Paralogue Annotation for KCNH2 residue 254

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 254
Reference Amino Acid: H - Histidine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 254

No paralogue variants have been mapped to residue 254 for KCNH2.



KCNH2----------P--PRSA--PGQLPS--PRA>H<SLNPDASGSS------CSL----ARTRSRE274
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<-----------------RY----GRAR---159
KCNH4------------------------------>-<-----------------SL----GRRG---160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7----------CSPLVNISGPLDHSSPKRQW>D<RLYPDMLQSS------SQL----SHSRSRE265
KCNH8------------------------------>-<-----------------VK----GRSR---155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1PPSTVLPPPSPA---KS------------->-<----DTLIVPSSASGTHRKKLPSEDDEA-E523
CNGB3------------------------------>-<--------VP--------------------99
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H254Qc.762C>G Putative Benignrs199473502SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300