Paralogue Annotation for KCNH2 residue 704

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 704
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 704

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNH6	A556S	Schizophrenia	High	9	24463507

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	HTQMLRVREFIRFHQIPNPLRQRLEEYFQH>A<WSYTNGIDMNAVLKGFPECLQADICLHLNR	734
KCNH1	HEMLNSVRDFLKLYQVPKGLSERVMDYIVS>T<WSMSRGIDTEKVLQICPKDMRADICVHLNR	573
KCNH3	HSRTRDLRDYIRIHRIPKPLKQRMLEYFQA>T<WAVNNGIDTTELLQSLPDELRADIAMHLHK	575
KCNH4	HSRMKDLKDFIRVHRLPRPLKQRMLEYFQT>T<WAVNSGIDANELLRDFPDELRADIAMHLNR	549
KCNH5	HEMLNNVRDFLKLYQVPKGLSERVMDYIVS>T<WSMSKGIDTEKVLSICPKDMRADICVHLNR	542
KCNH6	HTQMLRVKEFIRFHQIPNPLRQRLEEYFQH>A<WSYTNGIDMNAVLKGFPECLQADICLHLHR	586
KCNH7	HMQMLRVKEFIRFHQIPNPLRQRLEEYFQH>A<WTYTNGIDMNMVLKGFPECLQADICLHLNQ	737
KCNH8	HTRTKDLKDFIRVHHLPQQLKQRMLEYFQT>T<WSVNNGIDSNELLKDFPDELRSDITMHLNK	544
CNGA1	QARIDAIKQYMHFRNVSKDMEKRVIKWFDY>L<WTNKKTVDEKEVLKYLPDKLRAEIAINVHL	471
CNGA2	QAKIDAVKHYMQFRKVSKGMEAKVIRWFDY>L<WTNKKTVDEREILKNLPAKLRAEIAINVHL	446
CNGA3	QAKIDSIKQYMQFRKVTKDLETRVIRWFDY>L<WANKKTVDEKEVLKSLPDKLKAEIAINVHL	474
CNGA4	YPDHALVKKYMKLQHVNRKLERRVIDWYQH>L<QINKKMTNEVAILQHLPERLRAEVAVSVHL	340
CNGB1	RSCMDSTVKYMNFYKIPKSVQNRVKTWYEY>T<WHSQGMLDESELMVQLPDKMRLDLAIDVNY	954
CNGB3	RACMDDTIAYMNNYSIPKLVQKRVRTWYEY>T<WDSQRMLDESDLLKTLPTTVQLALAIDVNF	516
HCN1	QEKYKQVEQYMSFHKLPADMRQKIHDYYEH>R<YQG-KIFDEENILNELNDPLREEIVNFNCR	467
HCN2	QEKYKQVEQYMSFHKLPADFRQKIHDYYEH>R<YQG-KMFDEDSILGELNGPLREEIVNFNCR	536
HCN3	QEKYKQVEQYMSFHKLPADTRQRIHEYYEH>R<YQG-KMFDEESILGELSEPLREEIINFTCR	420
HCN4	QEKYKQVEQYMSFHKLPPDTRQRIHDYYEH>R<YQG-KMFDEESILGELSEPLREEIINFNCR	587
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A704T	c.2110G>A	Putative Benign			SIFT: Polyphen: