Paralogue Annotation for SCN5A residue 1004

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1004
Reference Amino Acid: C - Cysteine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1004

No paralogue variants have been mapped to residue 1004 for SCN5A.



SCN5A---GLLRQ-RPQKPAALA-A----QGQLPS>C<IATPYSPPP-PETEKVPPTRKETRFEEG--1031
SCN1A---QSFIR-KQKILDEIK-PLDDLNNKKDS>C<MSNHT--------AEIGKDLDYLKDVNG--1081
SCN2A---KAFVR-KQKALDEIK-PLEDLNNKKDS>C<ISNHT-------TIEIGKDLNYLKDGNG--1073
SCN3A---KAFFR-KPKVI-EIH-E----GNKIDS>C<MSNNT-------GIEISKELNYLRDGNG--1069
SCN4A---GKILS-PKDIMLSLG-EADGAGEAGEA>G<ETAPE-------DEKKEPPEEDLKKDNH--892
SCN7A---NVP-------KDTMD-HVNEVYVKED->-<ISDHTL-------SELSNTQDFLKDKEK--810
SCN8A---AHFKQ-R--EADEVK-PLDELYEKKAN>C<IANHT-------GADIHRNGDFQKNGNG--1065
SCN9A---KAFSK-KPKISREIR-QAEDLNTKKEN>Y<ISNHT-------LAEMSKGHNFLKEKD---1046
SCN10A---RSCPFPQPKAEPELVVKLPLSSSKAEN>H<IAANT--------------------ARG--969
SCN11A---KWCRK-Q-NLPQQ--------KEVAGG>C<AAQ---------SKDIIPLVMEMKRGSE--892
CACNA1ANLLASREA-L-------Y-NEMDPDERWKA>A<YTR-HLRPDMKTHLDRPLVVDPQENRN-NN835
CACNA1BNLRASCEA-L-------Y-SEMDPEERLRF>A<TTR-HLRPDMKTHLDRPLVVELGRDGA-RG829
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1EMQMSSQEA-L-------N-REEAPTMNPLN>P<LNP-LSSL-------NPLNAHPSLYRR-PR831
CACNA1F------------------------------>-<------------------------------
CACNA1GSLGEHPEL-R-------K-SLLPPLIIHTA>A<TPM-SLPKSTSTGLGEALGPASRRTS-SSG1073
CACNA1HTPNGHLEG-R-------G-SLSPPLIMCTA>A<TPM-PTPKS-SPFLDAAPSLPDSRRGSSSS1110
CACNA1ITPNGHLDP-S-------L-PLGGHLGPAGA>A<GPA-P--RL-SLQPDPMLVALGSRKSSVMS956
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C1004Rc.3010T>C Inherited ArrhythmiaLQTSrs199473183SIFT: tolerated
Polyphen: possibly damaging
ReportsInherited 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
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510