Presented by
Stephanie Olivier-Van Stichelen, PhD
Associate Professor, Biochemistry, Medical College of Wisconsin, USA
O-GlcNAcylation is a key regulatory modification long thought to be intolerant to genetic variation, but recent discoveries of OGT mutations in X-linked intellectual disability have challenged this view. Here, we present a comprehensive, curated database of OGT and OGA variants integrating clinical, population, and cancer mutation data with structural mapping. Our analysis reveals distinct mutation hotspots with opposing clinical outcomes, providing a new framework to link O-GlcNAc enzyme variation to human disease.