No paralogue variants have been mapped to residue 152 for KCNH2.
| KCNH2 | -----------------------TNHRGPP>T<SWLAPGRAKTFRLKLPALLALTARESSVRS | 182 |
| KCNH1 | ------------------------------>-<-------CKGWG------------------ | 149 |
| KCNH3 | ------------------------------>-<-------WKETGGGRR-------------- | 153 |
| KCNH4 | ------------------------------>-<-------GRGDSNHEN-------------- | 154 |
| KCNH5 | ------------------------------>-<-------TKGWT------------------ | 147 |
| KCNH6 | ------------------------------>-<--LAKCSSRSLSQRLLSQSFLGSEGSHGRP | 163 |
| KCNH7 | ------------------------N----P>I<LPIKTVNRKFFGFKFPGLRVLTYRKQSLPQ | 177 |
| KCNH8 | ------------------------------>-<----------DKKEDK-------------- | 149 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | EEEEEEEEEEEEVTEVLLDSCVVSQVGVGQ>S<EEDGTRPQSTSDQKLWEEVGEEAKKEAEEK | 420 |
| CNGB3 | NENEQS----------------------SR>R<NEEGSHPSNQSQQ----TTAQEENKGEEKS | 52 |
| HCN1 | ------------------------------>-<-------PAGG---F--------------- | 81 |
| HCN2 | ------------------------------>-<-------EAGSEEAG--------------- | 150 |
| HCN3 | ------------------------------>-<--------------G--------------- | 41 |
| HCN4 | ------------------------------>-<--------AAGDQIL--------------- | 201 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T152I | c.455C>T | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | BrS | Gain-of-Function KCNH2 Mutations in Patients with Brugada Syndrome. J Cardiovasc Electrophysiol. 2014 25(5):522-30. doi: 10.1111/jce.12361. 24400717 | ||
| p.Thr152Ser | c.455C>G | Unknown | SIFT: Polyphen: | ||