No paralogue variants have been mapped to residue 188 for KCNH2.
KCNH2 | GRAKTFRLKLPALLALTARESSVRSGGAGG>A<GAPGAVVVDVDLTPAAPSSESLALDEVTAM | 218 |
KCNH1 | --CKGWG----------------------->-<------------------------------ | 149 |
KCNH3 | --WKETGGGRR------------------->-<------------------------------ | 153 |
KCNH4 | --GRGDSNHEN------------------->-<------------------------------ | 154 |
KCNH5 | --TKGWT----------------------->-<------------------------------ | 147 |
KCNH6 | CSSRSLSQRLLSQSFLGSEGSHGRPGGPG->-<------------------------------ | 167 |
KCNH7 | VNRKFFGFKFPGLRVLTYRKQSLPQEDPD->-<----VVVIDS----SKHSDDSVAMKHFKSP | 203 |
KCNH8 | -----DKKEDK------------------->-<------------------------------ | 149 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | RPQSTSDQKLWEEVGEEAKKEAEEKAKEEA>E<EVAEEEAEKEPQDWAETKEEPEAEAEAASS | 456 |
CNGB3 | HPSNQSQQ----TTAQEENKGEEKSLKTKS>T<PVTSEEPHTNIQDKLSKKN---------SS | 79 |
HCN1 | --PAGG---F-------------------->-<------------------------------ | 81 |
HCN2 | --EAGSEEAG-------------------->-<------------------------------ | 150 |
HCN3 | ---------G-------------------->-<------------------------------ | 41 |
HCN4 | ---AAGDQIL-------------------->-<------------------------------ | 201 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala188Val | c.563C>T | Unknown | SIFT: Polyphen: |