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. 2019 Mar 14;104(4):596–610. doi: 10.1016/j.ajhg.2019.02.001

Figure 1.

Figure 1

Characterization of SMARCD1 Variants at the Protein Level

(A) Primary structure of SMARCD1. The SWIB domain is shown in green, and the predicted coiled-coil domains (C1, C2, and C3) are shown in pink. The locations of the identified variants are indicated. Missense and nonsense variants are in blue and orange, respectively.

(B) Amino acid conservation of regions around missense variants across several species.

(C) Predicted 3D model of SMARCD1. Missense variants are show in red. Residues truncated by the p.Trp486∗ variant are colored in blue, and the following residues truncated by both the p.Trp486∗ and p.Arg503∗ variants are colored in orange.