No paralogue variants have been mapped to residue 245 for KCNH2.
KCNH2 | GPGS-----------------P--PRSA-->P<GQLPS--PRAHSLNPDASGSS------CSL | 267 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<----------------------------RY | 155 |
KCNH4 | ------------------------------>-<----------------------------SL | 156 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | QPSK-----------------CSPLVNISG>P<LDHSSPKRQWDRLYPDMLQSS------SQL | 258 |
KCNH8 | ------------------------------>-<----------------------------VK | 151 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ADSCPLMAEENPPSTVLPPPSPA---KS-->-<---------------DTLIVPSSASGTHRK | 513 |
CNGB3 | T----------------------------->-<-------------------VP--------- | 99 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P245H | c.734C>A | Unknown | SIFT: deleterious Polyphen: probably damaging |