Paralogue Annotation for KCNE2 residue 58

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 58
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNE2 residue 58

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1G52RLong QT syndromeHigh9 14499862, 19907016

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.



KCNE2TAEQEALQA-KVDAENFY--YVILYLMVMI>G<MFSFIIVAILVSTVKSKRREHSNDPYHQYI88
KCNE1GGN-MSGLA-RRSPRSSDGKLEALYVLMVL>G<FFGFFTLGIMLSYIRSKKLEHSNDPFNVYI82
KCNE3GPD-NQTEERRASLPGR-DDNSYMYILFVM>F<LFAVTVGSLILGYTRSRKVDKRSDPYHVYI96
KCNE4AASSSPLES-RAAGGGSGNGNEYFYILVVM>S<FYGIFLIGIMLGYMKSKRREKKSSLLLLYK74
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

There are currently no reported variants at residue 58 for KCNE2.