Paralogue Annotation for KCNH2 residue 269

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 269
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 269

No paralogue variants have been mapped to residue 269 for KCNH2.



KCNH2--PRAHSLNPDASGSS------CSL----A>R<TRSRESCASVRRASSADDIEAM--------291
KCNH1------------------------------>-<------------------------------
KCNH3-----------------------RY----G>R<AR----------------------------159
KCNH4-----------------------SL----G>R<RG----------------------------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7PKRQWDRLYPDMLQSS------SQL----S>H<SRSRESLCSIRRASSVHDIEGFGVHPKNIF290
KCNH8-----------------------VK----G>R<SR----------------------------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1----------DTLIVPSSASGTHRKKLPSE>D<DEA-E---------ELKALSPAESPVVAWS539
CNGB3--------------VP-------------->-<--------------EQKEMDPGKE------109
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R269Wc.805C>T Inherited ArrhythmiaLQTSrs199473503SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041