No paralogue variants have been mapped to residue 910 for SCN5A.
| SCN5A | HAFLIIFRILCGE-WIETMWDCMEV----->S<GQSLCLLVFLLVMVIGNLVVLNLFLALLLS | 940 |
| SCN1A | HSFLIVFRVLCGE-WIETMWDCMEV----->A<GQAMCLTVFMMVMVIGNLVVLNLFLALLLS | 993 |
| SCN2A | HSFLIVFRVLCGE-WIETMWDCMEV----->A<GQTMCLTVFMMVMVIGNLVVLNLFLALLLS | 984 |
| SCN3A | HSFLIVFRVLCGE-WIETMWDCMEV----->A<GQTMCLIVFMLVMVIGNLVVLNLFLALLLS | 985 |
| SCN4A | HSFLIVFRILCGE-WIETMWDCMEV----->A<GQAMCLTVFLMVMVIGNLVVLNLFLALLLS | 803 |
| SCN7A | HSFLNVFRILCGE-WVETLWDCMEV----->A<GQSWCIPFYLMVILIGNLLVLYLFLA-LVS | 729 |
| SCN8A | HSFLIVFRVLCGE-WIETMWDCMEV----->A<GQAMCLIVFMMVMVIGNLVVLNLFLALLLS | 978 |
| SCN9A | HSFLIVFRVLCGE-WIETMWDCMEV----->A<GQAMCLIVYMMVMVIGNLVVLNLFLALLLS | 958 |
| SCN10A | HSFLIVFRILCGE-WIENMWACMEV----->G<QKSICLILFLTVMVLGNLVVLNLFIALLLN | 891 |
| SCN11A | HSFLVVFRILCGE-WIENMWECMQEAN--->A<SSSLCVIVFILITVIGKLVVLNLFIALLLN | 812 |
| CACNA1A | AAIMTVFQILTGEDWNEVMYDGIKSQGGV->Q<GGMVFSIYFIVLTLFGNYTLLNVFLAIAVD | 715 |
| CACNA1B | AAILTVFQILTGEDWNAVMYHGIESQGGV->S<KGMFSSFYFIVLTLFGNYTLLNVFLAIAVD | 711 |
| CACNA1C | QSLLTVFQILTGEDWNSVMYDGIMAYGGPS>F<PGMLVCIYFIILFICGNYILLNVFLAIAVD | 754 |
| CACNA1D | QALLTVFQILTGEDWNAVMYDGIMAYGGPS>S<SGMIVCIYFIILFICGNYILLNVFLAIAVD | 773 |
| CACNA1E | AAIMTVFQILTGEDWNEVMYNGIRSQGGV->S<SGMWSAIYFIVLTLFGNYTLLNVFLAIAVD | 704 |
| CACNA1F | QALLTVFQILTGEDWNVVMYDGIMAYGGPF>F<PGMLVCIYFIILFICGNYILLNVFLAIAVD | 759 |
| CACNA1G | WAIVTVFQILTQEDWNKVLYNGMAS-T-S->-<--SWAALYFIALMTFGNYVLFNLLVAILVE | 965 |
| CACNA1H | WAIVTVFQILTQEDWNVVLYNGMAS-T-S->-<--SWAALYFVALMTFGNYVLFNLLVAILVE | 1016 |
| CACNA1I | WAIVTVFQILTQEDWNVVLYNGMAS-T-S->-<--PWASLYFVALMTFGNYVLFNLLVAILVE | 863 |
| CACNA1S | QALISVFQVLTGEDWTSMMYNGIMAYGGPS>Y<PGMLVCIYFIILFVCGNYILLNVFLAIAVD | 662 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S910L | c.2729C>T | Inherited Arrhythmia | BrS | rs199473175 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | ||
| 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 | |||