| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNE2 | Q9E | Cardiac arrhythmia | Low | 2 | 10219239, 20981092 |
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 KCNE1.
| KCNE1 | --MILS---NTT>A<VTPFLTKLWQE---T------VQQGGN-MS | 28 |
| KCNE2 | MSTLSN---FTQ>T<LEDVFRRIFITYMDNW----RQNTTAEQEA | 36 |
| KCNE3 | METTNGTETWYE>S<LHAVLKALNATLHSNLLCRPGPGLGPD-NQ | 42 |
| KCNE4 | ------------>-<------MLKMEPLNST----HPGTAASSSP | 20 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A8V | c.23C>T | Inherited Arrhythmia | LQTS | rs199473348 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome. Heart Rhythm. 2007 4(3):332-40. 17341399 | ||
| 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 | Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. Physiol Rep. 2013 1(6):e00175. doi: 10.1002/phy2.175. 24400172 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.A8E | c.23C>A | Putative Benign | SIFT: Polyphen: | ||