Paralogue Annotation for KCNE1 residue 18

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 18
Reference Amino Acid: Q - Glutamine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 18

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	I20N	Long QT syndrome	Low	2	19716085

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---NTTAVTPFLTKLW>Q<E---T------VQQGGN-MSGLA-RRSPRS	37
KCNE2	MSTLSN---FTQTLEDVFRRIF>I<TYMDNW----RQNTTAEQEALQA-KVDAEN	45
KCNE3	METTNGTETWYESLHAVLKALN>A<TLHSNLLCRPGPGLGPD-NQTEERRASLPG	52
KCNE4	-------------------MLK>M<EPLNST----HPGTAASSSPLES-RAAGGG	29
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 18 for KCNE1.