No paralogue variants have been mapped to residue 746 for SCN5A.
| SCN5A | DPFTDLTITMCIVLNTLFMALEHYNMTSEF>E<EMLQVGNLVFTGIFTAEMTFKIIALDPYYY | 776 |
| SCN1A | DPFVDLAITICIVLNTLFMAMEHYPMTDHF>N<NVLTVGNLVFTGIFTAEMFLKIIAMDPYYY | 827 |
| SCN2A | DPFVDLAITICIVLNTLFMAMEHYPMTEQF>S<SVLSVGNLVFTGIFTAEMFLKIIAMDPYYY | 818 |
| SCN3A | DPFVDLAITICIVLNTLFMAMEHYPMTEQF>S<SVLTVGNLVFTGIFTAEMVLKIIAMDPYYY | 819 |
| SCN4A | DPFVDLGITICIVLNTLFMAMEHYPMTEHF>D<NVLTVGNLVFTGIFTAEMVLKLIAMDPYEY | 637 |
| SCN7A | APFTDLFLIICIILNVCFLTLEHYPMSKQT>N<TLLNIGNLVFIGIFTAEMIFKIIAMHPYGY | 564 |
| SCN8A | DPFVDLAITICIVLNTLFMAMEHHPMTPQF>E<HVLAVGNLVFTGIFTAEMFLKLIAMDPYYY | 812 |
| SCN9A | DPFVDLAITICIVLNTLFMAMEHHPMTEEF>K<NVLAIGNLVFTGIFAAEMVLKLIAMDPYEY | 792 |
| SCN10A | DPFAELTITLCIVVNTIFMAMEHHGMSPTF>E<AMLQIGNIVFTIFFTAEMVFKIIAFDPYYY | 724 |
| SCN11A | DPFTELAITICIIINTVFLAMEHHKMEASF>E<KMLNIGNLVFTSIFIAEMCLKIIALDPYHY | 636 |
| CACNA1A | TQAFYWTVLSLVALNTLCVAIVHYNQPEWL>S<DFLYYAEFIFLGLFMSEMFIKMYGLGTRPY | 546 |
| CACNA1B | AQSFYWVVLCVVALNTLCVAMVHYNQPRRL>T<TTLYFAEFVFLGLFLTEMSLKMYGLGPRSY | 542 |
| CACNA1C | SNVFYWLVIFLVFLNTLTIASEHYNQPNWL>T<EVQDTANKALLALFTAEMLLKMYSLGLQAY | 583 |
| CACNA1D | SVTFYWLVIVLVFLNTLTISSEHYNQPDWL>T<QIQDIANKVLLALFTCEMLVKMYSLGLQAY | 602 |
| CACNA1E | SQVFYWIVLSLVALNTACVAIVHHNQPQWL>T<HLLYYAEFLFLGLFLLEMSLKMYGMGPRLY | 535 |
| CACNA1F | SNACYWAVLLLVFLNTLTIASEHHGQPVWL>T<QIQEYANKVLLCLFTVEMLLKLYGLGPSAY | 588 |
| CACNA1G | SKYFGRGIMIAILVNTLSMGIEYHEQPEEL>T<NALEISNIVFTSLFALEMLLKLLVYGPFGY | 802 |
| CACNA1H | SKYFSRGIMMAILVNTLSMGVEYHEQPEEL>T<NALEISNIVFTSMFALEMLLKLLACGPLGY | 852 |
| CACNA1I | SKYFNRGIMMAILVNTVSMGIEHHEQPEEL>T<NILEICNVVFTSMFALEMILKLAAFGLFDY | 699 |
| CACNA1S | SKVFYWLVILIVALNTLSIASEHHNQPLWL>T<RLQDIANRVLLSLFTTEMLMKMYGLGLRQY | 491 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E746K | c.2236G>A | Inherited Arrhythmia | BrS | rs199473582 | SIFT: tolerated Polyphen: benign |
| 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 | ||
| Inherited Arrhythmia | BrS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||