Paralogue Annotation for KCNE2 residue 92

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 92
Reference Amino Acid: W - Tryptophan
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE2 residue 92

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	W87R	Long QT syndrome	High	8	10400998, 12566567, 22934933

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	IVAILVSTVKSKRREHSNDPYHQYIVED-->W<QEKYKSQILNL-------------------	103
KCNE1	TLGIMLSYIRSKKLEHSNDPFNVYIESDA->W<QEKDKAYVQARVLESYRSCYVV--------	109
KCNE3	VGSLILGYTRSRKVDKRSDPYHVYIKN--->-<------------------------------	98
KCNE4	LIGIMLGYMKSKRREKKSSLLLLYKDEERL>W<GEAMKPLPVVSGLRSVQVPLMLNMLQESVA	110
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

There are currently no reported variants at residue 92 for KCNE2.