No paralogue variants have been mapped to residue 244 for KCNH2.
KCNH2 | ALVGPGS-----------------P--PRS>A<--PGQLPS--PRAHSLNPDASGSS------ | 264 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | ALIQPSK-----------------CSPLVN>I<SGPLDHSSPKRQWDRLYPDMLQSS------ | 255 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | DTDADSCPLMAEENPPSTVLPPPSPA---K>S<------------------DTLIVPSSASGT | 510 |
CNGB3 | PTGT-------------------------->-<----------------------VP------ | 99 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A244G | c.731C>G | Putative Benign | SIFT: tolerated Polyphen: benign |