No paralogue variants have been mapped to residue 89 for KCNH2.
| KCNH2 | LL---------------------------G>A<EE-R-------KVE-IAFYRK--------- | 101 |
| KCNH1 | FE---------------------------N>Y<EM-N-------SFE-ILMYKK--------- | 102 |
| KCNH3 | LD---------------------------E>H<KE-F-------KAE-LILYRK--------- | 102 |
| KCNH4 | LE---------------------------G>H<QE-H-------RAE-ICFYRK--------- | 102 |
| KCNH5 | FD---------------------------N>Y<ES-N-------CFE-VLLYKK--------- | 100 |
| KCNH6 | LL---------------------------G>A<EE-C-------KVD-ILYYRK--------- | 101 |
| KCNH7 | LL---------------------------G>S<EE-R-------KVE-VTYYHK--------- | 101 |
| KCNH8 | LE---------------------------E>K<TE-F-------KGE-IMFYKK--------- | 102 |
| CNGA1 | FS---------------------------E>D<DD-SASTSEESENEN-PHA-R--------- | 63 |
| CNGA2 | HS---------------------------A>A<DDDTSSE---------LQR-L--------- | 53 |
| CNGA3 | HS---------------------------S>S<EE-TSSVLQPGIAME-TRG-L--------- | 57 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | LE---------------------------A>Q<DT-R-------PGLRLLLWLEQNLERVLPQ | 172 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | VFPAKASATGAGPAAAEKRLGTPPGGGGAG>A<KE-H-------GNS-VCFKVD--------- | 62 |
| HCN2 | GTPGAASTAKGSPNGECGRGEPQCSPAGPE>G<PA-R-------GPK-VSFSCR--------- | 128 |
| HCN3 | ------------------------------>-<----------------APPPA--------- | 30 |
| HCN4 | QQPPQPAS---------------------->-<-----------------ASCE--------- | 180 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A89V | c.266C>T | 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 | ||
| p.A89G | c.266C>G | Putative Benign | SIFT: Polyphen: | ||