No paralogue variants have been mapped to residue 1553 for SCN5A.
SCN5A | DIVTKQAFDVTIMFLICLNMVTMMVETDDQ>S<PEKINILAKINLLFVAIFTGECIVKLAALR | 1583 |
SCN1A | DFVTRQVFDISIMILICLNMVTMMVETDDQ>S<EYVTTILSRINLVFIVLFTGECVLKLISLR | 1596 |
SCN2A | DFVTKQVFDISIMILICLNMVTMMVETDDQ>S<QEMTNILYWINLVFIVLFTGECVLKLISLR | 1586 |
SCN3A | DFVTRQVFDISIMILICLNMVTMMVETDDQ>G<KYMTLVLSRINLVFIVLFTGEFVLKLVSLR | 1581 |
SCN4A | DLVTKQAFDITIMILICLNMVTMMVETDNQ>S<QLKVDILYNINMIFIIIFTGECVLKMLALR | 1408 |
SCN7A | DVVTSQAFNVIVMVLICFQAIAMMIDTDVQ>S<LQMSIALYWINSIFVMLYTMECILKLIAFR | 1306 |
SCN8A | DFVTQQAFDIVIMMLICLNMVTMMVETDTQ>S<KQMENILYWINLVFVIFFTCECVLKMFALR | 1577 |
SCN9A | DLVTNQAFDISIMVLICLNMVTMMVEKEGQ>S<QHMTEVLYWINVVFIILFTGECVLKLISLR | 1559 |
SCN10A | DIVTRQAFDITIMVLICLNMITMMVETDDQ>S<EEKTKILGKINQFFVAVFTGECVMKMFALR | 1531 |
SCN11A | DIVTSQIFDIIIISLIILNMISMMAESYNQ>P<KAMKSILDHLNWVFVVIFTLECLIKIFALR | 1421 |
CACNA1A | QFVVSPPFEYTIMAMIALNTIVLMMKFYGA>S<VAYENALRVFNIVFTSLFSLECVLKVMAFG | 1621 |
CACNA1B | TFVVSPPFEYFIMAMIALNTVVLMMKFYDA>P<YEYELMLKCLNIVFTSMFSMECVLKIIAFG | 1527 |
CACNA1C | YVVNSTYFEYLMFVLILLNTICLAMQHYGQ>S<CLFKIAMNILNMLFTGLFTVEMILKLIAFK | 1274 |
CACNA1D | YVVNSSPFEYMMFVLIMLNTLCLAMQHYEQ>S<KMFNDAMDILNMVFTGVFTVEMVLKVIAFK | 1280 |
CACNA1E | HFVVSPSFEYTIMAMIALNTVVLMMKYYSA>P<CTYELALKYLNIAFTMVFSLECVLKVIAFG | 1533 |
CACNA1F | ATVNSAAFEYLMFLLILLNTVALAMQHYEQ>T<APFNYAMDILNMVFTGLFTIEMVLKIIAFK | 1245 |
CACNA1G | HLCTSHYLDLFITGVIGLNVVTMAMEHYQQ>P<QILDEALKICNYIFTVIFVLESVFKLVAFG | 1666 |
CACNA1H | SLCTSHYLDLFITFIICVNVITMSMEHYNQ>P<KSLDEALKYCNYVFTIVFVFEAALKLVAFG | 1672 |
CACNA1I | SMCTSHYLDIFITFIICLNVVTMSLEHYNQ>P<TSLETALKYCNYMFTTVFVLEAVLKLVAFG | 1542 |
CACNA1S | YIVTSSYFEYLMFALIMLNTICLGMQHYNQ>S<EQMNHISDILNVAFTIIFTLEMILKLMAFK | 1173 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1553R | c.4657A>C | Inherited Arrhythmia | BrS | rs199473272 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465 |