No paralogue variants have been mapped to residue 1557 for SCN5A.
SCN5A | KQAFDVTIMFLICLNMVTMMVETDDQSPEK>I<NILAKINLLFVAIFTGECIVKLAALR-HYY | 1586 |
SCN1A | RQVFDISIMILICLNMVTMMVETDDQSEYV>T<TILSRINLVFIVLFTGECVLKLISLR-HYY | 1599 |
SCN2A | KQVFDISIMILICLNMVTMMVETDDQSQEM>T<NILYWINLVFIVLFTGECVLKLISLR-YYY | 1589 |
SCN3A | RQVFDISIMILICLNMVTMMVETDDQGKYM>T<LVLSRINLVFIVLFTGEFVLKLVSLR-HYY | 1584 |
SCN4A | KQAFDITIMILICLNMVTMMVETDNQSQLK>V<DILYNINMIFIIIFTGECVLKMLALR-QYY | 1411 |
SCN7A | SQAFNVIVMVLICFQAIAMMIDTDVQSLQM>S<IALYWINSIFVMLYTMECILKLIAFR-CFY | 1309 |
SCN8A | QQAFDIVIMMLICLNMVTMMVETDTQSKQM>E<NILYWINLVFVIFFTCECVLKMFALR-HYY | 1580 |
SCN9A | NQAFDISIMVLICLNMVTMMVEKEGQSQHM>T<EVLYWINVVFIILFTGECVLKLISLR-HYY | 1562 |
SCN10A | RQAFDITIMVLICLNMITMMVETDDQSEEK>T<KILGKINQFFVAVFTGECVMKMFALR-QYY | 1534 |
SCN11A | SQIFDIIIISLIILNMISMMAESYNQPKAM>K<SILDHLNWVFVVIFTLECLIKIFALR-QYY | 1424 |
CACNA1A | SPPFEYTIMAMIALNTIVLMMKFYGASVAY>E<NALRVFNIVFTSLFSLECVLKVMAFGILNY | 1625 |
CACNA1B | SPPFEYFIMAMIALNTVVLMMKFYDAPYEY>E<LMLKCLNIVFTSMFSMECVLKIIAFGVLNY | 1531 |
CACNA1C | STYFEYLMFVLILLNTICLAMQHYGQSCLF>K<IAMNILNMLFTGLFTVEMILKLIAFKPKHY | 1278 |
CACNA1D | SSPFEYMMFVLIMLNTLCLAMQHYEQSKMF>N<DAMDILNMVFTGVFTVEMVLKVIAFKPKGY | 1284 |
CACNA1E | SPSFEYTIMAMIALNTVVLMMKYYSAPCTY>E<LALKYLNIAFTMVFSLECVLKVIAFGFLNY | 1537 |
CACNA1F | SAAFEYLMFLLILLNTVALAMQHYEQTAPF>N<YAMDILNMVFTGLFTIEMVLKIIAFKPKHY | 1249 |
CACNA1G | SHYLDLFITGVIGLNVVTMAMEHYQQPQIL>D<EALKICNYIFTVIFVLESVFKLVAFGFRRF | 1670 |
CACNA1H | SHYLDLFITFIICVNVITMSMEHYNQPKSL>D<EALKYCNYVFTIVFVFEAALKLVAFGFRRF | 1676 |
CACNA1I | SHYLDIFITFIICLNVVTMSLEHYNQPTSL>E<TALKYCNYMFTTVFVLEAVLKLVAFGLRRF | 1546 |
CACNA1S | SSYFEYLMFALIMLNTICLGMQHYNQSEQM>N<HISDILNVAFTIIFTLEMILKLMAFKARGY | 1177 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1557V | c.4669A>G | Putative Benign | SIFT: Polyphen: |