Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing

Figure 2

Biophysical analyses of the FLNB: c.601G>A(p.Ala201Thr) variation: (a) the conservation of FLNB Ala201 between multiple species; (b) part of the three-dimensional structure of the wild type FLNB, with the CH2 subdomain in blue and the actin-binding site 3 in yellow; (c) part of the three-dimensional structure of the mutant FLNB, with the CH2 subdomain in blue and the actin-binding site 3 in yellow; (d) the detailed red block in (b) showing Ala201; (e) the detailed red block in (c) showing Thr201 and the extra hydrogen bonds among T201 and L181, K152, and S177.

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