Fig. 1: Conservation and protein location of likely pathogenic USP9X-female variants.
From: Missense variant contribution to USP9X-female syndrome
a Cross species protein alignment of USP9X showing conservation of altered amino acid residues. b Location of female likely pathogenic variants on the USP9X protein structure. USP9X variation tolerance landscape is provided (see Materials and Methods). Locations of male likely pathogenic variants and predicted deleterious missense somatic cancer variants (extracted from COSMIC database with CADD score ≥30) are shown for comparison.
