No paralogue variants have been mapped to residue 1574 for SCN5A.
| SCN5A | TMMVETDDQSPEKINILAKINLLFVAIFTG>E<CIVKLAALR-HYYFTNSWNIFDFVVVILSI | 1603 |
| SCN1A | TMMVETDDQSEYVTTILSRINLVFIVLFTG>E<CVLKLISLR-HYYFTIGWNIFDFVVVILSI | 1616 |
| SCN2A | TMMVETDDQSQEMTNILYWINLVFIVLFTG>E<CVLKLISLR-YYYFTIGWNIFDFVVVILSI | 1606 |
| SCN3A | TMMVETDDQGKYMTLVLSRINLVFIVLFTG>E<FVLKLVSLR-HYYFTIGWNIFDFVVVILSI | 1601 |
| SCN4A | TMMVETDNQSQLKVDILYNINMIFIIIFTG>E<CVLKMLALR-QYYFTVGWNIFDFVVVILSI | 1428 |
| SCN7A | AMMIDTDVQSLQMSIALYWINSIFVMLYTM>E<CILKLIAFR-CFYFTIAWNIFDFMVVIFSI | 1326 |
| SCN8A | TMMVETDTQSKQMENILYWINLVFVIFFTC>E<CVLKMFALR-HYYFTIGWNIFDFVVVILSI | 1597 |
| SCN9A | TMMVEKEGQSQHMTEVLYWINVVFIILFTG>E<CVLKLISLR-HYYFTVGWNIFDFVVVIISI | 1579 |
| SCN10A | TMMVETDDQSEEKTKILGKINQFFVAVFTG>E<CVMKMFALR-QYYFTNGWNVFDFIVVVLSI | 1551 |
| SCN11A | SMMAESYNQPKAMKSILDHLNWVFVVIFTL>E<CLIKIFALR-QYYFTNGWNLFDCVVVLLSI | 1441 |
| CACNA1A | VLMMKFYGASVAYENALRVFNIVFTSLFSL>E<CVLKVMAFGILNYFRDAWNIFDFVTVLGSI | 1642 |
| CACNA1B | VLMMKFYDAPYEYELMLKCLNIVFTSMFSM>E<CVLKIIAFGVLNYFRDAWNVFDFVTVLGSI | 1548 |
| CACNA1C | CLAMQHYGQSCLFKIAMNILNMLFTGLFTV>E<MILKLIAFKPKHYFCDAWNTFDALIVVGSI | 1295 |
| CACNA1D | CLAMQHYEQSKMFNDAMDILNMVFTGVFTV>E<MVLKVIAFKPKGYFSDAWNTFDSLIVIGSI | 1301 |
| CACNA1E | VLMMKYYSAPCTYELALKYLNIAFTMVFSL>E<CVLKVIAFGFLNYFRDTWNIFDFITVIGSI | 1554 |
| CACNA1F | ALAMQHYEQTAPFNYAMDILNMVFTGLFTI>E<MVLKIIAFKPKHYFTDAWNTFDALIVVGSI | 1266 |
| CACNA1G | TMAMEHYQQPQILDEALKICNYIFTVIFVL>E<SVFKLVAFGFRRFFQDRWNQLDLAIVLLSI | 1687 |
| CACNA1H | TMSMEHYNQPKSLDEALKYCNYVFTIVFVF>E<AALKLVAFGFRRFFKDRWNQLDLAIVLLSL | 1693 |
| CACNA1I | TMSLEHYNQPTSLETALKYCNYMFTTVFVL>E<AVLKLVAFGLRRFFKDRWNQLDLAIVLLSV | 1563 |
| CACNA1S | CLGMQHYNQSEQMNHISDILNVAFTIIFTL>E<MILKLMAFKARGYFGDPWNVFDFLIVIGSI | 1194 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E1574K | c.4720G>A | Inherited Arrhythmia | BrS | rs199473620 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(1):16-23. 19808440 | ||
| 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 | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||