 82% coverage: 40:406/447 of query aligns to 114:482/550 of Q9NSA0
- G241 (= G165) mutation G->L,S,V: Strongly reduced cell surface expression and estrone 3-sulfate transport.
- H305 (vs. gap) mutation to A: Reduced cell surface expression and estrone 3-sulfate transport; when associated with A-47; A-52; A-83 and A-469.
- G400 (= G318) mutation G->L,S,V: Strongly reduced cell surface expression and estrone 3-sulfate transport.
- H469 (≠ L393) mutation to A: Slightly reduced estrone 3-sulfate transport. Reduced cell surface expression and estrone 3-sulfate transport; when associated with A-47; A-52; A-83 and A-305.
Sites not aligning to the query:
- 39 N→Q: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface location; when associated with Q-56; Q-63 and Q-99.
- 47 H→A: Reduced cell surface expression and estrone 3-sulfate transport. Reduced cell surface expression and estrone 3-sulfate transport; when associated with A-52; A-83; A-305 and A-469.
- 52 H→A: Slightly reduced estrone 3-sulfate transport. Reduced cell surface expression and estrone 3-sulfate transport; when associated with A-47; A-83; A-305 and A-469.
- 56 N→Q: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface expression; when associated with Q-39; Q-63 and Q-99.
- 63 N→Q: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface expression; when associated with Q-39; Q-56 and Q-99.
- 83 H→A: Reduced cell surface expression and estrone 3-sulfate transport; when associated with A-47; A-52; A-305 and A-469.
- 99 N→Q: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface expression; when associated with Q-39; Q-56 and Q-63.
8bvsA Cryo-em structure of rat slc22a6 bound to tenofovir (see paper)
26% identity, 81% coverage: 74:434/447 of query aligns to 124:477/502 of 8bvsA
8bvtA Cryo-em structure of rat slc22a6 bound to probenecid (see paper)
26% identity, 81% coverage: 74:434/447 of query aligns to 133:486/508 of 8bvtA
Sites not aligning to the query:
8bw7A Cryo-em structure of rat slc22a6 bound to alpha-ketoglutaric acid (see paper)
26% identity, 81% coverage: 74:434/447 of query aligns to 124:473/497 of 8bw7A
O57379 Solute carrier family 22 member 6; Organic anion transporter 1; Renal organic anion transporter 1; ROAT1; fROAT1 from Pseudopleuronectes americanus (Winter flounder) (Pleuronectes americanus) (see paper)
23% identity, 79% coverage: 52:406/447 of query aligns to 129:487/562 of O57379
- K394 (vs. gap) mutation to A: Reduced transport activity.
- R478 (= R397) mutation to D: Reduced transport activity.
Sites not aligning to the query:
- 34 H→I: Reduced transport activity.
Q02563 Synaptic vesicle glycoprotein 2A; Synaptic vesicle protein 2; Synaptic vesicle protein 2A from Rattus norvegicus (Rat) (see 2 papers)
25% identity, 45% coverage: 13:212/447 of query aligns to 151:362/742 of Q02563
- DMCLS 196:200 (≠ DWGVS 58:62) mutation Missing: No change in uptake of C.botulinum neurotoxin type D (BoNT/D, botD) or C.botulinum neurotoxin type E (BoNT/E).
- 321:331 (vs. 183:183, 9% identical) mutation Missing: No change in uptake of BoNT/D or BoNT/E.
Sites not aligning to the query:
- 498 N→Q: No change in uptake of BoNT/E or C.botulinum neurotoxin type A (BoNT/A, botA) by mouse SV2A/SV2B knockout neurons; SV2A apparent molecular weight decreases. No change in uptake of BoNT/E; when associated with Q-548. No change in uptake of BoNT/D.
- 548 N→Q: No change in uptake of BoNT/E or BoNT/A by mouse SV2A/SV2B knockout neurons; SV2A apparent molecular weight decreases. No change in uptake of BoNT/E; when associated with Q-498. No change in uptake of BoNT/D.
- 570:573 RLVN→TLVQ: Restores apparent molecular weight to wild-type, does not restore uptake of BoNT/E.
- 573 N→Q: BoNT/E not taken up by mouse SV2A/SV2B knockout neurons, decreased uptake of BoNT/A; SV2A apparent molecular weight decreases. No change in uptake of BoNT/D.
Q9Z2I6 Synaptic vesicle glycoprotein 2C; Synaptic vesicle protein 2C from Rattus norvegicus (Rat) (see 3 papers)
24% identity, 44% coverage: 17:212/447 of query aligns to 141:348/727 of Q9Z2I6
Sites not aligning to the query:
- 1:57 Interaction with SYT1
- 529:566 (Microbial infection) C.botulinum neurotoxin type A-binding
- 559 N→A: Loss of one glycosylation site. No effect on C.botulinum neurotoxin type A (BoNT/A, botA) binding, but reduces the uptake of BoNT/A.
Q4U2R8 Solute carrier family 22 member 6; Organic anion transporter 1; hOAT1; PAH transporter; hPAHT; Renal organic anion transporter 1; hROAT1 from Homo sapiens (Human) (see 6 papers)
26% identity, 81% coverage: 74:435/447 of query aligns to 142:502/563 of Q4U2R8
- Y230 (≠ F162) mutation to A: Loss of membrane protein expression and little uptake of cidofovir.
- K431 (≠ F363) mutation to A: Decrease in the level of membrane protein expression and 70 % loss of PAH uptake.
- F438 (≠ Q369) mutation to A: Decrease in the level of membrane protein expression, 70 % loss of PAH uptake, increased affinity for cidofovir, lower Vmax for PAH, and lower Km and Vmax for cidofovir.
Sites not aligning to the query:
- 7 L → P: in dbSNP:rs1415632329
- 30 L→A: Complete loss of PAH transport activity.
- 36 T→A: Complete loss of PAH transport activity.
- 39 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→Q: Complete loss of PAH transport activity.
- 50 R → H: lower Vmax; increase in substrate affinity and increase in the affinity for the nucleoside phosphonate analogs cidofovir, adefovir and tenofovir; dbSNP:rs11568626
- 56 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 92 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 97 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 104 P → L: in dbSNP:rs11568627
- 113 modified: carbohydrate, N-linked (GlcNAc...) asparagine
Q496J9 Synaptic vesicle glycoprotein 2C from Homo sapiens (Human) (see 4 papers)
24% identity, 44% coverage: 17:212/447 of query aligns to 141:348/727 of Q496J9
Sites not aligning to the query:
- 519:563 (Microbial infection) C.botulinum neurotoxin type A-binding
- 534 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 559 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→A: No change in interaction with C.botulinum neurotoxin type A heavy chain (botA, BoNT/A HC). Decreased molecular weight probably due to glycosylation loss, decreased interaction with BoNT/A HC.; N→Q: Decreased molecular weight probably due to glycosylation loss, decreased binding to BoNT/A HC. Greater reduction in weight; when associated with Q-565.
- 561 S→A: Decreased molecular weight probably due to glycosylation loss, decreased binding to BoNT/A HC.
- 563 F→A: No longer interacts with BoNT/A HC.
- 565 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→Q: Decreased molecular weight probably due to glycosylation loss, no change in binding to BoNT/A heavy chain. Greater reduction in weight; when associated with Q-559.
O08966 Solute carrier family 22 member 1; Organic cation transporter 1; mOCT1 from Mus musculus (Mouse) (see paper)
28% identity, 43% coverage: 76:269/447 of query aligns to 159:354/556 of O08966
Sites not aligning to the query:
- 32 L→F: Increased trospium uptake. Increased trospium affinity. No change in fenoterol uptake.
- 36 Y→C: Decreased fenoterol uptake. Decreased fenoterol affinity. No change in trospium uptake. No change in terbutaline affinity.
P36035 Carboxylic acid transporter protein homolog from Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) (see paper)
26% identity, 72% coverage: 89:410/447 of query aligns to 200:514/616 of P36035
- K338 (= K243) modified: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Sites not aligning to the query:
- 1 modified: Initiator methionine, Removed
- 9 modified: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Q8XFG0 Multidrug resistance protein MdtM; MDR efflux pump; Multidrug efflux transporter styMdtM; MDR transporter styMdtM from Salmonella typhi (see paper)
32% identity, 34% coverage: 57:209/447 of query aligns to 48:196/413 of Q8XFG0
- R111 (= R124) mutation to A: Abolishes the transport activity. Results in a decrease in secondary structure content of the transporter.; mutation to K: Abolishes the transport activity. Completely destabilizes the structure of the transporter.
Sites not aligning to the query:
- 25 D→A: Abolishes the transport activity. Retains the capacity to bind substrate, albeit at a lower level.; D→E: Does not affect the transport activity.
Q63089 Solute carrier family 22 member 1; Organic cation transporter 1; rOCT1 from Rattus norvegicus (Rat) (see 4 papers)
27% identity, 43% coverage: 76:269/447 of query aligns to 159:354/556 of Q63089
- C179 (≠ V96) mutation to A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; S-322; A-358; A-418; S-437; A-470 and A-474.
- M212 (≠ F129) mutation to L: No change in TEA and MPP(+) uptake.
- V213 (≠ G130) mutation to G: Decreased TEA uptake. No change in MPP(+) uptake.
- S214 (≠ L131) mutation to G: Decreased TEA and MPP(+) uptake.
- K215 (≠ G132) mutation to Q: Loss of TEA and MPP(+) uptake activity.; mutation to R: Loss of TEA and MPP(+) uptake activity.
- G216 (≠ S133) mutation to A: Decreased TEA and MPP(+) uptake.
- S217 (≠ I134) mutation to G: No change in TEA and MPP(+) uptake.
- W218 (≠ M135) mutation to F: Decreased guanidine, histamine, serotonin and TEA uptake. No change in MPP(+) uptake. No change in TEA and MPP(+) affinity. Decreased TEA Vmax. No change in MPP(+) Vmax.; mutation to L: Decreased guanidine, histamine, serotonin, TEA and MPP(+) uptake. Decreased TEA affinity. No change in MPP(+) affinity. Decreased TEA and MPP(+) Vmax.; mutation to Y: Decreased guanidine, histamine, serotonin and TEA uptake. No change in MPP(+) uptake. Increased TEA and MPP(+) affinity. Decreased TEA and MPP(+) Vmax.
- V219 (≠ P136) mutation to L: No change in TEA and MPP(+) uptake.
- S220 (≠ N137) mutation to I: Decreased TEA and MPP(+) uptake.
- G221 (≠ A138) mutation to A: Decreased TEA and MPP(+) uptake.
- Y222 (≠ M139) mutation to F: No change in guanidine, histamine, serotonin, TEA and MPP(+) uptake. Increased TEA affinity. No change in MPP(+) affinity. Decreased TEA Vmax. No change in MPP(+) Vmax.; mutation to L: Decreased guanidine, serotonin, TEA and MPP(+) uptake. No change in histamine uptake. Increased TEA and MPP(+) affinity. Decreased TEA and MPP(+) Vmax.
- T223 (≠ A140) mutation to I: Decreased TEA uptake. No change in MPP(+) uptake.
- L224 (= L141) mutation to V: Decreased TEA and MPP(+) uptake.
- I225 (≠ V142) mutation to G: No change in TEA and MPP(+) uptake.
- T226 (≠ G143) mutation to A: Decreased TEA uptake. No change in MPP(+) uptake.
- E227 (= E144) mutation to D: Loss of TEA and MPP(+) uptake activity.; mutation to Q: Loss of TEA and MPP(+) uptake activity.
- F228 (= F145) mutation to I: No change in TEA and MPP(+) uptake.
- V229 (≠ S146) mutation to A: Decreased TEA and MPP(+) uptake.; mutation to L: Loss of TEA and MPP(+) uptake activity.
- S286 (= S207) mutation to A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-292; A-296; A-328 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-292; A-296; A-328 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-292; A-296; A-328 and A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-292; A-296; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-292; A-296; A-328 and A-550.
- S292 (≠ L213) mutation to A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-296; A-328 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-286; A-296; A-328 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-296; A-328 and A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-296; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-296; A-328 and A-550.
- T296 (≠ P217) mutation to A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-328; A-550. Significant increase of the ASP uptake by PKA activation. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-328; A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-328; A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-328 and A-550.
- C322 (≠ V240) mutation to S: Reduces the activation by MMTS. Abolishes the activation by MMTs; when associated with M-451. Choline affinity is increased fivefold by MMTS. Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; A-358; A-418; S-437; A-470 and A-474. Choline affinity is increased four- to fivefold; when associated with M-451.
- S328 (≠ K246) mutation to A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-296 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-296 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-296; A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-296 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-296 and A-550.
Sites not aligning to the query:
- 26 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-155; A-179; S-322; A-358; A-418; S-437; A-470 and A-474.
- 155 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-179; S-322; A-358; A-418; S-437; A-470 and A-474.
- 358 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-418; S-437; A-470 and A-474.
- 418 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; S-437; A-470 and A-474.
- 437 C→S: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-470 and A-474.
- 451 C→M: Reduces the activation by MMTS. Abolishes the activation by MMTs; when associated with S-322. Abolishes the effect of MMTs on choline-induced currents. Choline affinity is not influenced by MMTS. Choline affinity is increased four- to fivefold; when associated with S-322.
- 470 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-437 and A-474.
- 474 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-437 and A-470.
- 475 D→E: Decreased MPP(+) uptake, no change in MPP(+) affinity. Decreased NMN uptake, increased NMN affinity. Decreased choline uptake, increased choline affinity.; D→N: Decreased MPP(+) uptake.; D→R: Decreased MPP(+) uptake.
- 550 T→A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-296; A-328. Significant increase of the ASP uptake by PKA activation. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-296 and A-328. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-296; A-328. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-296 and A-328. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-296 and A-328.
P39386 Multidrug resistance protein MdtM; Multidrug resistance transporter MdtM; MDR transporter MdtM; Multidrug transporter MdtM from Escherichia coli (strain K12) (see 3 papers)
28% identity, 28% coverage: 83:209/447 of query aligns to 67:193/410 of P39386
- R108 (= R124) mutation to K: Decreases resistance to ethidium bromide and chloramphenicol. Retains the ability to bind chloramphenicol.
Sites not aligning to the query:
- 22 D→A: Lack of activity. Retains the ability to bind chloramphenicol, but cannot confer resistance to ethidium bromide and chloramphenicol. Cannot grow at pH 9.5 and 9.75.
Q9VCA2 Organic cation transporter protein from Drosophila melanogaster (Fruit fly) (see paper)
25% identity, 74% coverage: 74:406/447 of query aligns to 138:474/548 of Q9VCA2
Sites not aligning to the query:
- 97 modified: carbohydrate, N-linked (GlcNAc...) asparagine
O76082 Organic cation/carnitine transporter 2; High-affinity sodium-dependent carnitine cotransporter; Solute carrier family 22 member 5 from Homo sapiens (Human) (see 21 papers)
24% identity, 82% coverage: 40:404/447 of query aligns to 114:478/557 of O76082
- D115 (= D41) to G: in CDSP; carnitine transport reduced to less than 5% of wild-type; dbSNP:rs386134192
- V123 (≠ G49) to G: in CDSP; carnitine transport reduced to less than 20% of wild-type; dbSNP:rs748605096
- E131 (≠ D58) to D: in CDSP; uncertain significance; may affect splicing; reduces carnitine transport but the mutant retains 30% of wild-type activity
- A142 (≠ P68) to S: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains more than 25% of wild-type activity; dbSNP:rs151231558
- P143 (≠ V69) to L: in CDSP; carnitine transport reduced to less than 2% of wild-type; dbSNP:rs1178584184
- L144 (≠ F70) to F: in dbSNP:rs10040427
- V151 (vs. gap) to M: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains more than 60% of wild-type activity; dbSNP:rs386134193
- R169 (= R93) to P: in CDSP; loss of carnitine transport; to Q: in CDSP; loss of carnitine transport; dbSNP:rs121908889; to W: in CDSP; loss of carnitine transport; dbSNP:rs121908890
- V175 (vs. gap) to M: in CDSP; carnitine transport reduced to less than 10% of wild-type; dbSNP:rs781721860
- M177 (vs. gap) to V: in CDSP; carnitine transport reduced to less than 20% of wild-type; dbSNP:rs145068530
- M179 (≠ L99) to L: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains more than 40% of wild-type activity; dbSNP:rs386134196
- L186 (= L106) to P: in CDSP; loss of carnitine transport; dbSNP:rs386134197
- M205 (≠ F129) to R: in CDSP; loss of carnitine transport; dbSNP:rs796052033
- N210 (≠ I134) to S: in CDSP; loss of carnitine transport; dbSNP:rs386134198
- Y211 (≠ M135) to C: in CDSP; loss of carnitine transport; dbSNP:rs121908888
- A214 (= A138) to V: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains 30% of wild-type activity; dbSNP:rs386134199
- T219 (≠ G143) to K: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains 30% of wild-type activity
- S225 (= S149) to L: in CDSP; reduces carnitine transport to less than 20% of wild-type activity; dbSNP:rs386134205
- R227 (= R151) to H: in CDSP; reduces carnitine transport to less than 10% of wild-type activity; dbSNP:rs185551386
- F230 (≠ R154) to L: in CDSP; reduces carnitine transport to less than 1% of wild-type activity; dbSNP:rs756650860
- S231 (≠ M155) to F: in CDSP; loss of carnitine transport; dbSNP:rs386134206
- T232 (≠ M156) to M: in CDSP; reduces carnitine transport to less than 20% of wild-type activity; dbSNP:rs114269482
- A240 (= A168) to T: in CDSP; reduces carnitine transport to less than 2% of wild-type activity
- G242 (= G170) to V: in CDSP; loss of carnitine transport; dbSNP:rs72552728
- P247 (= P178) to R: in CDSP; loss of carnitine transport
- R254 (≠ V185) to Q: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains more than 30% of wild-type activity; dbSNP:rs200699819
- R257 (vs. gap) to W: in CDSP; reduces carnitine transport to less than 10% of wild-type activity; dbSNP:rs386134203
- T264 (≠ A191) to M: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains more than 40% of wild-type activity; dbSNP:rs201262157; to R: in CDSP; reduces carnitine transport to less than 5% of wild-type activity; dbSNP:rs201262157
- L269 (= L196) to P: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains more than 40% of wild-type activity
- S280 (= S207) to F: in CDSP; reduces carnitine transport to less than 1% of wild-type activity; dbSNP:rs386134208
- R282 (≠ Q209) to Q: in CDSP; reduces carnitine transport to 5% of wild-type activity; dbSNP:rs386134210
- W283 (≠ F210) to C: in CDSP; loss of carnitine transport; dbSNP:rs386134211; to R: in CDSP; reduces carnitine transport to less than 1% of wild-type activity; dbSNP:rs72552729
- A301 (≠ R226) to D: in CDSP; reduces carnitine transport to less-than-1% to 3% of wild-type activity; dbSNP:rs72552730
- I312 (≠ V233) to V: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains 70% of wild-type activity; dbSNP:rs77300588
- E317 (≠ T238) to K: in CDSP; uncertain significance; no effect on carnitine transport; dbSNP:rs774792831
- I348 (≠ L269) to T: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains 60% of wild-type activity; dbSNP:rs150544263
- W351 (≠ F272) to R: in CDSP; loss of carnitine transport; dbSNP:rs68018207
- M352 (= M273) mutation to R: Loss of both carnitine and organic cation transport functionalities. No effect on protein expression.
- S355 (≠ I276) to L: in CDSP; reduces carnitine transport to less than 2% of wild-type activity; dbSNP:rs1385634398
- Y358 (= Y279) to N: in CDSP; loss of carnitine transport; dbSNP:rs61731073
- L363 (≠ N283) to P: in CDSP; loss of carnitine transport; dbSNP:rs386134214
- L394 (= L317) natural variant: Missing (in CDSP; reduces carnitine transport to 5% of wild-type activity)
- P398 (≠ I321) to L: in CDSP; reduces carnitine transport to less than 1% of wild-type activity; dbSNP:rs144547521
- R399 (≠ Q322) to Q: in CDSP; carnitine transport is reduced to less than 1% of normal; dbSNP:rs121908891; to W: in CDSP; reduces carnitine transport to less than 5% of wild-type activity; dbSNP:rs267607054
- S412 (= S332) to G: in CDSP; uncertain significance; no effect on carnitine transport
- V439 (≠ I365) to G: in CDSP; reduces carnitine transport to less than 1% of wild-type activity
- T440 (≠ V366) to M: in CDSP; loss of carnitine transport; dbSNP:rs72552732
- A442 (≠ G368) to I: in CDSP; reduces carnitine transport to less than 20% of wild-type activity; requires 2 nucleotide substitutions; dbSNP:rs267607053
- F443 (≠ Q369) to V: in CDSP; reduces carnitine transport to less than 1% of wild-type
- V446 (= V372) to F: in CDSP; reduces carnitine transport to less than 1% of wild-type; dbSNP:rs72552733
- Y447 (≠ N373) to C: in CDSP; loss of carnitine transport; dbSNP:rs386134218
- V448 (≠ A374) to L: in CDSP; reduces carnitine transport to less than 20% of wild-type; dbSNP:rs386134219
- Y449 (≠ L375) to D: in CDSP; uncertain significance; reduces carnitine transport to less than 20% of wild-type; dbSNP:rs11568514
- E452 (≠ T378) to K: in CDSP; reduces carnitine transport to less than 5% of wild-type; dbSNP:rs72552734
- P455 (= P381) to R: in CDSP; loss of carnitine transport; dbSNP:rs1408166345
- G462 (= G388) to V: in CDSP; reduces carnitine transport to less than 5% of wild-type
- S467 (≠ L393) to C: in CDSP; reduces carnitine transport to less than 20% of wild-type activity; dbSNP:rs60376624
- T468 (≠ G394) to R: in CDSP; markedly reduced carnitine transport compared to the wild-type protein; less than 1% of wild-type activity; dbSNP:rs386134221
- S470 (≠ G396) to F: in CDSP; loss of carnitine transport; dbSNP:rs386134222
- R471 (= R397) to H: in CDSP; reduces carnitine transport to less than 2% of wild-type; dbSNP:rs386134223; to P: in CDSP; loss of carnitine transport
- L476 (≠ V402) to R: in CDSP; loss of carnitine transport
- P478 (= P404) to L: in CDSP; loss of carnitine transport but stimulated organic cation transport; no effect on protein expression; dbSNP:rs72552735
Sites not aligning to the query:
- 12 G → S: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains 50% of wild-type activity; dbSNP:rs139203363
- 15 G → W: in CDSP; carnitine transport reduced to less than 20% of wild-type; dbSNP:rs267607052
- 16 P → L: in CDSP; loss of carnitine transport
- 17 F → L: in CDSP; carnitine transport reduced to less than 20% of wild-type; dbSNP:rs11568520
- 19 R → P: in CDSP; carnitine transport is reduced to less than 5% of normal; dbSNP:rs72552723
- 20 L → H: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains 50% of wild-type activity; dbSNP:rs144020613
- 22 natural variant: Missing (in CDSP; reduces carnitine transport to less than 1% of normal)
- 26 S → N: in CDSP; carnitine transport reduced to less than 6% of wild-type; dbSNP:rs772578415
- 28 S → I: in CDSP; carnitine transport reduced to 1% of wild-type; dbSNP:rs72552724
- 32 N → S: in CDSP; carnitine transport reduced to less than 1% of wild-type; dbSNP:rs72552725
- 44 A → V: in CDSP; carnitine transport reduced to less than 10% of wild-type; dbSNP:rs199689597
- 46 P → L: in CDSP; carnitine transport reduced to less than 5% of wild-type; dbSNP:rs377767445; P → S: in CDSP; carnitine transport is reduced to less than 5% of normal; dbSNP:rs202088921
- 50 C → Y: in CDSP; loss of carnitine transport
- 57 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 66 T → P: in CDSP; carnitine transport reduced to 2% of wild-type
- 75 R → P: in CDSP; carnitine transport reduced to 2% of wild-type; dbSNP:rs757711838
- 83 R → L: in CDSP; loss of carnitine transport; dbSNP:rs72552726
- 91 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→Q: Reduces expression to 50%. No effect on carnitine transporter activity.
- 93 S → W: in CDSP; loss of carnitine transport; dbSNP:rs386134190
- 95 L → V: in CDSP; uncertain significance; reduces carnitine transport but the mutant retains 30% of wild-type activity; dbSNP:rs386134191
- 96 G → A: in CDSP; carnitine transport reduced to 20% of wild-type; dbSNP:rs377767450
- 481 V → F: reduces carnitine transport but the mutant retains more than 60% of wild-type activity; dbSNP:rs11568513; V → I: in dbSNP:rs11568513
- 488 R → C: in CDSP; reduces carnitine transport to less than 10% of wild-type; dbSNP:rs377216516; R → H: in CDSP; uncertain significance; reduces carnitine transport to 40% of wild-type; dbSNP:rs28383481
- 507 L → S: in CDSP; reduces carnitine transport to 5% of wild-type; dbSNP:rs1157198543
- 508 F → L: in dbSNP:rs11568521
- 530 M → V: in dbSNP:rs11568524
- 549 P → S: reduces carnitine transport but the mutant retains more than 20% of wild-type activity; dbSNP:rs11568525
Query Sequence
>HSERO_RS05600 FitnessBrowser__HerbieS:HSERO_RS05600
MSIHTSGALPTVHVDQVVEQGRFGAFQFGLLLLCGLCLIIDGFDVQAMGYVAPAIIADWG
VSKASLGPVFGAGLFGMLLGSLVLTPVGDRYGRRPVLILSTLFFALCMLATPMVTTLDQL
LVLRFITGFGLGSIMPNAMALVGEFSPSSSRVTRMMLVSCGFTVGAAAGGFVSAALIPAY
GWHAVFWVGGAVPLVLGLAMLVWLPESIQFLVLHRRPRTQVARWLRKLDPNIVIDDKTEV
VVKETKAEGMPVAALFRDGRAGVTVLLWLISFMNLINLYFLSNWLPTLIRDAGYSTSMAV
LIGTSLQVGGVIGTLSLGRFIQRFGFTRVLGSCFLLACLSIALIGKLATVPALLFVAVIV
AGFCIVGGQPAVNALAGTFYPTTLRSTGIGWALGIGRIGSVVGPVIGGQLIALQWTNASL
FLAAAVPALISALTIARLHRTAQGVSA
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