Paralogue Annotation for KCNE2 residue 121

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 121
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE2 residue 121

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	P127T	Long QT syndrome	Medium	8	10973849, 15051636, 24912595, 25037568

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	------EE-----SKATIHE--NIGAAGFK>M<S----------------P	123
KCNE1	------EN-----HLAIEQP--NTHLPETK>P<S----------------P	129
KCNE3	-------------RVSM------------->-<-----------------I	103
KCNE4	GDSVSSESSSPDVHLTIQEEGADDELEETS>E<TPLNESSEGSSENIHQNS	170
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M121K	c.362T>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	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