Paralogue Annotation for SCN5A residue 1032

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1032
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1032

No paralogue variants have been mapped to residue 1032 for SCN5A.

SCN5A	IATPYSPPP-PETEKVPPTRKETRFEEG-->E<QPGQG-------------------------	1037
SCN1A	MSNHT--------AEIGKDLDYLKDVNG-->T<TSGIG-------------------------	1087
SCN2A	ISNHT-------TIEIGKDLNYLKDGNG-->T<TSGI--------------------------	1078
SCN3A	MSNNT-------GIEISKELNYLRDGNG-->T<TSGVG-------------------------	1075
SCN4A	ETAPE-------DEKKEPPEEDLKKDNH-->I<LNHMG-------------------------	898
SCN7A	ISDHTL-------SELSNTQDFLKDKEK-->S<-S----------------------------	812
SCN8A	IANHT-------GADIHRNGDFQKNGNG-->T<TSGI--------------------------	1070
SCN9A	ISNHT-------LAEMSKGHNFLKEKD--->K<ISGF--------------------------	1051
SCN10A	IAANT--------------------ARG-->S<SGGLQ-------------------------	975
SCN11A	AAQ---------SKDIIPLVMEMKRGSE-->T<QEELG-------------------------	898
CACNA1A	YTR-HLRPDMKTHLDRPLVVDPQENRN-NN>T<NKSRAAEPTVDQRLGQQ-RAED--FLRKQA	863
CACNA1B	TTR-HLRPDMKTHLDRPLVVELGRDGA-RG>P<VGGKARPEAAEAPEGVD-PP------RRHH	853
CACNA1C	------------------------------>-<-----------------EKKQELVE---K-	793
CACNA1D	------------------------------>-<-----------------ENKKN--N---K-	810
CACNA1E	LNP-LSSL-------NPLNAHPSLYRR-PR>A<IEGLAL-----GLALEKFEEER--ISRGGS	855
CACNA1F	------------------------------>-<-----------------V------------	790
CACNA1G	TPM-SLPKSTSTGLGEALGPASRRTS-SSG>S<AEPGA-------------------------	1079
CACNA1H	TPM-PTPKS-SPFLDAAPSLPDSRRGSSSS>-<GDP-P-------------------------	1114
CACNA1I	GPA-P--RL-SLQPDPMLVALGSRKSSVMS>-<LGR-M-------------------------	960
CACNA1S	------------------------------>-<-----------------EEKST--M---A-	702
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1032D	c.3096G>T	Putative Benign		rs376815707	SIFT: tolerated Polyphen: benign
p.E1032K	c.3094G>A	Inherited Arrhythmia		rs369565476	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661