Paralogue Annotation for KCNH2 residue 259

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 259
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 259

No paralogue variants have been mapped to residue 259 for KCNH2.



KCNH2-----P--PRSA--PGQLPS--PRAHSLNP>D<ASGSS------CSL----ARTRSRESCASV279
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------RY----GRAR--------159
KCNH4------------------------------>-<------------SL----GRRG--------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7-----CSPLVNISGPLDHSSPKRQWDRLYP>D<MLQSS------SQL----SHSRSRESLCSI270
KCNH8------------------------------>-<------------VK----GRSR--------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1LPPPSPA---KS------------------>D<TLIVPSSASGTHRKKLPSEDDEA-E-----523
CNGB3------------------------------>-<---VP-------------------------99
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D259Nc.775G>A Inherited ArrhythmiaLQTSrs199472876SIFT: deleterious
Polyphen: possibly damaging
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