Paralogue Annotation for SCN5A residue 1784

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1784
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1784

No paralogue variants have been mapped to residue 1784 for SCN5A.



SCN5ATYIIISFLIVVNMYIAIILENFSVATEEST>E<PLSEDDFDMFYEIWEKFDPEATQFIEYSVL1814
SCN1ASYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFMEFEKL1828
SCN2ASYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFIEFAKL1818
SCN3ASYIIISFLVVVNMYIAVILENFSVATEESA>E<PLSEDDFEMFYEVWEKFDPDATQFIEFSKL1813
SCN4ASYIIISFLIVVNMYIAIILENFNVATEESS>E<PLGEDDFEMFYETWEKFDPDATQFIAYSRL1640
SCN7ASYILISWLIIVNMYIVVVMEFLNIASKKKN>K<TLSEDDFRKFFQVWKRFDPDRTQYIDSSKL1538
SCN8ASYIIISFLIVVNMYIAIILENFSVATEESA>D<PLSEDDFETFYEIWEKFDPDATQFIEYCKL1808
SCN9ASYIIISFLVVVNMYIAVILENFSVATEEST>E<PLSEDDFEMFYEVWEKFDPDATQFIEFSKL1791
SCN10ATYIIISFLIMVNMYIAVILENFNVATEEST>E<PLSEDDFDMFYETWEKFDPEATQFITFSAL1764
SCN11ASYIIISFLIVVNMYIAVILENFNTATEESE>D<PLGEDDFDIFYEVWEKFDPEATQFIKYSAL1646
CACNA1ASFIFLCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEYVRVWAEYDPAACGRIHYKDM1852
CACNA1BSFIFLCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEFIRVWAEYDPAACGRISYNDM1750
CACNA1CSFYMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWAEYDPEAKGRIKHLDV1517
CACNA1DSFYMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWSEYDPEAKGRIKHLDV1525
CACNA1ESFIFFCSFLMLNLFVAVIMDNFEYLTRDSS>I<-LGPHHLDEFVRVWAEYDRAACGRIHYTEM1764
CACNA1FSFFMLCAFLIINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKRIWSEYDPGAKGRIKHLDV1482
CACNA1GSFVLTAQFVLVNVVIAVLMKHLEESNKEAK>E<---EAELEAELELEMKT-LSPQPHSPLGSP1889
CACNA1HTFVLVAQFVLVNVVVAVLMKHLEESNKEAR>E<---DAELDAEIELEMAQGPGSARRVDADRP1899
CACNA1ISFVLTAQFVLINVVVAVLMKHLDDSNKEAQ>E<---DAEMDAELELEMAHGLGPGPRLPTGSP1769
CACNA1SSFYMLCAFLVINLFVAVIMDNFDYLTRDWS>I<-LGPHHLDEFKAIWAEYDPEAKGRIKHLDV1422
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1784Kc.5350G>A Inherited ArrhythmiaLQTS,BrSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7. 10961955
Inherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
Inherited ArrhythmiaLQTS Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. Pacing Clin Electrophysiol. 2003 26(8):1660-7. 12877697
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539
Inherited ArrhythmiaLQTS 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 ArrhythmiaBrS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaBrS Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465
Inherited ArrhythmiaBrS 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 ArrhythmiaLQTS Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res. 2000 46(1):55-65. 10727653
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants. J Physiol. 2015 593(18):4201-23. doi: 10.1113/JP270139. 26131924