Fig. 3: Structural modelling of USP9X-female variants located in the catalytic domain.
From: Missense variant contribution to USP9X-female syndrome
a Homology model of USP9X (grey) with catalytic site (magenta), likely pathogenic female variants (red) and location of predicted deleterious cancer variants (blue; extracted from COSMIC database with CADD score >30). Interaction with ubiquitin is shown. Likely pathogenic variants are positioned in regions of well‐ordered secondary structure or flexible regions involved in zinc-binding. b Insets indicate local structural effects of indicated likely pathogenic female USP9X variants. All native amino acid side chains are represented as grey sticks. Variant amino side chains are indicated by red sticks. Side chains of the amino acids forming the core catalytic site are indicated by magenta sticks. Location of cancer variants is highlighted in blue. Zinc ion is represented with a yellow sphere. Hydrophobic van der vaals radii are indicated by dots and charge–charge interactions are shown by dotted lines.
