No paralogue variants have been mapped to residue 280 for KCNH2.
| KCNH2 | ASGSS------CSL----ARTRSRESCASV>R<RASSADDIEAM--------RAGVLPPPPRH | 302 |
| KCNH1 | ------------------------------>-<------------------------------ | |
| KCNH3 | ------------RY----GRAR-------->-<------------------------------ | 159 |
| KCNH4 | ------------SL----GRRG-------->-<------------------------------ | 160 |
| KCNH5 | ------------------------------>-<------------------------------ | |
| KCNH6 | ------------------------------>-<------------------------------ | |
| KCNH7 | MLQSS------SQL----SHSRSRESLCSI>R<RASSVHDIEGFGVHPKNIFRDRHASEDNGR | 301 |
| KCNH8 | ------------VK----GRSR-------->-<------------------------------ | 155 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | TLIVPSSASGTHRKKLPSEDDEA-E----->-<---ELKALSPAESPVVAWSDPTTPKDTDGQ | 550 |
| CNGB3 | ---VP------------------------->-<---EQKEMDPGKE------GPNSPQNK--- | 117 |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R280C | c.838C>T | Putative Benign | SIFT: Polyphen: |