SCN5A | NGSRGD---CGSPAVGILFFTTYIIISFLI>V<VNMYIAIILENFSVATEESTEPLSEDDFDM | 1793 |
SCN1A | SSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM | 1807 |
SCN2A | SSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM | 1797 |
SCN3A | SSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM | 1792 |
SCN4A | TSVKGD---CGNPSIGICFFCSYIIISFLI>V<VNMYIAIILENFNVATEESSEPLGEDDFEM | 1619 |
SCN7A | TQVRGD---CGNPSVGIFYFVSYILISWLI>I<VNMYIVVVMEFLNIASKKKNKTLSEDDFRK | 1517 |
SCN8A | SGFKGD---CGNPSVGIFFFVSYIIISFLI>V<VNMYIAIILENFSVATEESADPLSEDDFET | 1787 |
SCN9A | SSVEGD---CGNPSVGIFYFVSYIIISFLV>V<VNMYIAVILENFSVATEESTEPLSEDDFEM | 1770 |
SCN10A | NGTRGD---CGSPAVGIIFFTTYIIISFLI>M<VNMYIAVILENFNVATEESTEPLSEDDFDM | 1743 |
SCN11A | -SSSEN---CHLPGIATSYFVSYIIISFLI>V<VNMYIAVILENFNTATEESEDPLGEDDFDI | 1625 |
CACNA1A | ---T-R--ECGN-EFAYFYFVSFIFLCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE | 1831 |
CACNA1B | ---A-NATECGS-DFAYFYFVSFIFLCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE | 1729 |
CACNA1C | STEGETP--CGS-SFAVFYFISFYMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE | 1496 |
CACNA1D | PGE-EYT--CGS-NFAIVYFISFYMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE | 1504 |
CACNA1E | QNEN-E--RCGT-DLAYVYFVSFIFFCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE | 1743 |
CACNA1F | PGE-EFT--CGS-NFAIAYFISFFMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE | 1461 |
CACNA1G | -C-------YNT-VISPIYFVSFVLTAQFV>L<VNVVIAVLMKHLEESNKEAKE---EAELEA | 1869 |
CACNA1H | -C---LS--YLP-ALSPVYFVTFVLVAQFV>L<VNVVVAVLMKHLEESNKEARE---DAELDA | 1878 |
CACNA1I | -C---LS--SLQ-FVSPLYFVSFVLTAQFV>L<INVVVAVLMKHLDDSNKEAQE---DAEMDA | 1748 |
CACNA1S | PGE-EYT--CGT-NFAYYYFISFYMLCAFL>V<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE | 1401 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.V1763M | c.5287G>A |
Inherited Arrhythmia | LQTS | rs199473631 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS |
A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia. Cardiovasc Res. 2004 64(2):268-78.
15485686 |
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 |
Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4.
16379539 |
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 |
Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells. Int J Cardiol. 2013 168(6):5277-86. doi: 10.1016/j.ijcard.2013.08.015.
23998552 |