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 |