No paralogue variants have been mapped to residue 204 for KCNH2.
KCNH2 | TARESSVRSGGAGGAGAPGAVVVDVDLTPA>A<PSSESLALDEVTAMDNHVAGLGPAEERRAL | 234 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | GSEGSHGRPGGPG----------------->-<----------------------PG------ | 169 |
KCNH7 | TYRKQSLPQEDPD------VVVIDS----S>K<HSDDSVAMKHFKSPTKESCSPSEADDTKAL | 219 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | EAKKEAEEKAKEEAEEVAEEEAEKEPQDWA>E<TKEEPEAEAEAASSGVPATKQHPEVQVEDT | 472 |
CNGB3 | EENKGEEKSLKTKSTPVTSEEPHTNIQDKL>S<KKN---------SSGDLTTNPDPQNAAEPT | 95 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A204T | c.610G>A | Putative Benign | rs374816371 | SIFT: tolerated Polyphen: benign |