SCN5A | D---CGSPAVGILFFTTYIIISFLIVVNMY>I<AIILENFSVATEESTEPLSEDDFDMFYEIW | 1798 |
SCN1A | D---CGNPSVGIFFFVSYIIISFLVVVNMY>I<AVILENFSVATEESAEPLSEDDFEMFYEVW | 1812 |
SCN2A | D---CGNPSVGIFFFVSYIIISFLVVVNMY>I<AVILENFSVATEESAEPLSEDDFEMFYEVW | 1802 |
SCN3A | D---CGNPSVGIFFFVSYIIISFLVVVNMY>I<AVILENFSVATEESAEPLSEDDFEMFYEVW | 1797 |
SCN4A | D---CGNPSIGICFFCSYIIISFLIVVNMY>I<AIILENFNVATEESSEPLGEDDFEMFYETW | 1624 |
SCN7A | D---CGNPSVGIFYFVSYILISWLIIVNMY>I<VVVMEFLNIASKKKNKTLSEDDFRKFFQVW | 1522 |
SCN8A | D---CGNPSVGIFFFVSYIIISFLIVVNMY>I<AIILENFSVATEESADPLSEDDFETFYEIW | 1792 |
SCN9A | D---CGNPSVGIFYFVSYIIISFLVVVNMY>I<AVILENFSVATEESTEPLSEDDFEMFYEVW | 1775 |
SCN10A | D---CGSPAVGIIFFTTYIIISFLIMVNMY>I<AVILENFNVATEESTEPLSEDDFDMFYETW | 1748 |
SCN11A | N---CHLPGIATSYFVSYIIISFLIVVNMY>I<AVILENFNTATEESEDPLGEDDFDIFYEVW | 1630 |
CACNA1A | R--ECGN-EFAYFYFVSFIFLCSFLMLNLF>V<AVIMDNFEYLTRDSSI-LGPHHLDEYVRVW | 1836 |
CACNA1B | NATECGS-DFAYFYFVSFIFLCSFLMLNLF>V<AVIMDNFEYLTRDSSI-LGPHHLDEFIRVW | 1734 |
CACNA1C | TP--CGS-SFAVFYFISFYMLCAFLIINLF>V<AVIMDNFDYLTRDWSI-LGPHHLDEFKRIW | 1501 |
CACNA1D | YT--CGS-NFAIVYFISFYMLCAFLIINLF>V<AVIMDNFDYLTRDWSI-LGPHHLDEFKRIW | 1509 |
CACNA1E | E--RCGT-DLAYVYFVSFIFFCSFLMLNLF>V<AVIMDNFEYLTRDSSI-LGPHHLDEFVRVW | 1748 |
CACNA1F | FT--CGS-NFAIAYFISFFMLCAFLIINLF>V<AVIMDNFDYLTRDWSI-LGPHHLDEFKRIW | 1466 |
CACNA1G | ----YNT-VISPIYFVSFVLTAQFVLVNVV>I<AVLMKHLEESNKEAKE---EAELEAELELE | 1874 |
CACNA1H | LS--YLP-ALSPVYFVTFVLVAQFVLVNVV>V<AVLMKHLEESNKEARE---DAELDAEIELE | 1883 |
CACNA1I | LS--SLQ-FVSPLYFVSFVLTAQFVLINVV>V<AVLMKHLDDSNKEAQE---DAEMDAELELE | 1753 |
CACNA1S | YT--CGT-NFAYYYFISFYMLCAFLVINLF>V<AVIMDNFDYLTRDWSI-LGPHHLDEFKAIW | 1406 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.I1768V | c.5302A>G |
Inherited Arrhythmia | LQTS | rs199473311 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS |
A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction. Physiol Genomics. 2002 10(3):191-7.
12209021 |
Inherited Arrhythmia | LQTS |
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5.
12566525 |
Inherited Arrhythmia | LQTS |
Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14.
17905336 |
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 |
Cardiac channelopathy causing sudden death as revealed by molecular autopsy. Int J Legal Med. 2012
22370996 |
Inherited Arrhythmia | LQTS |
Mortality of inherited arrhythmia syndromes: insight into their natural history. Circ Cardiovasc Genet. 2012 5(2):183-9.
22373669 |
Inherited Arrhythmia | LQTS |
A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics. Cardiovasc Res. 2003 57(4):1072-8.
12650885 |
Inherited Arrhythmia | LQTS |
Follow up of a family with asymptomatic compound long QT syndrome mutations. Genet Couns. 2014 25(4):399-403.
25804018 |