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. 2023 Mar 24;7(4):e868.
doi: 10.1097/HS9.0000000000000868. eCollection 2023 Apr.

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome

Alyx Faurel  1 , Maël Heiblig  2 , Olivier Kosmider  3 , Jérôme Cornillon  4 , Laurence Boudou  5 , Denis Guyotat  4 , Jean-Alain Martignoles  4 , Yvan Jamilloux  6 , Pauline Noyel  1 , Elisabeth Daguenet  4 , Anne-Camille Faure  1 , Pierre Sujobert  7 , Pascale Flandrin-Gresta  1
Affiliations

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome

Alyx Faurel et al. Hemasphere. .
No abstract available

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

Figure 1.
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)., AAD = active adenylation domain; UBA1 = ubiquitin-like modifier activating enzyme 1.
See this image and copyright information in PMC

References

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