No paralogue variants have been mapped to residue 198 for KCNH2.
KCNH2 | PALLALTARESSVRSGGAGGAGAPGAVVVD>V<DLTPAAPSSESLALDEVTAMDNHVAGLGPA | 228 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | R----------------------------->-<------------------------------ | 153 |
KCNH4 | N----------------------------->-<------------------------------ | 154 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | LSQSFLGSEGSHGRPGGPG----------->-<----------------------------PG | 169 |
KCNH7 | PGLRVLTYRKQSLPQEDPD------VVVID>S<----SKHSDDSVAMKHFKSPTKESCSPSEA | 213 |
KCNH8 | K----------------------------->-<------------------------------ | 149 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | WEEVGEEAKKEAEEKAKEEAEEVAEEEAEK>E<PQDWAETKEEPEAEAEAASSGVPATKQHPE | 466 |
CNGB3 | --TTAQEENKGEEKSLKTKSTPVTSEEPHT>N<IQDKLSKKN---------SSGDLTTNPDPQ | 89 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V198L | c.592G>C | Putative Benign | SIFT: Polyphen: |