| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNE3 | M65T | Arrhythmia | Medium | 9 | 24082139 |
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 KCNE2.
| KCNE2 | TTAEQEALQA-KVDAENFY--YVILYLMVM>I<GMFSFIIVAILVSTVKSKRREHSNDPYHQY | 87 |
| KCNE1 | QGGN-MSGLA-RRSPRSSDGKLEALYVLMV>L<GFFGFFTLGIMLSYIRSKKLEHSNDPFNVY | 81 |
| KCNE3 | LGPD-NQTEERRASLPGR-DDNSYMYILFV>M<FLFAVTVGSLILGYTRSRKVDKRSDPYHVY | 95 |
| KCNE4 | TAASSSPLES-RAAGGGSGNGNEYFYILVV>M<SFYGIFLIGIMLGYMKSKRREKKSSLLLLY | 73 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I57T | c.170T>C | Conflict | rs74315448 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999 97(2):175-87. 10219239 | |||
| Other Cardiac Phenotype | A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A. 2000 97(19):10613-8. 10984545 | ||||
| Inherited Arrhythmia | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| 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 | 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 | |||
| Other Cardiac Phenotype | KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders. Heart Rhythm. 2010 7(2):199-205. 20042375 | ||||
| Other Cardiac Phenotype | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | ||||
| Other Cardiac Phenotype | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | ||||
| Inherited Arrhythmia | AF | Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart Rhythm. 2014 11(2):246-51. doi: 10.1016/j.hrthm.2013.10.034. 24144883 | |||
| Other Cardiac Phenotype | Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation. Biomark Med. 2014 8(4):557-70. doi: 10.2217/bmm.13.137. 24796621 | ||||
| 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 | ||||
| Other Cardiac Phenotype | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | ||||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| p.I57M | c.171T>G | Putative Benign | rs146053586 | SIFT: deleterious Polyphen: benign | |