SCN5A | MAYVSENIKLG-----------------NL>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS | 246 |
SCN1A | FAYVTEFVDLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS | 243 |
SCN2A | FAYVTEFVDLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS | 244 |
SCN3A | MAYVTEFVDLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS | 243 |
SCN4A | MAYLTEFVDLG-----------------NI>S<ALRTFRVLRALKTITVIPGLKTIVGALIQS | 246 |
SCN7A | FEVIIRYSPLD-----------------FI>P<TLQTARTLRILKIIPLNQGLKSLVGVLIHC | 233 |
SCN8A | MAYITEFVNLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS | 247 |
SCN9A | FAYLTEFVNLG-----------------NV>S<ALRTFRVLRALKTISVIPGLKTIVGALIQS | 241 |
SCN10A | LAYVGTAIDLR-----------------GI>S<GLRTFRVLRALKTVSVIPGLKVIVGALIHS | 242 |
SCN11A | IAIVSYIPGIT----------------IKL>L<PLRTFRVFRALKAISVVSRLKVIVGALLRS | 249 |
CACNA1A | TGILATVGTEF-----------------DL>R<TLRAVRVLRPLKLVSGIPSLQVVLKSIMKA | 222 |
CACNA1B | TGILATAGTDF-----------------DL>R<TLRAVRVLRPLKLVSGIPSLQVVLKSIMKA | 219 |
CACNA1C | VGLFSAILEQATKA-DGANALGGKGAGFDV>K<ALRAFRVLRPLRLVSGVPSLQVVLNSIIKA | 264 |
CACNA1D | VGLFSVILEQLTKETEGGNHSSGKSGGFDV>K<ALRAFRVLRPLRLVSGVPSLQVVLNSIIKA | 267 |
CACNA1E | SGILATAGTHFN-------------THVDL>R<TLRAVRVLRPLKLVSGIPSLQIVLKSIMKA | 217 |
CACNA1F | VGLFSVLLEQGPGRPGDAPHTGGKPGGFDV>K<ALRAFRVLRPLRLVSGVPSLHIVLNSIMKA | 233 |
CACNA1G | AGMLEYSLDLQ---------------NVSF>S<AVRTVRVLRPLRAINRVPSMRILVTLLLDT | 207 |
CACNA1H | AGMMEYSLDGH---------------NVSL>S<AIRTVRVLRPLRAINRVPSMRILVTLLLDT | 226 |
CACNA1I | AGMVEYSLDLQ---------------NINL>S<AIRTVRVLRPLKAINRVPSMRILVNLLLDT | 205 |
CACNA1S | LGVFTVILEQVNVIQSHTAPMSSKGAGLDV>K<ALRAFRVLRPLRLVSGVPSLQVVLNSIFKA | 192 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.S216L | c.647C>T |
Conflict | | rs41276525 | SIFT: deleterious Polyphen: probably damaging |
Reports | Cardiomyopathy | DCM |
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7.
15851227 |
Inherited Arrhythmia | LQTS |
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7.
17210839 |
Cardiomyopathy | DCM |
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008 1(1):21-6.
19412328 |
Benign | |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60.
19841300 |
Benign | |
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46.
20129283 |
Cardiomyopathy | DCM |
A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization. Cardiovasc Res. 2011 91(4):606-16.
21705349 |
Cardiomyopathy | DCM |
Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007 115(3):368-76.
17210841 |
Inherited Arrhythmia | LQTS |
High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23.
22378279 |
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 |
Inherited Arrhythmia | LQTS |
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009.
23158531 |
Unknown | |
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet. 2013
23299917 |
Inherited Arrhythmia | LQTS |
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013
23414114 |
Inherited Arrhythmia | LQTS |
Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013
23465283 |
Cardiomyopathy | DCM |
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297.
26159999 |
Cardiomyopathy | DCM |
Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3.
27287068 |