Paralogue Annotation for KCNE2 residue 4

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 4
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNE2 residue 4

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE3T4ALong QT syndromeMedium4 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 KCNE2.



KCNE2MST>L<SN---FTQTLEDVFRRIFITYMDNW----R27
KCNE1--M>I<LS---NTTAVTPFLTKLWQE---T------20
KCNE3MET>T<NGTETWYESLHAVLKALNATLHSNLLCRPG34
KCNE4--->-<---------------MLKMEPLNST----H11
cons   > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

There are currently no reported variants at residue 4 for KCNE2.