No paralogue variants have been mapped to residue 149 for KCNH2.
| KCNH2 | --------------------------TNHR>G<PPTSWLAPGRAKTFRLKLPALLALTARESS | 179 |
| KCNH1 | ------------------------------>-<----------CKGWG--------------- | 149 |
| KCNH3 | ------------------------------>-<----------WKETGGGRR----------- | 153 |
| KCNH4 | ------------------------------>-<----------GRGDSNHEN----------- | 154 |
| KCNH5 | ------------------------------>-<----------TKGWT--------------- | 147 |
| KCNH6 | ------------------------------>-<-----LAKCSSRSLSQRLLSQSFLGSEGSH | 160 |
| KCNH7 | ---------------------------N-->-<-PILPIKTVNRKFFGFKFPGLRVLTYRKQS | 174 |
| KCNH8 | ------------------------------>-<-------------DKKEDK----------- | 149 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | EEEEEEEEEEEEEEEVTEVLLDSCVVSQVG>V<GQSEEDGTRPQSTSDQKLWEEVGEEAKKEA | 417 |
| CNGB3 | GENNENEQS--------------------->-<SRRNEEGSHPSNQSQQ----TTAQEENKGE | 49 |
| HCN1 | ------------------------------>-<----------PAGG---F------------ | 81 |
| HCN2 | ------------------------------>-<----------EAGSEEAG------------ | 150 |
| HCN3 | ------------------------------>-<-----------------G------------ | 41 |
| HCN4 | ------------------------------>-<-----------AAGDQIL------------ | 201 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G149A | c.446G>C | Inherited Arrhythmia | LQTS | rs199472865 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.G149V | c.446G>T | Putative Benign | SIFT: Polyphen: | ||