No paralogue variants have been mapped to residue 147 for KCNH2.
KCNH2 | ----------------------------TN>H<RGPPTSWLAPGRAKTFRLKLPALLALTARE | 177 |
KCNH1 | ------------------------------>-<------------CKGWG------------- | 149 |
KCNH3 | ------------------------------>-<------------WKETGGGRR--------- | 153 |
KCNH4 | ------------------------------>-<------------GRGDSNHEN--------- | 154 |
KCNH5 | ------------------------------>-<------------TKGWT------------- | 147 |
KCNH6 | ------------------------------>-<-------LAKCSSRSLSQRLLSQSFLGSEG | 158 |
KCNH7 | -----------------------------N>-<---PILPIKTVNRKFFGFKFPGLRVLTYRK | 172 |
KCNH8 | ------------------------------>-<---------------DKKEDK--------- | 149 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | EDEEEEEEEEEEEEEEEVTEVLLDSCVVSQ>V<GVGQSEEDGTRPQSTSDQKLWEEVGEEAKK | 415 |
CNGB3 | PIGENNENEQS------------------->-<--SRRNEEGSHPSNQSQQ----TTAQEENK | 47 |
HCN1 | ------------------------------>-<------------PAGG---F---------- | 81 |
HCN2 | ------------------------------>-<------------EAGSEEAG---------- | 150 |
HCN3 | ------------------------------>-<-------------------G---------- | 41 |
HCN4 | ------------------------------>-<-------------AAGDQIL---------- | 201 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H147R | c.440A>G | Putative Benign | SIFT: Polyphen: |