No paralogue variants have been mapped to residue 1596 for SCN5A.
SCN5A | FVAIFTGECIVKLAALR-HYYFTNSWNIFD>F<VVVILSIVGTVLSDIIQ------------- | 1613 |
SCN1A | FIVLFTGECVLKLISLR-HYYFTIGWNIFD>F<VVVILSIVGMFLAELIE------------- | 1626 |
SCN2A | FIVLFTGECVLKLISLR-YYYFTIGWNIFD>F<VVVILSIVGMFLAELIE------------- | 1616 |
SCN3A | FIVLFTGEFVLKLVSLR-HYYFTIGWNIFD>F<VVVILSIVGMFLAEMIE------------- | 1611 |
SCN4A | FIIIFTGECVLKMLALR-QYYFTVGWNIFD>F<VVVILSIVGLALSDLIQ------------- | 1438 |
SCN7A | FVMLYTMECILKLIAFR-CFYFTIAWNIFD>F<MVVIFSITGLCLPMTVG------------- | 1336 |
SCN8A | FVIFFTCECVLKMFALR-HYYFTIGWNIFD>F<VVVILSIVGMFLADIIE------------- | 1607 |
SCN9A | FIILFTGECVLKLISLR-HYYFTVGWNIFD>F<VVVIISIVGMFLADLIE------------- | 1589 |
SCN10A | FVAVFTGECVMKMFALR-QYYFTNGWNVFD>F<IVVVLSIASLIFSAILKS------------ | 1562 |
SCN11A | FVVIFTLECLIKIFALR-QYYFTNGWNLFD>C<VVVLLSIVSTMISTLENQ------------ | 1452 |
CACNA1A | FTSLFSLECVLKVMAFGILNYFRDAWNIFD>F<VTVLGSITDILVTEFGNN------------ | 1653 |
CACNA1B | FTSMFSMECVLKIIAFGVLNYFRDAWNVFD>F<VTVLGSITDILVTEIAET------------ | 1559 |
CACNA1C | FTGLFTVEMILKLIAFKPKHYFCDAWNTFD>A<LIVVGSIVDIAITEVNPAE----HTQ---- | 1310 |
CACNA1D | FTGVFTVEMVLKVIAFKPKGYFSDAWNTFD>S<LIVIGSIIDVALSEADPTE----SENVPVP | 1320 |
CACNA1E | FTMVFSLECVLKVIAFGFLNYFRDTWNIFD>F<ITVIGSITEIILTDSKLV------------ | 1565 |
CACNA1F | FTGLFTIEMVLKIIAFKPKHYFTDAWNTFD>A<LIVVGSIVDIAVTEVNNGG----HLG---- | 1281 |
CACNA1G | FTVIFVLESVFKLVAFGFRRFFQDRWNQLD>L<AIVLLSIMGITLEEIEVN------------ | 1698 |
CACNA1H | FTIVFVFEAALKLVAFGFRRFFKDRWNQLD>L<AIVLLSLMGITLEEIEMS------------ | 1704 |
CACNA1I | FTTVFVLEAVLKLVAFGLRRFFKDRWNQLD>L<AIVLLSVMGITLEEIEIN------------ | 1574 |
CACNA1S | FTIIFTLEMILKLMAFKARGYFGDPWNVFD>F<LIVIGSIIDVILSEIDTFLASSGGLYCLGG | 1217 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1596I | c.4786T>A | Inherited Arrhythmia | LQTS,AF | rs199473278 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
Inherited Arrhythmia | LQTS | Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc Res. 2011 89(4):786-93. 21051419 | |||
Inherited Arrhythmia | AF | High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113 | |||
Other Cardiac Phenotype | SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction. Mol Med Rep. 2014 10(4):2039-44. doi: 10.3892/mmr.2014.2401. 25051102 | ||||
Inherited Arrhythmia | LQTS | Polygenic Case of Long QT Syndrome Confirmed through Functional Characterization Informs the Interpretation of Genetic Screening Results. HeartRhythm Case Rep. 2015 1(4):201-205. 26213684 | |||
Inherited Arrhythmia | LQTS | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | |||
p.F1596C | c.4787T>G | Putative Benign | SIFT: Polyphen: |