Paralogue Annotation for KCNE2 residue 14

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 14
Reference Amino Acid: V - Valine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNE2 residue 14

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE3V17MAtrial fibrillationMedium3 18209471

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.



KCNE2MSTLSN---FTQTLED>V<FRRIFITYMDNW----RQNTTAEQEALQA-39
KCNE1--MILS---NTTAVTP>F<LTKLWQE---T------VQQGGN-MSGLA-31
KCNE3METTNGTETWYESLHA>V<LKALNATLHSNLLCRPGPGLGPD-NQTEER46
KCNE4---------------->-<--MLKMEPLNST----HPGTAASSSPLES-23
cons                > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V14Ic.40G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited 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
Inherited ArrhythmiaLQTS Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283
Inherited ArrhythmiaLQTS 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
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
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