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

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 KCNE1.



KCNE1--MIL>S<---NTTAVTPFLTKLWQE---T------VQ22
KCNE2MSTLS>N<---FTQTLEDVFRRIFITYMDNW----RQN29
KCNE3METTN>G<TETWYESLHAVLKALNATLHSNLLCRPGPG36
KCNE4----->-<-------------MLKMEPLNST----HPG13
cons     > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

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