Paralogue Annotation for KCNH2 residue 273

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 273
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 273

No paralogue variants have been mapped to residue 273 for KCNH2.



KCNH2AHSLNPDASGSS------CSL----ARTRS>R<ESCASVRRASSADDIEAM--------RAGV295
KCNH1------------------------------>-<------------------------------
KCNH3-------------------RY----GRAR->-<------------------------------159
KCNH4-------------------SL----GRRG->-<------------------------------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7WDRLYPDMLQSS------SQL----SHSRS>R<ESLCSIRRASSVHDIEGFGVHPKNIFRDRH294
KCNH8-------------------VK----GRSR->-<------------------------------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------DTLIVPSSASGTHRKKLPSEDDEA>-<E---------ELKALSPAESPVVAWSDPTT543
CNGB3----------VP------------------>-<----------EQKEMDPGKE------GPNS113
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R273Qc.818G>A Other Cardiac Phenotypers199472877SIFT: tolerated
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839