No paralogue variants have been mapped to residue 187 for KCNH2.
KCNH2 | PGRAKTFRLKLPALLALTARESSVRSGGAG>G<AGAPGAVVVDVDLTPAAPSSESLALDEVTA | 217 |
KCNH1 | ---CKGWG---------------------->-<------------------------------ | 149 |
KCNH3 | ---WKETGGGRR------------------>-<------------------------------ | 153 |
KCNH4 | ---GRGDSNHEN------------------>-<------------------------------ | 154 |
KCNH5 | ---TKGWT---------------------->-<------------------------------ | 147 |
KCNH6 | KCSSRSLSQRLLSQSFLGSEGSHGRPGGPG>-<------------------------------ | 167 |
KCNH7 | TVNRKFFGFKFPGLRVLTYRKQSLPQEDPD>-<-----VVVIDS----SKHSDDSVAMKHFKS | 202 |
KCNH8 | ------DKKEDK------------------>-<------------------------------ | 149 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | TRPQSTSDQKLWEEVGEEAKKEAEEKAKEE>A<EEVAEEEAEKEPQDWAETKEEPEAEAEAAS | 455 |
CNGB3 | SHPSNQSQQ----TTAQEENKGEEKSLKTK>S<TPVTSEEPHTNIQDKLSKKN---------S | 78 |
HCN1 | ---PAGG---F------------------->-<------------------------------ | 81 |
HCN2 | ---EAGSEEAG------------------->-<------------------------------ | 150 |
HCN3 | ----------G------------------->-<------------------------------ | 41 |
HCN4 | ----AAGDQIL------------------->-<------------------------------ | 201 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G187S | c.559G>A | Putative Benign | rs199472867 | 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 |