Figure 1.
The diagram presents a linear gene structure with ten numbered exons and corresponding protein domains below. Numerous nucleotide and amino acid variants are mapped across the gene and protein, highlighting mutations distributed throughout signal peptide, dimerization, receptor-binding, and catalytic regions.
ADA2 variants are distributed throughout the entire gene. ADA2 gene (above) and protein (below). Exons 1–10 are depicted as bars, and introns as lines (not to scale). Variants in this cohort are colored in green, red, or blue, depending on residual in vitro activity, as described by Lee et al. (13), corresponding to high (>3% of wild-type activity), low (<3% of wild-type activity), or no (0% of wild-type activity) residual enzyme activity. If the given variant was not described by Lee et al. (13), it was colored black. The protein comprises a signal peptide (SP), dimerization domain (DD), catalytic domain (CD), and putative receptor-binding domain (PRBD).