No paralogue variants have been mapped to residue 205 for KCNH2.
KCNH2 | ARESSVRSGGAGGAGAPGAVVVDVDLTPAA>P<SSESLALDEVTAMDNHVAGLGPAEERRALV | 235 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | SEGSHGRPGGPG------------------>-<---------------------PG------- | 169 |
KCNH7 | YRKQSLPQEDPD------VVVIDS----SK>H<SDDSVAMKHFKSPTKESCSPSEADDTKALI | 220 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | AKKEAEEKAKEEAEEVAEEEAEKEPQDWAE>T<KEEPEAEAEAASSGVPATKQHPEVQVEDTD | 473 |
CNGB3 | ENKGEEKSLKTKSTPVTSEEPHTNIQDKLS>K<KN---------SSGDLTTNPDPQNAAEPTG | 96 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P205T | c.613C>A | Putative Benign | SIFT: tolerated Polyphen: benign |