PMC6339927_01
(A) Location of the p.Y456C mutation. The Y456 residue is located in an alpha-helical segment and inserted between hydrophobic residues. (B) Structural abnormality of the ADA2 protein generated by the p.W399* mutation. In yellow, the portion of the protein that is lacking due to the stop codon introduced by the mutation. Figures generated with Pymol (http://www.pymol.org).
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PMC6339927_01_fimmu-09-02767-g0001.jpg
F1
The p.Y456C mutation affects a hydrophobic pocket of ADA2 (Figure 1A). The p.W399* mutation instead leads to a truncation of the protein C-terminus, removing key residues required for the correct folding of the active site, and resulting in a solvent-exposed catalytic Zn2+ ion (Figure 1B).