No paralogue variants have been mapped to residue 1132 for KCNH2.
| KCNH2 | --------------------EG-------->P<TRRLSLPGQL---GALTSQP-LHRHGSDPG | 1158 |
| KCNH1 | ------------------------------>-<------SQSP---QELFEISRPQSPESERD | 984 |
| KCNH3 | TSDSEPPASGDLCSEPSTPAS-------PP>P<SEEGAR-TGP---AEPVSQAEATSTGEPPP | 1046 |
| KCNH4 | ILPPYPSEPDPLG---------------PS>P<VPEASPPTPS---LLRHSFQSRSDTF---- | 1016 |
| KCNH5 | ---------------ASSPKSQM------P>L<QVP--PQIPC---QDIFSVSRPESPESDKD | 984 |
| KCNH6 | ------------------------------>P<-CFSSLPEHL---GSVPKQLDFQRHGSDPG | 987 |
| KCNH7 | -LKQDSDLSLELHLRQRKTYVH-------->P<IRHPSLPDSS---LSTVGIVGLHRHVSDPG | 1192 |
| KCNH8 | TLTPLQSISATLSSSVCSSSETSLHLVLPS>R<SEEGSFSQGT---VSSFSLENLPGSWNQEG | 1076 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ------------------------------>-<----MSPGPEPGEQILSVKMPEEREE-KAE | 1251 |
| CNGB3 | ------------------------------>-<----MAPSAEGGEEVLTIEVKEKAKQ---- | 809 |
| HCN1 | -----------------PP----------->-<--AAALPRES---SSVLNTD-P-DAEKP-R | 885 |
| HCN2 | -----------------RR----------->-<--DSASPGAA---GG---LD-PQDSARS-R | 884 |
| HCN3 | -----------------VP----------->-<--EPATP------------------RGL-Q | 769 |
| HCN4 | ------------------P----------->-<--LTAGPQRE---PG---AR-P-EPVRS-K | 1198 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1132A | c.3394C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||