Paralogue Annotation for KCNE2 residue 18

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 18
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE2 residue 18

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	L16P	Long QT syndrome	Medium	4	24363352

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	MSTLSN---FTQTLEDVFRR>I<FITYMDNW----RQNTTAEQEALQA-KVDA	43
KCNE1	--MILS---NTTAVTPFLTK>L<WQE---T------VQQGGN-MSGLA-RRSP	35
KCNE3	METTNGTETWYESLHAVLKA>L<NATLHSNLLCRPGPGLGPD-NQTEERRASL	50
KCNE4	-------------------M>L<KMEPLNST----HPGTAASSSPLES-RAAG	27
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

There are currently no reported variants at residue 18 for KCNE2.