Paralogue Annotation for KCNH2 residue 277

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 277
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 277

No paralogue variants have been mapped to residue 277 for KCNH2.



KCNH2NPDASGSS------CSL----ARTRSRESC>A<SVRRASSADDIEAM--------RAGVLPPP299
KCNH1------------------------------>-<------------------------------
KCNH3---------------RY----GRAR----->-<------------------------------159
KCNH4---------------SL----GRRG----->-<------------------------------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7YPDMLQSS------SQL----SHSRSRESL>C<SIRRASSVHDIEGFGVHPKNIFRDRHASED298
KCNH8---------------VK----GRSR----->-<------------------------------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1--DTLIVPSSASGTHRKKLPSEDDEA-E-->-<------ELKALSPAESPVVAWSDPTTPKDT547
CNGB3------VP---------------------->-<------EQKEMDPGKE------GPNSPQNK117
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A277Dc.830C>A Inherited ArrhythmiaLQTSrs199472878SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085