No paralogue variants have been mapped to residue 172 for KCNH2.
KCNH2 | ---TNHRGPPTSWLAPGRAKTFRLKLPALL>A<LTARESSVRSGGAGGAGAPGAVVVDVDLTP | 202 |
KCNH1 | ------------------CKGWG------->-<------------------------------ | 149 |
KCNH3 | ------------------WKETGGGRR--->-<------------------------------ | 153 |
KCNH4 | ------------------GRGDSNHEN--->-<------------------------------ | 154 |
KCNH5 | ------------------TKGWT------->-<------------------------------ | 147 |
KCNH6 | -------------LAKCSSRSLSQRLLSQS>F<LGSEGSHGRPGGPG---------------- | 167 |
KCNH7 | ----N----PILPIKTVNRKFFGFKFPGLR>V<LTYRKQSLPQEDPD------VVVIDS---- | 187 |
KCNH8 | ---------------------DKKEDK--->-<------------------------------ | 149 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | CVVSQVGVGQSEEDGTRPQSTSDQKLWEEV>G<EEAKKEAEEKAKEEAEEVAEEEAEKEPQDW | 440 |
CNGB3 | --------SRRNEEGSHPSNQSQQ----TT>A<QEENKGEEKSLKTKSTPVTSEEPHTNIQDK | 72 |
HCN1 | ------------------PAGG---F---->-<------------------------------ | 81 |
HCN2 | ------------------EAGSEEAG---->-<------------------------------ | 150 |
HCN3 | -------------------------G---->-<------------------------------ | 41 |
HCN4 | -------------------AAGDQIL---->-<------------------------------ | 201 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A172V | c.515C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783 |