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

Figure 5

The hydrogen bonds formed between the CH2 and CH3 interface for wild plastin-3 system (a) and Glu249_Ala250ins12 system (b), respectively. The protein is represented with colored cartoon, red for the LOOP-1 region, blue for CH2 domain, and green for CH3 domain, respectively. Residues involved in the h-bonds interactions are highlighted with sticks.

(a)

(b)