No paralogue variants have been mapped to residue 1578 for SCN5A.
| SCN5A | ETDDQSPEKINILAKINLLFVAIFTGECIV>K<LAALR-HYYFTNSWNIFDFVVVILSIVGTV | 1607 |
| SCN1A | ETDDQSEYVTTILSRINLVFIVLFTGECVL>K<LISLR-HYYFTIGWNIFDFVVVILSIVGMF | 1620 |
| SCN2A | ETDDQSQEMTNILYWINLVFIVLFTGECVL>K<LISLR-YYYFTIGWNIFDFVVVILSIVGMF | 1610 |
| SCN3A | ETDDQGKYMTLVLSRINLVFIVLFTGEFVL>K<LVSLR-HYYFTIGWNIFDFVVVILSIVGMF | 1605 |
| SCN4A | ETDNQSQLKVDILYNINMIFIIIFTGECVL>K<MLALR-QYYFTVGWNIFDFVVVILSIVGLA | 1432 |
| SCN7A | DTDVQSLQMSIALYWINSIFVMLYTMECIL>K<LIAFR-CFYFTIAWNIFDFMVVIFSITGLC | 1330 |
| SCN8A | ETDTQSKQMENILYWINLVFVIFFTCECVL>K<MFALR-HYYFTIGWNIFDFVVVILSIVGMF | 1601 |
| SCN9A | EKEGQSQHMTEVLYWINVVFIILFTGECVL>K<LISLR-HYYFTVGWNIFDFVVVIISIVGMF | 1583 |
| SCN10A | ETDDQSEEKTKILGKINQFFVAVFTGECVM>K<MFALR-QYYFTNGWNVFDFIVVVLSIASLI | 1555 |
| SCN11A | ESYNQPKAMKSILDHLNWVFVVIFTLECLI>K<IFALR-QYYFTNGWNLFDCVVVLLSIVSTM | 1445 |
| CACNA1A | KFYGASVAYENALRVFNIVFTSLFSLECVL>K<VMAFGILNYFRDAWNIFDFVTVLGSITDIL | 1646 |
| CACNA1B | KFYDAPYEYELMLKCLNIVFTSMFSMECVL>K<IIAFGVLNYFRDAWNVFDFVTVLGSITDIL | 1552 |
| CACNA1C | QHYGQSCLFKIAMNILNMLFTGLFTVEMIL>K<LIAFKPKHYFCDAWNTFDALIVVGSIVDIA | 1299 |
| CACNA1D | QHYEQSKMFNDAMDILNMVFTGVFTVEMVL>K<VIAFKPKGYFSDAWNTFDSLIVIGSIIDVA | 1305 |
| CACNA1E | KYYSAPCTYELALKYLNIAFTMVFSLECVL>K<VIAFGFLNYFRDTWNIFDFITVIGSITEII | 1558 |
| CACNA1F | QHYEQTAPFNYAMDILNMVFTGLFTIEMVL>K<IIAFKPKHYFTDAWNTFDALIVVGSIVDIA | 1270 |
| CACNA1G | EHYQQPQILDEALKICNYIFTVIFVLESVF>K<LVAFGFRRFFQDRWNQLDLAIVLLSIMGIT | 1691 |
| CACNA1H | EHYNQPKSLDEALKYCNYVFTIVFVFEAAL>K<LVAFGFRRFFKDRWNQLDLAIVLLSLMGIT | 1697 |
| CACNA1I | EHYNQPTSLETALKYCNYMFTTVFVLEAVL>K<LVAFGLRRFFKDRWNQLDLAIVLLSVMGIT | 1567 |
| CACNA1S | QHYNQSEQMNHISDILNVAFTIIFTLEMIL>K<LMAFKARGYFGDPWNVFDFLIVIGSIIDVI | 1198 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K1578N | c.4734G>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Cavotricuspid Isthmus Ablation and Subcutaneous Monitoring Device Implantation in a 2-Year-Old Baby with 2 SCN5A Mutations, Sinus Node Dysfunction, Atrial Flutter Recurrences, and Drug Induced Long-QT Syndrome: A Tricky Case of Pediatric Overlap Syndrome? J Cardiovasc Electrophysiol. 2015 26(3):346-349. doi: 10.1111/jce.12570. 25346400 | |||