Paralogue Annotation for KCNE1 residue 4

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 4
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 4

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE3	T4A	Long QT syndrome	Medium	4	19306396, 22987075

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	--MIL>S<---NTTAVTPFLTKLWQE---T------VQ	22
KCNE2	MSTLS>N<---FTQTLEDVFRRIFITYMDNW----RQN	29
KCNE3	METTN>G<TETWYESLHAVLKALNATLHSNLLCRPGPG	36
KCNE4	----->-<-------------MLKMEPLNST----HPG	13
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 4 for KCNE1.