FIGURE

Figure S1.

ID

ZDB-FIG-260131-108

Publication

Valagussa et al., 2025 - A heterozygous USB1 variant linked to immunodeficiency

Other Figures

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Figure S1.

Structural analysis of the P44L mutation in the USB1 protein. (A) The de novo variant is situated within the only modeled ternary structure of the N-terminal domain, which is predicted to be predominantly disordered (AF-Q9BQ65-F1-v4, AlphaFold Protein Structure Database [10, 11, 12]). (B) Comparison of the local structural environment around residue 44 in the wild-type (USB1^WT) and mutant (USB1^P44L) proteins. The model was visualized using the PyMOL Molecular Graphics System (Version 3.1.0 Schrödinger, LLC).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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