No paralogue variants have been mapped to residue 1784 for SCN5A.
SCN5A | TYIIISFLIVVNMYIAIILENFSVATEEST>E<PLSEDDFDMFYEIWEKFDPEATQFIEYSVL | 1814 |
SCN1A | SYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFMEFEKL | 1828 |
SCN2A | SYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFIEFAKL | 1818 |
SCN3A | SYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFIEFSKL | 1813 |
SCN4A | SYIIISFLIVVNMYIAIILENFNVATEESS>E<PLGEDDFEMFYETWEKFDPDATQFIAYSRL | 1640 |
SCN7A | SYILISWLIIVNMYIVVVMEFLNIASKKKN>K<TLSEDDFRKFFQVWKRFDPDRTQYIDSSKL | 1538 |
SCN8A | SYIIISFLIVVNMYIAIILENFSVATEESA>D<PLSEDDFETFYEIWEKFDPDATQFIEYCKL | 1808 |
SCN9A | SYIIISFLVVVNMYIAVILENFSVATEEST>E<PLSEDDFEMFYEVWEKFDPDATQFIEFSKL | 1791 |
SCN10A | TYIIISFLIMVNMYIAVILENFNVATEEST>E<PLSEDDFDMFYETWEKFDPEATQFITFSAL | 1764 |
SCN11A | SYIIISFLIVVNMYIAVILENFNTATEESE>D<PLGEDDFDIFYEVWEKFDPEATQFIKYSAL | 1646 |
CACNA1A | SFIFLCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEYVRVWAEYDPAACGRIHYKDM | 1852 |
CACNA1B | SFIFLCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEFIRVWAEYDPAACGRISYNDM | 1750 |
CACNA1C | SFYMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWAEYDPEAKGRIKHLDV | 1517 |
CACNA1D | SFYMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWSEYDPEAKGRIKHLDV | 1525 |
CACNA1E | SFIFFCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEFVRVWAEYDRAACGRIHYTEM | 1764 |
CACNA1F | SFFMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWSEYDPGAKGRIKHLDV | 1482 |
CACNA1G | SFVLTAQFVLVNVVIAVLMKHLEESNKEAK>E<---EAELEAELELEMKT-LSPQPHSPLGSP | 1889 |
CACNA1H | TFVLVAQFVLVNVVVAVLMKHLEESNKEAR>E<---DAELDAEIELEMAQGPGSARRVDADRP | 1899 |
CACNA1I | SFVLTAQFVLINVVVAVLMKHLDDSNKEAQ>E<---DAEMDAELELEMAHGLGPGPRLPTGSP | 1769 |
CACNA1S | SFYMLCAFLVINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKAIWAEYDPEAKGRIKHLDV | 1422 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1784K | c.5350G>A | Inherited Arrhythmia | LQTS,BrS | rs137854601 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation. 1999 99(24):3165-71. 10377081 | ||
Inherited Arrhythmia | LQTS | The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7. 10961955 | |||
Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | |||
Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | |||
Inherited Arrhythmia | LQTS | Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. Pacing Clin Electrophysiol. 2003 26(8):1660-7. 12877697 | |||
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 | The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest. 2008 118(6):2219-29. 18451998 | |||
Inherited Arrhythmia | BrS | Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782 | |||
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 | BrS | Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465 | |||
Inherited Arrhythmia | BrS | 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 | |||
Inherited Arrhythmia | LQTS | Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res. 2000 46(1):55-65. 10727653 | |||
Inherited Arrhythmia | LQTS | High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. Circ J. 2014 78(8):1974-9. 24871449 | |||
Inherited Arrhythmia | LQTS | The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014 16(10):741-50. doi: 10.1038/gim.2014.29. 24784157 | |||
Inherited Arrhythmia | LQTS | Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants. J Physiol. 2015 593(18):4201-23. doi: 10.1113/JP270139. 26131924 |