A rare UGT2B7 variant creates a novel N-glycosylation site at codon 121 with impaired enzyme activity
- Benoît-Biancamano, Marie-Odile
- Desjardins, Sylvie
- Guillemette, Chantal
- Girard-Bock, Camille
- Villeneuve, Lyne
DOIAbstract
UDP-glucuronosyltransferase (UGT) superfamily are glycoproteins resident of the endoplasmic reticulum membranes that undergo post-translational modifications (PTM). UGT2B7 is of particular interest because of its action on a wide variety of drugs. Most studies currently survey common variants and are only examining a small fraction of the genetic diversity. However, rare variants (frequency <1%) might have significant effect as they are predicted to greatly outnumber common variants in the human genome. Here, we discovered a rare single nucleotide UGT2B7 variant of potential pharmacogenetic relevance that encodes a nonconservative amino acid substitution at codon 121. This low-frequency variation, found in two individuals of a population of...
Add to ORKG