No paralogue variants have been mapped to residue 142 for KCNH2.
KCNH2 | ----------------------------SP>A<HD---------------------------- | 144 |
KCNH1 | ----------------------------ED>D<S----------------------------- | 144 |
KCNH3 | ----------------------------GP>D<R----------------------------- | 144 |
KCNH4 | ----------------------------GP>Q<G----------------------------- | 145 |
KCNH5 | ----------------------------ED>D<S----------------------------- | 142 |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | ----------------------------TP>E<RV---------------------------- | 144 |
KCNH8 | ----------------------------TP>E<------------------------------ | 143 |
CNGA1 | ----------------------------EP>E<E----------------------------- | 104 |
CNGA2 | ----------------------------RP>D<S----------------------------- | 93 |
CNGA3 | ----------------------------GP>D<S----------------------------- | 97 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | DAHQDVSTSPQGTEVVPAYEEENKAVEKMP>R<ELSRIEEEKEDEEEEEEEEEEEEEEEVTEV | 375 |
CNGB3 | ----------------------------MF>K<SLTKVNKVKPIGENNENEQS---------- | 23 |
HCN1 | ----------------------------GG>E<E----------------------------- | 76 |
HCN2 | ----------------------------GP>A<E----------------------------- | 142 |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ----------------------------EG>G<A----------------------------- | 194 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A142T | c.424G>A | Putative Benign | SIFT: Polyphen: |