Paralogue Annotation for KCNH2 residue 699

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 699
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 699

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
HCN4	D553N	Sinus node disease	Medium	9	15123648, 23075627, 24569893
CNGA3	R439W	Achromatopsia	Medium	9	18521937, 26992781

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	GTARYHTQMLRVREFIRFHQIPNPLRQRLE>E<YFQHAWSYTNGIDMNAVLKGFPECLQADIC	729
KCNH1	NTNRYHEMLNSVRDFLKLYQVPKGLSERVM>D<YIVSTWSMSRGIDTEKVLQICPKDMRADIC	568
KCNH3	RRFLYHSRTRDLRDYIRIHRIPKPLKQRML>E<YFQATWAVNNGIDTTELLQSLPDELRADIA	570
KCNH4	RRSLYHSRMKDLKDFIRVHRLPRPLKQRML>E<YFQTTWAVNSGIDANELLRDFPDELRADIA	544
KCNH5	NTNRYHEMLNNVRDFLKLYQVPKGLSERVM>D<YIVSTWSMSKGIDTEKVLSICPKDMRADIC	537
KCNH6	GTARYHTQMLRVKEFIRFHQIPNPLRQRLE>E<YFQHAWSYTNGIDMNAVLKGFPECLQADIC	581
KCNH7	GTARYHMQMLRVKEFIRFHQIPNPLRQRLE>E<YFQHAWTYTNGIDMNMVLKGFPECLQADIC	732
KCNH8	RWSLYHTRTKDLKDFIRVHHLPQQLKQRML>E<YFQTTWSVNNGIDSNELLKDFPDELRSDIT	539
CNGA1	ARAEFQARIDAIKQYMHFRNVSKDMEKRVI>K<WFDYLWTNKKTVDEKEVLKYLPDKLRAEIA	466
CNGA2	TRAEFQAKIDAVKHYMQFRKVSKGMEAKVI>R<WFDYLWTNKKTVDEREILKNLPAKLRAEIA	441
CNGA3	SRAEFQAKIDSIKQYMQFRKVTKDLETRVI>R<WFDYLWANKKTVDEKEVLKSLPDKLKAEIA	469
CNGA4	ADAAFYPDHALVKKYMKLQHVNRKLERRVI>D<WYQHLQINKKMTNEVAILQHLPERLRAEVA	335
CNGB1	GQTYYRSCMDSTVKYMNFYKIPKSVQNRVK>T<WYEYTWHSQGMLDESELMVQLPDKMRLDLA	949
CNGB3	NQNYFRACMDDTIAYMNNYSIPKLVQKRVR>T<WYEYTWDSQRMLDESDLLKTLPTTVQLALA	511
HCN1	SRRQYQEKYKQVEQYMSFHKLPADMRQKIH>D<YYEHRYQG-KIFDEENILNELNDPLREEIV	462
HCN2	SRRQYQEKYKQVEQYMSFHKLPADFRQKIH>D<YYEHRYQG-KMFDEDSILGELNGPLREEIV	531
HCN3	SRRQYQEKYKQVEQYMSFHKLPADTRQRIH>E<YYEHRYQG-KMFDEESILGELSEPLREEII	415
HCN4	SRRQYQEKYKQVEQYMSFHKLPPDTRQRIH>D<YYEHRYQG-KMFDEESILGELSEPLREEII	582
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E699D	c.2097G>C	Putative Benign			SIFT: tolerated Polyphen: probably damaging