Paralogue Annotation for KCNH2 residue 257

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 257
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 257

No paralogue variants have been mapped to residue 257 for KCNH2.



KCNH2-------P--PRSA--PGQLPS--PRAHSL>N<PDASGSS------CSL----ARTRSRESCA277
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<--------------RY----GRAR------159
KCNH4------------------------------>-<--------------SL----GRRG------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7-------CSPLVNISGPLDHSSPKRQWDRL>Y<PDMLQSS------SQL----SHSRSRESLC268
KCNH8------------------------------>-<--------------VK----GRSR------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1TVLPPPSPA---KS---------------->-<-DTLIVPSSASGTHRKKLPSEDDEA-E---523
CNGB3------------------------------>-<-----VP-----------------------99
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N257Hc.769A>C Putative Benignrs199472875SIFT: tolerated
Polyphen: possibly damaging
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