Paralogue Annotation for KCNH2 residue 713

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 713
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 713

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
HCN2	E515K	Epilepsy, idiopathic generalised	Medium	9	22131395

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	FIRFHQIPNPLRQRLEEYFQHAWSYTNGID>M<NAVLKGFPECLQADICLHLNRSLLQHCKPF	743
KCNH1	FLKLYQVPKGLSERVMDYIVSTWSMSRGID>T<EKVLQICPKDMRADICVHLNRKVFKEHPAF	582
KCNH3	YIRIHRIPKPLKQRMLEYFQATWAVNNGID>T<TELLQSLPDELRADIAMHLHKEVL-QLPLF	583
KCNH4	FIRVHRLPRPLKQRMLEYFQTTWAVNSGID>A<NELLRDFPDELRADIAMHLNREIL-QLPLF	557
KCNH5	FLKLYQVPKGLSERVMDYIVSTWSMSKGID>T<EKVLSICPKDMRADICVHLNRKVFNEHPAF	551
KCNH6	FIRFHQIPNPLRQRLEEYFQHAWSYTNGID>M<NAVLKGFPECLQADICLHLHRALLQHCPAF	595
KCNH7	FIRFHQIPNPLRQRLEEYFQHAWTYTNGID>M<NMVLKGFPECLQADICLHLNQTLLQNCKAF	746
KCNH8	FIRVHHLPQQLKQRMLEYFQTTWSVNNGID>S<NELLKDFPDELRSDITMHLNKEIL-QLSLF	552
CNGA1	YMHFRNVSKDMEKRVIKWFDYLWTNKKTVD>E<KEVLKYLPDKLRAEIAINVHLDTLKKVRIF	480
CNGA2	YMQFRKVSKGMEAKVIRWFDYLWTNKKTVD>E<REILKNLPAKLRAEIAINVHLSTLKKVRIF	455
CNGA3	YMQFRKVTKDLETRVIRWFDYLWANKKTVD>E<KEVLKSLPDKLKAEIAINVHLDTLKKVRIF	483
CNGA4	YMKLQHVNRKLERRVIDWYQHLQINKKMTN>E<VAILQHLPERLRAEVAVSVHLSTLSRVQIF	349
CNGB1	YMNFYKIPKSVQNRVKTWYEYTWHSQGMLD>E<SELMVQLPDKMRLDLAIDVNYNIVSKVALF	963
CNGB3	YMNNYSIPKLVQKRVRTWYEYTWDSQRMLD>E<SDLLKTLPTTVQLALAIDVNFSIISKVDLF	525
HCN1	YMSFHKLPADMRQKIHDYYEHRYQG-KIFD>E<ENILNELNDPLREEIVNFNCRKLVATMPLF	476
HCN2	YMSFHKLPADFRQKIHDYYEHRYQG-KMFD>E<DSILGELNGPLREEIVNFNCRKLVASMPLF	545
HCN3	YMSFHKLPADTRQRIHEYYEHRYQG-KMFD>E<ESILGELSEPLREEIINFTCRGLVAHMPLF	429
HCN4	YMSFHKLPPDTRQRIHDYYEHRYQG-KMFD>E<ESILGELSEPLREEIINFNCRKLVASMPLF	596
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M713V	c.2137A>G	Putative Benign			SIFT: Polyphen: