No paralogue variants have been mapped to residue 100 for KCNH2.
| KCNH2 | ---------GAEE-R-------KVE-IAFY>R<K-----------DGS--------------- | 104 |
| KCNH1 | ---------NYEM-N-------SFE-ILMY>K<K-----------NRT--------------- | 105 |
| KCNH3 | ---------EHKE-F-------KAE-LILY>R<K-----------SGL--------------- | 105 |
| KCNH4 | ---------GHQE-H-------RAE-ICFY>R<K-----------DGS--------------- | 105 |
| KCNH5 | ---------NYES-N-------CFE-VLLY>K<K-----------NRT--------------- | 103 |
| KCNH6 | ---------GAEE-C-------KVD-ILYY>R<K-----------DAS--------------- | 104 |
| KCNH7 | ---------GSEE-R-------KVE-VTYY>H<K-----------NGS--------------- | 104 |
| KCNH8 | ---------EKTE-F-------KGE-IMFY>K<K-----------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-------PGLRLLLW>L<EQNLERVLPQPPKSSEVWRDEPAVATGAAS | 192 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | GTPPGGGGAGAKE-H-------GNS-VCFK>V<D----------------------------- | 62 |
| HCN2 | EPQCSPAGPEGPA-R-------GPK-VSFS>C<R----------------------------- | 128 |
| HCN3 | ---------------------------APP>P<A----------------------------- | 30 |
| HCN4 | ----------------------------AS>C<E----------------------------- | 180 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R100G | c.298C>G | Inherited Arrhythmia | LQTS | rs121912515 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | ||
| 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.R100Q | c.299G>A | Inherited Arrhythmia | LQTS | rs199472855 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | |||
| 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.R100W | c.298C>T | Inherited Arrhythmia | LQTS | rs121912515 | SIFT: deleterious Polyphen: probably damaging |
| 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 | ||
| 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 | |||