No paralogue variants have been mapped to residue 200 for KCNH2.
KCNH2 | LLALTARESSVRSGGAGGAGAPGAVVVDVD>L<TPAAPSSESLALDEVTAMDNHVAGLGPAEE | 230 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | QSFLGSEGSHGRPGGPG------------->-<--------------------------PG-- | 169 |
KCNH7 | LRVLTYRKQSLPQEDPD------VVVIDS->-<--SKHSDDSVAMKHFKSPTKESCSPSEADD | 215 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | EVGEEAKKEAEEKAKEEAEEVAEEEAEKEP>Q<DWAETKEEPEAEAEAASSGVPATKQHPEVQ | 468 |
CNGB3 | TTAQEENKGEEKSLKTKSTPVTSEEPHTNI>Q<DKLSKKN---------SSGDLTTNPDPQNA | 91 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L200Q | c.599T>A | Putative Benign | SIFT: Polyphen: |