No paralogue variants have been mapped to residue 203 for KCNH2.
KCNH2 | LTARESSVRSGGAGGAGAPGAVVVDVDLTP>A<APSSESLALDEVTAMDNHVAGLGPAEERRA | 233 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | LGSEGSHGRPGGPG---------------->-<-----------------------PG----- | 169 |
KCNH7 | LTYRKQSLPQEDPD------VVVIDS---->S<KHSDDSVAMKHFKSPTKESCSPSEADDTKA | 218 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | EEAKKEAEEKAKEEAEEVAEEEAEKEPQDW>A<ETKEEPEAEAEAASSGVPATKQHPEVQVED | 471 |
CNGB3 | QEENKGEEKSLKTKSTPVTSEEPHTNIQDK>L<SKKN---------SSGDLTTNPDPQNAAEP | 94 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A203T | c.607G>A | Putative Benign | rs199472868 | SIFT: tolerated Polyphen: benign | |
Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 |