No paralogue variants have been mapped to residue 253 for KCNH2.
KCNH2 | -----------P--PRSA--PGQLPS--PR>A<HSLNPDASGSS------CSL----ARTRSR | 273 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------RY----GRAR-- | 159 |
KCNH4 | ------------------------------>-<------------------SL----GRRG-- | 160 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | -----------CSPLVNISGPLDHSSPKRQ>W<DRLYPDMLQSS------SQL----SHSRSR | 264 |
KCNH8 | ------------------------------>-<------------------VK----GRSR-- | 155 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | NPPSTVLPPPSPA---KS------------>-<-----DTLIVPSSASGTHRKKLPSEDDEA- | 522 |
CNGB3 | ------------------------------>-<---------VP------------------- | 99 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala253Gly | c.758C>G | Unknown | SIFT: Polyphen: |