No paralogue variants have been mapped to residue 76 for KCNE1.
| KCNE1 | YVLMVLGFFGFFTLGIMLSYIRSKKLEHSN>D<PFNVYIESDA-WQEKDKAYVQARVLESYRS | 105 |
| KCNE2 | YLMVMIGMFSFIIVAILVSTVKSKRREHSN>D<PYHQYIVED--WQEKYKSQILNL------- | 103 |
| KCNE3 | YILFVMFLFAVTVGSLILGYTRSRKVDKRS>D<PYHVYIKN---------------------- | 98 |
| KCNE4 | YILVVMSFYGIFLIGIMLGYMKSKRREKKS>S<LLLLYKDEERLWGEAMKPLPVVSGLRSVQV | 98 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D76N | c.226G>A | Inherited Arrhythmia | LQTS,JLNS,CPVT | rs74315445 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | JLNS | KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997 17(3):267-8. 9354783 | ||
| Inherited Arrhythmia | LQTS | Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997 17(3):338-40. 9354802 | |||
| Inherited Arrhythmia | LQTS | Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation. 1998 97(2):142-6. 9445165 | |||
| 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 | CPVT | Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm. 2006 3(7):800-5. 16818210 | |||
| 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 | IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet. 1997 6(12):2179-85. 9328483 | |||
| Inherited Arrhythmia | JLNS | Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. FASEB J. 2002 16(3):390-400. 11874988 | |||
| Inherited Arrhythmia | JLNS | Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. Proc Natl Acad Sci U S A. 2003 100(4):2122-7. 12566567 | |||
| Inherited Arrhythmia | JLNS | Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants. EMBO J. 1999 18(15):4137-48. 10428953 | |||
| Inherited Arrhythmia | JLNS | 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 | |||
| Other Cardiac Phenotype | Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. J Am Coll Cardiol. 2014 63(14):1430-7. doi: 10.1016/j.jacc.2014.01.031. 24561134 | ||||
| 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 | Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Hum Genomics. 2015 9:15. doi: 10.1186/s40246-015-0038-y. 26187847 | ||||