SCN5A | EMGPIKSLRTLRALRPLRALSRFEGMRVVV>N<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1355 |
SCN1A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALLGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1368 |
SCN2A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALLGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1358 |
SCN3A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1356 |
SCN4A | ELGPIKSLRTLRALRPLRALSRFEGMRVVV>N<ALLGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1181 |
SCN7A | E---LKPLISMKFLRPLRVLSQFERMKVVV>R<ALIKTTLPTLNVFLVCLMIWLIFSIMGVDL | 1079 |
SCN8A | ELGAIKSLRTLRALRPLRALSRFEGMRVVV>N<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1348 |
SCN9A | DLGPIKSLRTLRALRPLRALSRFEGMRVVV>N<ALIGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1331 |
SCN10A | EVAPIKALRTLRALRPLRALSRFEGMRVVV>D<ALVGAIPSIMNVLLVCLIFWLIFSIMGVNL | 1302 |
SCN11A | -LMELKSFRTLRALRPLRALSQFEGMKVVV>N<ALIGAIPAILNVLLVCLIFWLVFCILGVYF | 1199 |
CACNA1A | DINTIKSLRVLRVLRPLKTIKRLPKLKAVF>D<CVVNSLKNVFNILIVYMLFMFIFAVVAVQL | 1398 |
CACNA1B | DINTIKSLRVLRVLRPLKTIKRLPKLKAVF>D<CVVNSLKNVLNILIVYMLFMFIFAVIAVQL | 1304 |
CACNA1C | AINVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CVFVAIRTIGNIVIVTTLLQFMFACIGVQL | 1050 |
CACNA1D | AISVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CVFVAIRTIGNIMIVTTLLQFMFACIGVQL | 1056 |
CACNA1E | DIKTIKSLRVLRVLRPLKTIKRLPKLKAVF>D<CVVTSLKNVFNILIVYKLFMFIFAVIAVQL | 1310 |
CACNA1F | AISVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CVFVAIRTIGNIMIVTTLLQFMFACIGVQL | 1021 |
CACNA1G | ILGMLRVLRLLRTLRPLRVISRAQGLKLVV>E<TLMSSLKPIGNIVVICCAFFIIFGILGVQL | 1433 |
CACNA1H | ILGVLRVLRLLRTLRPLRVISRAPGLKLVV>E<TLISSLRPIGNIVLICCAFFIIFGILGVQL | 1451 |
CACNA1I | ILGVLRVLRLLRTLRPLRVISRAPGLKLVV>E<TLISSLKPIGNIVLICCAFFIIFGILGVQL | 1327 |
CACNA1S | AISVVKILRVLRVLRPLRAINRAKGLKHVV>Q<CMFVAISTIGNIVLVTTLLQFMFACIGVQL | 949 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.N1325S | c.3974A>G |
Inherited Arrhythmia | LQTS | rs28937317 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS |
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet. 1995 4(9):1603-7.
8541846 |
Other Cardiac Phenotype | |
Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo. Cardiovasc Res. 2004 61(2):256-67.
14736542 |
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 |
Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14.
17905336 |
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 |
LQTS mutation N1325S in cardiac sodium channel gene SCN5A causes cardiomyocyte apoptosis, cardiac fibrosis and contractile dysfunction in mice. Int J Cardiol. 2011 147(2):239-45.
19762097 |
Inherited Arrhythmia | LQTS |
Multiple mechanisms of Na+ channel--linked long-QT syndrome. Circ Res. 1996 78(5):916-24.
8620612 |
Inherited Arrhythmia | LQTS |
Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci U S A. 1996 93(23):13200-5.
8917568 |