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. 2018 Jul 6;11:223. doi: 10.3389/fnmol.2018.00223

Figure 1.

Figure 1

A de novo missense mutation in the P-loop region of Rac1 in an individual with severe intellectual disability (ID) is predicted to prevent Rac1 activation. (Top) Rac1 protein regions are indicated, starting with the N terminus: P-loop region, switch I and switch II. Location of a de novo ID-related missense mutation and control missense mutations are shown. (Bottom) The predicted effect of the severe ID-related mutation is shown. Rac1’s ribbon structure is shown in orange (Protein Data Bank code 3TH5). Rac1’s GTP binding pocket is shown as a transparent white surface. The tyrosine at position 18 observed in an individual with severe ID is labeled and shown in stick representation and colored magenta. A GTP analog (GMP-PNP) is shown in stick representation with carbon atoms colored pale yellow.