No paralogue variants have been mapped to residue 1 for SCN5A.
| SCN5A | ---->M<AN-F-L-------------LPRGTSSFRRF | 16 |
| SCN1A | ---M>E<QT-V-L-------------VPPGPDSFNFF | 17 |
| SCN2A | ---M>A<QS-V-L-------------VPPGPDSFRFF | 17 |
| SCN3A | ---M>A<QA-L-L-------------VPPGPESFRLF | 17 |
| SCN4A | MARP>S<LC-T-L-------------VPLGPECLRPF | 20 |
| SCN7A | ---->-<---M-L-------------ASPEPKGLVPF | 13 |
| SCN8A | ---M>A<AR-L-L-------------APPGPDSFKPF | 17 |
| SCN9A | ---->-<MA-M-L-------------PPPGPQSFVHF | 15 |
| SCN10A | ---->M<EF-P-I-------------GSLETNNFRRF | 16 |
| SCN11A | -MDD>R<CY-P-V-------------IFPDERNFRPF | 19 |
| CACNA1A | MARF>-<----GD----EM-PARYGG----------- | 14 |
| CACNA1B | MVRF>-<----GD----EL-GGRYGG----------- | 14 |
| CACNA1C | MVNE>N<TR--MYIPEENHQGSNYGS----------- | 22 |
| CACNA1D | MMMM>-<----MMMKKMQHQRQQQAD--------H-- | 20 |
| CACNA1E | MARF>-<----GE----AV-VARPGS----------- | 14 |
| CACNA1F | MSES>-<----E----GG----KDTT----------- | 11 |
| CACNA1G | MDEE>-<ED--GA-------------GAEESGQP-R- | 17 |
| CACNA1H | MTEG>-<ARAADE--V-RV-P--LGAPPPGPAALVGA | 28 |
| CACNA1I | MAE->-<----SA-------------SPPSSSAAAPA | 16 |
| CACNA1S | MEP->-<------------------------------ | 3 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M1I | c.3G>A | Inherited Arrhythmia | BrS | rs199473550 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||