Paralogue Annotation for SCN5A residue 592

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 592
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 592

No paralogue variants have been mapped to residue 592 for SCN5A.



SCN5ASA---QGQPSPGTSA----P--GHALHGKK>N<STV------------DCNGVVSLLG-AGD-608
SCN1A----------SNLSQ----T--SRSSRMLA>V<FPAN----GKMHSTVDCNGVVSLVG-G-P-657
SCN2A----------SNVSQ----A--SRASRVLP>I<LPMN----GKMHSAVDCNGVVSLVG-G-P-660
SCN3A----------SNVSQ----A--SMSSRMVP>G<LPAN----GKMHSTVDCNGVVSLVG-G-P-660
SCN4A------------------------------>-<-PAH----GK-----DCNGSLDTSQ-G---515
SCN7A------------------------------>-<------------------------------
SCN8A-----SYSGYSGYSQ----G--SRSSRIFP>S<LRRS----VKRNSTVDCNGVVSLIG-G-P-655
SCN9A----------SNISQ----A--SRSP---P>M<LPVN----GKMHSAVDCNGVVSLVD-G-R-634
SCN10A----------PLPRSPLPQP--SNP----->-<D---------------------SRH-G-E-566
SCN11A------------------------------>-<---------------DCQKKPQLLE-Q---497
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GSPSEASG-RTV--GS----G--KVYPTVHT>S<PPPETLKEKALVEVAASSGPPTLTSL-NI-624
CACNA1HTA-AASL-R-LATGL----GTMN-YPTILP>S<GVGSGKGSTSPGPKGKWAGGPPGTGGHGPL649
CACNA1I------------------------------>-<---------------TLAS-----------548
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N592Kc.1776C>A Putative Benignrs199473130SIFT: tolerated
Polyphen: possibly damaging
ReportsPutative 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
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
p.N592Kc.1776C>G Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome. Sci Rep. 2014 4:3850. doi: 10.1038/srep03850. 24463578