Paralogue Annotation for KCNH2 residue 1038

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1038
Reference Amino Acid: V - Valine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 1038

No paralogue variants have been mapped to residue 1038 for KCNH2.

KCNH2	RCPAPTP-SLLN----IPL-SSPGRRPRGD>V<-ESRLDALQRQLNRLETRLSADMATVLQ--	1065
KCNH1	WNKVSKA-ESME----TLP-E------RTK>A<-S-----GEATLKKTDSCDSGITKSDLR--	890
KCNH3	GQSGPE--CSSSPSPGPES-G----LLTVP>H<-GPSEARNTDTLDKLRQAVTELSEQVLQ--	894
KCNH4	RPELPRP-RSQA----PPT-GTRP-SPELA>S<-EAEEVK--EKVCRLNQEISRLNQEVSQ--	896
KCNH5	WNNVTKA-ESMG----LLS-EDPKSSDSEN>S<-V-----TKNPLRKTDSCDSGITKSDLR--	874
KCNH6	LEAPASN-DLAL----VPI-ASETTSPGPR>L<-P------QGFLPPAQTPSYGDLDDCSP--	909
KCNH7	WGISET----------------ESDLTYGE>V<-EQRLDLLQEQLNRLESQMTTDIQTILQ--	1058
KCNH8	ERIRSEP-RISP-----PLGDPEIGAAVLF>I<-KAEETK--QQINKLNSEVTTLTQEVSQ--	883
CNGA1	----T------------------------->-<------------------------------	690
CNGA2	----P------------------------->-<------------------------------	664
CNGA3	----Q------------------------->-<------------------------------	694
CNGA4	PPGPE------------------------->-<------------------------------	575
CNGB1	P---------G------SP-PSSPPPAS-->-<------------------------------	1204
CNGB3	PLDRPECTA-S------PI-AVEEEPHS-->-<------------------------------	769
HCN1	PQTQPQQPS-PQPQTPG---S--STPKNEV>H<-KSTQALHNTNLTREVRPLSASQPSLPHEV	797
HCN2	PR-----TS--------------PYGGLPA>A<PLAGPALPARRLSRASRPLSASQPSLPHGA	831
HCN3	RAGRSQ-VSLLG--PP---------P---->-<-----GGGGRRLGPRGRPLSASQPSLPQRA	723
HCN4	RASGSH-GSLLL--PPASS-P--PPPQVPQ>R<-RGTPPLTPGRLTQDLKLISASQPALPQDG	1097
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See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1038M	c.3112G>A	Inherited Arrhythmia	LQTS	rs199473544	SIFT: tolerated Polyphen: probably damaging
Reports		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
p.V1038L	c.3112G>T	Putative Benign			SIFT: Polyphen: