No paralogue variants have been mapped to residue 273 for KCNH2.
KCNH2 | AHSLNPDASGSS------CSL----ARTRS>R<ESCASVRRASSADDIEAM--------RAGV | 295 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | -------------------RY----GRAR->-<------------------------------ | 159 |
KCNH4 | -------------------SL----GRRG->-<------------------------------ | 160 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | WDRLYPDMLQSS------SQL----SHSRS>R<ESLCSIRRASSVHDIEGFGVHPKNIFRDRH | 294 |
KCNH8 | -------------------VK----GRSR->-<------------------------------ | 155 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------DTLIVPSSASGTHRKKLPSEDDEA>-<E---------ELKALSPAESPVVAWSDPTT | 543 |
CNGB3 | ----------VP------------------>-<----------EQKEMDPGKE------GPNS | 113 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R273Q | c.818G>A | Other Cardiac Phenotype | rs199472877 | SIFT: tolerated Polyphen: probably damaging | |
Reports | Other Cardiac Phenotype | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 |