Paralogue Annotation for KCNE2 residue 53

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 53
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNE2 residue 53

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1V47FLong QT syndromeMedium9 10400998
KCNE1V47ITinnitus ?Medium9

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-RQNTTAEQEALQA-KVDAENFY--YVILY>L<MVMIGMFSFIIVAILVSTVKSKRREHSNDP83
KCNE1--VQQGGN-MSGLA-RRSPRSSDGKLEALY>V<LMVLGFFGFFTLGIMLSYIRSKKLEHSNDP77
KCNE3PGPGLGPD-NQTEERRASLPGR-DDNSYMY>I<LFVMFLFAVTVGSLILGYTRSRKVDKRSDP91
KCNE4-HPGTAASSSPLES-RAAGGGSGNGNEYFY>I<LVVMSFYGIFLIGIMLGYMKSKRREKKSSL69
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

There are currently no reported variants at residue 53 for KCNE2.