Figure 1.

Recurrent somatic mutations of UBA1 active adenylation domain. (A) Sanger sequencing of UBA1 on DNA extracted from bone marrow (top) or skin biopsy or T lymphocytes from 2 different patients with mutation of the AAD domain. (B) Schematic representation of the functional domains of UBA1, and localization of constitutional (top) and somatic (bottom) mutations of UBA1. (C) Graphical representation of evolutionarily constrained regions of UBA1 and UBA1-AAD variants localization on 3D representation (Alphafold Protein Structure Database).^6,7 AAD = active adenylation domain; UBA1 = ubiquitin-like modifier activating enzyme 1.