No paralogue variants have been mapped to residue 260 for KCNH2.
KCNH2 | ----P--PRSA--PGQLPS--PRAHSLNPD>A<SGSS------CSL----ARTRSRESCASVR | 280 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<-----------RY----GRAR--------- | 159 |
KCNH4 | ------------------------------>-<-----------SL----GRRG--------- | 160 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | ----CSPLVNISGPLDHSSPKRQWDRLYPD>M<LQSS------SQL----SHSRSRESLCSIR | 271 |
KCNH8 | ------------------------------>-<-----------VK----GRSR--------- | 155 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | PPPSPA---KS------------------D>T<LIVPSSASGTHRKKLPSEDDEA-E------ | 523 |
CNGB3 | ------------------------------>-<--VP-------------------------- | 99 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A260V | c.779C>T | Putative Benign | SIFT: tolerated Polyphen: benign |