No paralogue variants have been mapped to residue 96 for KCNH2.
| KCNH2 | -------------GAEE-R-------KVE->I<AFYRK-----------DGS----------- | 104 |
| KCNH1 | -------------NYEM-N-------SFE->I<LMYKK-----------NRT----------- | 105 |
| KCNH3 | -------------EHKE-F-------KAE->L<ILYRK-----------SGL----------- | 105 |
| KCNH4 | -------------GHQE-H-------RAE->I<CFYRK-----------DGS----------- | 105 |
| KCNH5 | -------------NYES-N-------CFE->V<LLYKK-----------NRT----------- | 103 |
| KCNH6 | -------------GAEE-C-------KVD->I<LYYRK-----------DAS----------- | 104 |
| KCNH7 | -------------GSEE-R-------KVE->V<TYYHK-----------NGS----------- | 104 |
| KCNH8 | -------------EKTE-F-------KGE->I<MFYKK-----------NGS----------- | 105 |
| CNGA1 | -------------EDDD-SASTSEESENEN>-<PHA-R-----------GSF----------- | 66 |
| CNGA2 | -------------AADDDTSSE-------->-<LQR-L-----------ADV----------- | 56 |
| CNGA3 | -------------SSEE-TSSVLQPGIAME>-<TRG-L-----------ADS----------- | 60 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | -------------AQDT-R-------PGLR>L<LLWLEQNLERVLPQPPKSSEVWRDEPAVAT | 188 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | EKRLGTPPGGGGAGAKE-H-------GNS->V<CFKVD------------------------- | 62 |
| HCN2 | CGRGEPQCSPAGPEGPA-R-------GPK->V<SFSCR------------------------- | 128 |
| HCN3 | ------------------------------>-<APPPA------------------------- | 30 |
| HCN4 | ------------------------------>-<-ASCE------------------------- | 180 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I96T | c.287T>C | Inherited Arrhythmia | LQTS | rs199472853 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227 | ||
| Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
| Inherited Arrhythmia | LQTS | Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology. Med Biol Eng Comput. 2006 44(7):543-9. 16937190 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.I96V | c.286A>G | Inherited Arrhythmia | LQTS | rs199473496 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||