Figure 2.
The gene is represented with exons labeled from 1 to 10, and the protein is depicted with four domains: signal peptide (SP), dimerization domain (DD), catalytic domain (CD), and putative receptor binding domain (PRBD). Specific amino acid positions and mutations are annotated along the protein structure. The diagram shows the spatial relationships between the gene exons and the corresponding protein domains, with arrows indicating the locations of various mutations.
Schematic representation of the ADA2 gene and ADA2 protein with disease-associated mutations adapted from Dzhus et al. (15). SP, signal peptide; DD, dimerization domain; CD, catalytic domain; PRBD, putative receptor–binding domain.