Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18

Figure 3

Structures of wild-type and mutant plastin-3. The run of the protein chain is shown as a secondary structure cartoon color-coded according to five domains. (a) Classical view of the structure of the wild-type plastin-3. The EF-hand domains are shown in yellow, CH1 in blue, CH2 in cyan, CH3 in green, CH4 in pink, and the LOOP-1 region in red, respectively. Mutant plastin-3 structures are shown in (b) (c.759_760 ins AAT), (c) (c.748ins36), (d) (c.1103C > A), and (e) (c.1433G > A), respectively. The location of the mutated residues is highlighted in black circle, and residues are highlighted in sticks.

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