No paralogue variants have been mapped to residue 1795 for SCN5A.
| SCN5A | NMYIAIILENFSVATEESTEPLSEDDFDMF>Y<EIWEKFDPEATQFIEYSVLSDFADALSEPL | 1825 |
| SCN1A | NMYIAVILENFSVATEESAEPLSEDDFEMF>Y<EVWEKFDPDATQFMEFEKLSQFAAALEPPL | 1839 |
| SCN2A | NMYIAVILENFSVATEESAEPLSEDDFEMF>Y<EVWEKFDPDATQFIEFAKLSDFADALDPPL | 1829 |
| SCN3A | NMYIAVILENFSVATEESAEPLSEDDFEMF>Y<EVWEKFDPDATQFIEFSKLSDFAAALDPPL | 1824 |
| SCN4A | NMYIAIILENFNVATEESSEPLGEDDFEMF>Y<ETWEKFDPDATQFIAYSRLSDFVDTLQEPL | 1651 |
| SCN7A | NMYIVVVMEFLNIASKKKNKTLSEDDFRKF>F<QVWKRFDPDRTQYIDSSKLSDFAAALDPPL | 1549 |
| SCN8A | NMYIAIILENFSVATEESADPLSEDDFETF>Y<EIWEKFDPDATQFIEYCKLADFADALEHPL | 1819 |
| SCN9A | NMYIAVILENFSVATEESTEPLSEDDFEMF>Y<EVWEKFDPDATQFIEFSKLSDFAAALDPPL | 1802 |
| SCN10A | NMYIAVILENFNVATEESTEPLSEDDFDMF>Y<ETWEKFDPEATQFITFSALSDFADTLSGPL | 1775 |
| SCN11A | NMYIAVILENFNTATEESEDPLGEDDFDIF>Y<EVWEKFDPEATQFIKYSALSDFADALPEPL | 1657 |
| CACNA1A | NLFVAVIMDNFEYLTRDSSI-LGPHHLDEY>V<RVWAEYDPAACGRIHYKDMYSLLRVISPPL | 1863 |
| CACNA1B | NLFVAVIMDNFEYLTRDSSI-LGPHHLDEF>I<RVWAEYDPAACGRISYNDMFEMLKHMSPPL | 1761 |
| CACNA1C | NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<RIWAEYDPEAKGRIKHLDVVTLLRRIQPPL | 1528 |
| CACNA1D | NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<RIWSEYDPEAKGRIKHLDVVTLLRRIQPPL | 1536 |
| CACNA1E | NLFVAVIMDNFEYLTRDSSI-LGPHHLDEF>V<RVWAEYDRAACGRIHYTEMYEMLTLMSPPL | 1775 |
| CACNA1F | NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<RIWSEYDPGAKGRIKHLDVVALLRRIQPPL | 1493 |
| CACNA1G | NVVIAVLMKHLEESNKEAKE---EAELEAE>L<ELEMKT-LSPQPHSPLGSPF-LWPGVEGPD | 1899 |
| CACNA1H | NVVVAVLMKHLEESNKEARE---DAELDAE>I<ELEMAQGPGSARRVDADRP---------PL | 1901 |
| CACNA1I | NVVVAVLMKHLDDSNKEAQE---DAEMDAE>L<ELEMAHGLGPGPRLPTGSPGAPGR---GPG | 1777 |
| CACNA1S | NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF>K<AIWAEYDPEAKGRIKHLDVVTLLRRIQPPL | 1433 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y1795C | c.5384A>G | Inherited Arrhythmia | LQTS | rs137854614 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem. 2001 276(33):30623-30. 11410597 | ||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. Heart Rhythm. 2008 5(10):1434-40. 18929331 | |||
| Inherited Arrhythmia | LQTS | Successful elimination of significant arrhythmia burden with flecainide in an adolescent with long QT syndrome type 3. Congenit Heart Dis. 2012 7(4):E42-5. doi: 10.1111/j.1747-0803.2011.00596.x. 22129298 | |||
| p.Y1795H | c.5383T>C | Inherited Arrhythmia | BrS | rs137854615 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation. 2000 102(20):2509-15. 11076825 | ||
| Inherited Arrhythmia | BrS | Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem. 2001 276(33):30623-30. 11410597 | |||
| Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | |||