Whole Exome Sequencing and Molecular Modeling of a Missense Variant in<i> TNFAIP3</i> That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

<div>TNFAIP3 molecular model for full-length human sequence consisting of 791 amino acids and the variant p.R22Q. (a) Full-length model for the entire TNFAIP3 structure with electrostatic mapping onto the ribbon structure is shown. The density map is cut away to reveal where Arg22 and Gln22 play a role in the interaction between the helix and the loop. (b) Zoom-in on the wild type for the Arg22 residue from the full-length model to better show the interacting residues. (c) Zoom-in on the region around the Gln22 variant, showing nearby residues. All protein residues shown in licorice rendering and using standard element coloring (C-gray, O-red, N-blue, H-white, and S-yellow) except for the highlighted residues (Arg22: orange carbons, Gln22: green carbons).</div>

Case Reports in Genetics

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Figure 2: Whole Exome Sequencing and Molecular Modeling of a Missense Variant in<i> TNFAIP3</i> That Segregates with Disease in a Family with Chronic Urticaria and Angioedema 

Figure 2 | Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema 