Paralogue Annotation for KCNE2 residue 54

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 54
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNE2 residue 54

No paralogue variants have been mapped to residue 54 for KCNE2.



KCNE2RQNTTAEQEALQA-KVDAENFY--YVILYL>M<VMIGMFSFIIVAILVSTVKSKRREHSNDPY84
KCNE1-VQQGGN-MSGLA-RRSPRSSDGKLEALYV>L<MVLGFFGFFTLGIMLSYIRSKKLEHSNDPF78
KCNE3GPGLGPD-NQTEERRASLPGR-DDNSYMYI>L<FVMFLFAVTVGSLILGYTRSRKVDKRSDPY92
KCNE4HPGTAASSSPLES-RAAGGGSGNGNEYFYI>L<VVMSFYGIFLIGIMLGYMKSKRREKKSSLL70
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M54Tc.161T>C ConflictSIFT: deleterious
Polyphen: probably damaging
ReportsOther 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.M54Vc.160A>G Putative BenignSIFT: deleterious
Polyphen: benign