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: |