Paralogue Annotation for KCNE2 residue 82

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 82
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE2 residue 82

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	D76N	Jervell and Lange-Nielsen syndrome	High	9	9354783, 11874988, 19716085, 12566567, 10428953, 24400172, 24561134, 25637381, 26187847

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	YLMVMIGMFSFIIVAILVSTVKSKRREHSN>D<PYHQYIVED--WQEKYKSQILNL-------	103
KCNE1	YVLMVLGFFGFFTLGIMLSYIRSKKLEHSN>D<PFNVYIESDA-WQEKDKAYVQARVLESYRS	105
KCNE3	YILFVMFLFAVTVGSLILGYTRSRKVDKRS>D<PYHVYIKN----------------------	98
KCNE4	YILVVMSFYGIFLIGIMLGYMKSKRREKKS>S<LLLLYKDEERLWGEAMKPLPVVSGLRSVQV	98
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D82E	c.246C>A	Putative Benign			SIFT: deleterious Polyphen: possibly damaging