No paralogue variants have been mapped to residue 144 for KCNH2.
KCNH2 | --------------------------SPAH>D<------------------------------ | 144 |
KCNH1 | --------------------------EDDS>-<------------------------------ | 144 |
KCNH3 | --------------------------GPDR>-<------------------------------ | 144 |
KCNH4 | --------------------------GPQG>-<------------------------------ | 145 |
KCNH5 | --------------------------EDDS>-<------------------------------ | 142 |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | --------------------------TPER>V<------------------------------ | 144 |
KCNH8 | --------------------------TPE->-<------------------------------ | 143 |
CNGA1 | --------------------------EPEE>-<------------------------------ | 104 |
CNGA2 | --------------------------RPDS>-<------------------------------ | 93 |
CNGA3 | --------------------------GPDS>-<------------------------------ | 97 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | HQDVSTSPQGTEVVPAYEEENKAVEKMPRE>L<SRIEEEKEDEEEEEEEEEEEEEEEVTEVLL | 377 |
CNGB3 | --------------------------MFKS>L<TKVNKVKPIGENNENEQS------------ | 23 |
HCN1 | --------------------------GGEE>-<------------------------------ | 76 |
HCN2 | --------------------------GPAE>-<------------------------------ | 142 |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | --------------------------EGGA>-<------------------------------ | 194 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D144V | c.431A>T | Putative Benign | rs146284716 | SIFT: deleterious Polyphen: benign |