No paralogue variants have been mapped to residue 233 for KCNH2.
KCNH2 | AAPSSESLALDEVTAMDNHVAGLGPAEERR>A<LVGPGS-----------------P--PRSA | 244 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------PG---->-<------------------------------ | 169 |
KCNH7 | SKHSDDSVAMKHFKSPTKESCSPSEADDTK>A<LIQPSK-----------------CSPLVNI | 231 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | AETKEEPEAEAEAASSGVPATKQHPEVQVE>D<TDADSCPLMAEENPPSTVLPPPSPA---KS | 498 |
CNGB3 | LSKKN---------SSGDLTTNPDPQNAAE>P<TGT--------------------------- | 97 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A233S | c.697G>T | Putative Benign | SIFT: Polyphen: | ||
p.A233T | c.697G>A | Unknown | SIFT: tolerated Polyphen: benign |