No paralogue variants have been mapped to residue 54 for KCNE2.
| KCNE2 | RQNTTAEQEALQA-KVDAENFY--YVILYL>M<VMIGMFSFIIVAILVSTVKSKRREHSNDPY | 84 |
| KCNE1 | -VQQGGN-MSGLA-RRSPRSSDGKLEALYV>L<MVLGFFGFFTLGIMLSYIRSKKLEHSNDPF | 78 |
| KCNE3 | GPGLGPD-NQTEERRASLPGR-DDNSYMYI>L<FVMFLFAVTVGSLILGYTRSRKVDKRSDPY | 92 |
| KCNE4 | HPGTAASSSPLES-RAAGGGSGNGNEYFYI>L<VVMSFYGIFLIGIMLGYMKSKRREKKSSLL | 70 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M54T | c.161T>C | Conflict | rs74315447 | 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 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 | An LQTS6 MiRP1 Mutation Suppresses Pacemaker Current and is Associated with Sinus Bradycardia. J Cardiovasc Electrophysiol. 2013 23631727 | ||||
| Other Cardiac Phenotype | In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome. J Mol Cell Cardiol. 2014 72:126-37. doi: 10.1016/j.yjmcc.2014.02.018. 24631769 | ||||
| Unknown | Disease variants in genomes of 44 centenarians. Mol Genet Genomic Med. 2014 2(5):438-50. doi: 10.1002/mgg3.86. 25333069 | ||||
| Other Cardiac Phenotype | Pacemaker activity of the human sinoatrial node: effects of HCN4 mutations on the hyperpolarization-activated current. Europace. 2014 16(3):384-95. doi: 10.1093/europace/eut348. 24569893 | ||||
| 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 | ||||
| Other Cardiac Phenotype | In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome. J Mol Cell Cardiol. 2015 87:271-82. 26859003 | ||||
| p.M54V | c.160A>G | Putative Benign | rs371724328 | SIFT: deleterious Polyphen: benign | |