No paralogue variants have been mapped to residue 175 for KCNH2.
KCNH2 | TNHRGPPTSWLAPGRAKTFRLKLPALLALT>A<RESSVRSGGAGGAGAPGAVVVDVDLTPAAP | 205 |
KCNH1 | ---------------CKGWG---------->-<------------------------------ | 149 |
KCNH3 | ---------------WKETGGGRR------>-<------------------------------ | 153 |
KCNH4 | ---------------GRGDSNHEN------>-<------------------------------ | 154 |
KCNH5 | ---------------TKGWT---------->-<------------------------------ | 147 |
KCNH6 | ----------LAKCSSRSLSQRLLSQSFLG>S<EGSHGRPGGPG------------------- | 167 |
KCNH7 | -N----PILPIKTVNRKFFGFKFPGLRVLT>Y<RKQSLPQEDPD------VVVIDS----SKH | 190 |
KCNH8 | ------------------DKKEDK------>-<------------------------------ | 149 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | SQVGVGQSEEDGTRPQSTSDQKLWEEVGEE>A<KKEAEEKAKEEAEEVAEEEAEKEPQDWAET | 443 |
CNGB3 | -----SRRNEEGSHPSNQSQQ----TTAQE>E<NKGEEKSLKTKSTPVTSEEPHTNIQDKLSK | 75 |
HCN1 | ---------------PAGG---F------->-<------------------------------ | 81 |
HCN2 | ---------------EAGSEEAG------->-<------------------------------ | 150 |
HCN3 | ----------------------G------->-<------------------------------ | 41 |
HCN4 | ----------------AAGDQIL------->-<------------------------------ | 201 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A175D | c.524C>A | Putative Benign | SIFT: Polyphen: |