Paralogue Annotation for KCNH2 residue 279

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 279
Reference Amino Acid: V - Valine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 279

No paralogue variants have been mapped to residue 279 for KCNH2.



KCNH2DASGSS------CSL----ARTRSRESCAS>V<RRASSADDIEAM--------RAGVLPPPPR301
KCNH1------------------------------>-<------------------------------
KCNH3-------------RY----GRAR------->-<------------------------------159
KCNH4-------------SL----GRRG------->-<------------------------------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7DMLQSS------SQL----SHSRSRESLCS>I<RRASSVHDIEGFGVHPKNIFRDRHASEDNG300
KCNH8-------------VK----GRSR------->-<------------------------------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1DTLIVPSSASGTHRKKLPSEDDEA-E---->-<----ELKALSPAESPVVAWSDPTTPKDTDG549
CNGB3----VP------------------------>-<----EQKEMDPGKE------GPNSPQNK--117
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V279Mc.835G>A Other Cardiac Phenotypers199472879SIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839