Paralogue Annotation for KCNH2 residue 731

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 731
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 731

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	N471S	Colour-blindness, total	Medium	9	11536077, 15743887

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.

KCNH2	FQHAWSYTNGIDMNAVLKGFPECLQADICL>H<LNRSLLQHCKPFRGATKGCLRALAMKFKTT	761
KCNH1	IVSTWSMSRGIDTEKVLQICPKDMRADICV>H<LNRKVFKEHPAFRLASDGCLRALAMEFQTV	600
KCNH3	FQATWAVNNGIDTTELLQSLPDELRADIAM>H<LHKEVL-QLPLFEAASRGCLRALSLALRPA	601
KCNH4	FQTTWAVNSGIDANELLRDFPDELRADIAM>H<LNREIL-QLPLFGAASRGCLRALSLHIKTS	575
KCNH5	IVSTWSMSKGIDTEKVLSICPKDMRADICV>H<LNRKVFNEHPAFRLASDGCLRALAVEFQTI	569
KCNH6	FQHAWSYTNGIDMNAVLKGFPECLQADICL>H<LHRALLQHCPAFSGAGKGCLRALAVKFKTT	613
KCNH7	FQHAWTYTNGIDMNMVLKGFPECLQADICL>H<LNQTLLQNCKAFRGASKGCLRALAMKFKTT	764
KCNH8	FQTTWSVNNGIDSNELLKDFPDELRSDITM>H<LNKEIL-QLSLFECASRGCLRSLSLHIKTS	570
CNGA1	FDYLWTNKKTVDEKEVLKYLPDKLRAEIAI>N<VHLDTLKKVRIFADCEAGLLVELVLKLQPQ	498
CNGA2	FDYLWTNKKTVDEREILKNLPAKLRAEIAI>N<VHLSTLKKVRIFHDCEAGLLVELVLKLRPQ	473
CNGA3	FDYLWANKKTVDEKEVLKSLPDKLKAEIAI>N<VHLDTLKKVRIFQDCEAGLLVELVLKLRPT	501
CNGA4	YQHLQINKKMTNEVAILQHLPERLRAEVAV>S<VHLSTLSRVQIFQNCEASLLEELVLKLQPQ	367
CNGB1	YEYTWHSQGMLDESELMVQLPDKMRLDLAI>D<VNYNIVSKVALFQGCDRQMIFDMLKRLRSV	981
CNGB3	YEYTWDSQRMLDESDLLKTLPTTVQLALAI>D<VNFSIISKVDLFKGCDTQMIYDMLLRLKSV	543
HCN1	YEHRYQG-KIFDEENILNELNDPLREEIVN>F<NCRKLVATMPLFANADPNFVTAMLSKLRFE	494
HCN2	YEHRYQG-KMFDEDSILGELNGPLREEIVN>F<NCRKLVASMPLFANADPNFVTAMLTKLKFE	563
HCN3	YEHRYQG-KMFDEESILGELSEPLREEIIN>F<TCRGLVAHMPLFAHADPSFVTAVLTKLRFE	447
HCN4	YEHRYQG-KMFDEESILGELSEPLREEIIN>F<NCRKLVASMPLFANADPNFVTSMLTKLRFE	614
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H731P	c.2192A>C	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
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
p.His731Pro	c.2192A>C	Unknown			SIFT: Polyphen: