No paralogue variants have been mapped to residue 272 for KCNH2.
KCNH2 | RAHSLNPDASGSS------CSL----ARTR>S<RESCASVRRASSADDIEAM--------RAG | 294 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | --------------------RY----GRAR>-<------------------------------ | 159 |
KCNH4 | --------------------SL----GRRG>-<------------------------------ | 160 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | QWDRLYPDMLQSS------SQL----SHSR>S<RESLCSIRRASSVHDIEGFGVHPKNIFRDR | 293 |
KCNH8 | --------------------VK----GRSR>-<------------------------------ | 155 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | -------DTLIVPSSASGTHRKKLPSEDDE>A<-E---------ELKALSPAESPVVAWSDPT | 542 |
CNGB3 | -----------VP----------------->-<-----------EQKEMDPGKE------GPN | 112 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S272T | c.814T>A | Putative Benign | rs13229961 | SIFT: deleterious Polyphen: probably damaging |