No paralogue variants have been mapped to residue 1613 for SCN5A.
| SCN5A | -HYYFTNSWNIFDFVVVILSIVGTVLSDII>Q<----------------------KYFFSPTL | 1621 |
| SCN1A | -HYYFTIGWNIFDFVVVILSIVGMFLAELI>E<----------------------KYFVSPTL | 1634 |
| SCN2A | -YYYFTIGWNIFDFVVVILSIVGMFLAELI>E<----------------------KYFVSPTL | 1624 |
| SCN3A | -HYYFTIGWNIFDFVVVILSIVGMFLAEMI>E<----------------------KYFVSPTL | 1619 |
| SCN4A | -QYYFTVGWNIFDFVVVILSIVGLALSDLI>Q<----------------------KYFVSPTL | 1446 |
| SCN7A | -CFYFTIAWNIFDFMVVIFSITGLCLPMTV>G<----------------------SYLVPPSL | 1344 |
| SCN8A | -HYYFTIGWNIFDFVVVILSIVGMFLADII>E<----------------------KYFVSPTL | 1615 |
| SCN9A | -HYYFTVGWNIFDFVVVIISIVGMFLADLI>E<----------------------TYFVSPTL | 1597 |
| SCN10A | -QYYFTNGWNVFDFIVVVLSIASLIFSAIL>K<S--------------------LQSYFSPTL | 1571 |
| SCN11A | -QYYFTNGWNLFDCVVVLLSIVSTMISTLE>N<Q--------------------EHIPFPPTL | 1461 |
| CACNA1A | ILNYFRDAWNIFDFVTVLGSITDILVTEFG>N<N-----------------------FINLSF | 1659 |
| CACNA1B | VLNYFRDAWNVFDFVTVLGSITDILVTEIA>E<T---------------------NNFINLSF | 1567 |
| CACNA1C | PKHYFCDAWNTFDALIVVGSIVDIAITEVN>P<AE----HTQ----CSPSMNAEENSRISITF | 1327 |
| CACNA1D | PKGYFSDAWNTFDSLIVIGSIIDVALSEAD>P<TE----SENVPVPTATPGNSEESNRISITF | 1337 |
| CACNA1E | FLNYFRDTWNIFDFITVIGSITEIILTDSK>L<V--------------------NTSGFNMSF | 1574 |
| CACNA1F | PKHYFTDAWNTFDALIVVGSIVDIAVTEVN>N<GG----HLG----E----SSEDSSRISITF | 1294 |
| CACNA1G | FRRFFQDRWNQLDLAIVLLSIMGITLEEIE>V<N--------------------ASLPINPTI | 1707 |
| CACNA1H | FRRFFKDRWNQLDLAIVLLSLMGITLEEIE>M<S--------------------AALPINPTI | 1713 |
| CACNA1I | LRRFFKDRWNQLDLAIVLLSVMGITLEEIE>I<N--------------------AALPINPTI | 1583 |
| CACNA1S | ARGYFGDPWNVFDFLIVIGSIIDVILSEID>T<FLASSGGLYCLGGGCGNVDPDESARISSAF | 1234 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q1613L | c.4838A>T | Inherited Arrhythmia | BrS | rs199473281 | SIFT: deleterious Polyphen: probably 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 | ||