No paralogue variants have been mapped to residue 85 for KCNE1.
| KCNE1 | GFFTLGIMLSYIRSKKLEHSNDPFNVYIES>D<A-WQEKDKAYVQARVLESYRSCYVV----- | 109 |
| KCNE2 | SFIIVAILVSTVKSKRREHSNDPYHQYIVE>D<--WQEKYKSQILNL---------------- | 103 |
| KCNE3 | AVTVGSLILGYTRSRKVDKRSDPYHVYIKN>-<------------------------------ | 98 |
| KCNE4 | GIFLIGIMLGYMKSKRREKKSSLLLLYKDE>E<RLWGEAMKPLPVVSGLRSVQVPLMLNMLQE | 107 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D85N | c.253G>A | Conflict | rs1805128 | SIFT: deleterious Polyphen: benign | |
| Reports | 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 | ||
| Putative Benign | Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet. 2000 45(3):182-3. 10807545 | ||||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | ||||
| Other Cardiac Phenotype | 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 | ||||
| Other Cardiac Phenotype | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | ||||
| Putative Benign | Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693 | ||||
| Other Cardiac Phenotype | Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet. 2005 13(11):1213-22. 16132053 | ||||
| Putative Benign | Possible association of the human KCNE1 (minK) gene and QT interval in healthy subjects: evidence from association and linkage analyses in Israeli families. Ann Hum Genet. 2005 69(Pt 6):645-56. 16266404 | ||||
| Inherited Arrhythmia | LQTS | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||
| Inherited Arrhythmia | AF | Potassium channel gene mutations rarely cause atrial fibrillation. BMC Med Genet. 2006 7:70. 16887036 | |||
| Inherited Arrhythmia | AF | The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population. Cardiology. 2007 108(2):97-103. 17016049 | |||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Other Cardiac Phenotype | Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444 | ||||
| Other Cardiac Phenotype | D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol. 2009 54(9):812-9. 19695459 | ||||
| Other Cardiac Phenotype | Aborted cardiac arrest in a patient carrying KCNE1 D85N variant during the postpartum period. Intern Med. 2010 49(17):1875-8. 20823649 | ||||
| Other Cardiac Phenotype | KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome? BMC Med Genet. 2011 12:11. 21244686 | ||||
| Other Cardiac Phenotype | LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. Europace. 2011 13(10):1478-83. 21712262 | ||||
| Other Cardiac Phenotype | A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet. 2012 5(1):91-9. 22100668 | ||||
| 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 informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 | ||||
| Other Cardiac Phenotype | Drug-induced QT-interval prolongation and recurrent torsade de pointes in a child with heterotaxy syndrome and KCNE1 D85N polymorphism. J Electrocardiol. 2012 45(6):770-3. doi: 10.1016/j.jelectrocard.2012.07.0 22999324 | ||||
| Other Cardiac Phenotype | The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. Hum Mutat. 2006 27(8):786-95. 16823764 | ||||
| Other Cardiac Phenotype | A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1. Heart Rhythm. 2013 10(4):600-3. doi: 10.1016/j.hrthm.2012.12.008. 23237912 | ||||
| Other Cardiac Phenotype | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||||
| Unknown | Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. J Mol Cell Cardiol. 1996 28(9):2051-5. 8899564 | ||||
| Other Cardiac Phenotype | 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 | ||||
| Inherited Arrhythmia | LQTS | Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684 | |||