Paralogue Annotation for KCNE2 residue 41

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 41
Reference Amino Acid: V - Valine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE2 residue 41

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE3	R53H	Atrial fibrillation, familial	Low	3	16313760

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	RRIFITYMDNW----RQNTTAEQEALQA-K>V<DAENFY--YVILYLMVMIGMFSFIIVAILV	69
KCNE1	TKLWQE---T------VQQGGN-MSGLA-R>R<SPRSSDGKLEALYVLMVLGFFGFFTLGIML	63
KCNE3	KALNATLHSNLLCRPGPGLGPD-NQTEERR>A<SLPGR-DDNSYMYILFVMFLFAVTVGSLIL	77
KCNE4	-MLKMEPLNST----HPGTAASSSPLES-R>A<AGGGSGNGNEYFYILVVMSFYGIFLIGIML	55
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

There are currently no reported variants at residue 41 for KCNE2.