| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| HCN2 | S126L | Febrile seizures | Medium | 4 | 24324597 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.
| KCNH2 | ----------GAEE-R-------KVE-IAF>Y<RK-----------DGS-------------- | 104 |
| KCNH1 | ----------NYEM-N-------SFE-ILM>Y<KK-----------NRT-------------- | 105 |
| KCNH3 | ----------EHKE-F-------KAE-LIL>Y<RK-----------SGL-------------- | 105 |
| KCNH4 | ----------GHQE-H-------RAE-ICF>Y<RK-----------DGS-------------- | 105 |
| KCNH5 | ----------NYES-N-------CFE-VLL>Y<KK-----------NRT-------------- | 103 |
| KCNH6 | ----------GAEE-C-------KVD-ILY>Y<RK-----------DAS-------------- | 104 |
| KCNH7 | ----------GSEE-R-------KVE-VTY>Y<HK-----------NGS-------------- | 104 |
| KCNH8 | ----------EKTE-F-------KGE-IMF>Y<KK-----------NGS-------------- | 105 |
| CNGA1 | ----------EDDD-SASTSEESENEN-PH>A<-R-----------GSF-------------- | 66 |
| CNGA2 | ----------AADDDTSSE---------LQ>R<-L-----------ADV-------------- | 56 |
| CNGA3 | ----------SSEE-TSSVLQPGIAME-TR>G<-L-----------ADS-------------- | 60 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ----------AQDT-R-------PGLRLLL>W<LEQNLERVLPQPPKSSEVWRDEPAVATGAA | 191 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | LGTPPGGGGAGAKE-H-------GNS-VCF>K<VD---------------------------- | 62 |
| HCN2 | GEPQCSPAGPEGPA-R-------GPK-VSF>S<CR---------------------------- | 128 |
| HCN3 | ----------------------------AP>P<PA---------------------------- | 30 |
| HCN4 | -----------------------------A>S<CE---------------------------- | 180 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y99S | c.296A>C | Inherited Arrhythmia | LQTS | rs199472854 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | ||
| 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 | Mortality of inherited arrhythmia syndromes: insight into their natural history. Circ Cardiovasc Genet. 2012 5(2):183-9. 22373669 | |||
| 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 | |||
| 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.Tyr99Cys | c.296A>G | Unknown | SIFT: Polyphen: | ||