No paralogue variants have been mapped to residue 199 for KCNH2.
KCNH2 | ALLALTARESSVRSGGAGGAGAPGAVVVDV>D<LTPAAPSSESLALDEVTAMDNHVAGLGPAE | 229 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | SQSFLGSEGSHGRPGGPG------------>-<---------------------------PG- | 169 |
KCNH7 | GLRVLTYRKQSLPQEDPD------VVVIDS>-<---SKHSDDSVAMKHFKSPTKESCSPSEAD | 214 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | EEVGEEAKKEAEEKAKEEAEEVAEEEAEKE>P<QDWAETKEEPEAEAEAASSGVPATKQHPEV | 467 |
CNGB3 | -TTAQEENKGEEKSLKTKSTPVTSEEPHTN>I<QDKLSKKN---------SSGDLTTNPDPQN | 90 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D199A | c.596A>C | Putative Benign | SIFT: Polyphen: |