Case Report

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

Figure 3

TNFAIP3 electrostatic mapping for interaction potential. Full-length model for the entire TNFAIP3 structure with electrostatics calculated using Poisson-Boltzmann (PB) calculation overlaid onto the structure. The relevant region is zoomed in to show all residues within 12 Å of residue position 22. (a) Interacting residues surrounding Arg22 are given with PB electrostatics mapped onto the protein surface. The white label gives the residues’ position. The electrostatic map shows the negative to positive (red to blue) distribution and the contours and shape of the protein in this region. (b) Mutant variant p.R22Q TNFAIP3 model is given with electrostatics overlaid, indicating a muted negative charge. The depiction is similar to that in (a).
(a)
(b)