No paralogue variants have been mapped to residue 1604 for SCN5A.
SCN5A | CIVKLAALR-HYYFTNSWNIFDFVVVILSI>V<GTVLSDIIQ--------------------- | 1613 |
SCN1A | CVLKLISLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAELIE--------------------- | 1626 |
SCN2A | CVLKLISLR-YYYFTIGWNIFDFVVVILSI>V<GMFLAELIE--------------------- | 1616 |
SCN3A | FVLKLVSLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAEMIE--------------------- | 1611 |
SCN4A | CVLKMLALR-QYYFTVGWNIFDFVVVILSI>V<GLALSDLIQ--------------------- | 1438 |
SCN7A | CILKLIAFR-CFYFTIAWNIFDFMVVIFSI>T<GLCLPMTVG--------------------- | 1336 |
SCN8A | CVLKMFALR-HYYFTIGWNIFDFVVVILSI>V<GMFLADIIE--------------------- | 1607 |
SCN9A | CVLKLISLR-HYYFTVGWNIFDFVVVIISI>V<GMFLADLIE--------------------- | 1589 |
SCN10A | CVMKMFALR-QYYFTNGWNVFDFIVVVLSI>A<SLIFSAILKS-------------------- | 1562 |
SCN11A | CLIKIFALR-QYYFTNGWNLFDCVVVLLSI>V<STMISTLENQ-------------------- | 1452 |
CACNA1A | CVLKVMAFGILNYFRDAWNIFDFVTVLGSI>T<DILVTEFGNN-------------------- | 1653 |
CACNA1B | CVLKIIAFGVLNYFRDAWNVFDFVTVLGSI>T<DILVTEIAET-------------------- | 1559 |
CACNA1C | MILKLIAFKPKHYFCDAWNTFDALIVVGSI>V<DIAITEVNPAE----HTQ----CSPSMNAE | 1318 |
CACNA1D | MVLKVIAFKPKGYFSDAWNTFDSLIVIGSI>I<DVALSEADPTE----SENVPVPTATPGNSE | 1328 |
CACNA1E | CVLKVIAFGFLNYFRDTWNIFDFITVIGSI>T<EIILTDSKLV-------------------- | 1565 |
CACNA1F | MVLKIIAFKPKHYFTDAWNTFDALIVVGSI>V<DIAVTEVNNGG----HLG----E----SSE | 1285 |
CACNA1G | SVFKLVAFGFRRFFQDRWNQLDLAIVLLSI>M<GITLEEIEVN-------------------- | 1698 |
CACNA1H | AALKLVAFGFRRFFKDRWNQLDLAIVLLSL>M<GITLEEIEMS-------------------- | 1704 |
CACNA1I | AVLKLVAFGLRRFFKDRWNQLDLAIVLLSV>M<GITLEEIEIN-------------------- | 1574 |
CACNA1S | MILKLMAFKARGYFGDPWNVFDFLIVIGSI>I<DVILSEIDTFLASSGGLYCLGGGCGNVDPD | 1225 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1604M | c.4810G>A | Inherited Arrhythmia | BrS | rs199473280 | 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 |