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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE3	V17M	Atrial fibrillation	Medium	3	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.

KCNE2	MSTLSN---FTQTLED>V<FRRIFITYMDNW----RQNTTAEQEALQA-	39
KCNE1	--MILS---NTTAVTP>F<LTKLWQE---T------VQQGGN-MSGLA-	31
KCNE3	METTNGTETWYESLHA>V<LKALNATLHSNLLCRPGPGLGPD-NQTEER	46
KCNE4	---------------->-<--MLKMEPLNST----HPGTAASSSPLES-	23
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V14I	c.40G>A	Inherited Arrhythmia	LQTS	rs142153692	SIFT: tolerated Polyphen: benign
Reports		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	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 Arrhythmia	LQTS	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