Paralogue Annotation for KCNE1 residue 12

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 12
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 12

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	V14I	Long QT syndrome	Medium	3	19716085, 23465283, 24055113, 25637381
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 KCNE1.

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

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 12 for KCNE1.