FIGURE

Figure 3

ID

ZDB-FIG-251115-137

Publication

Imperatore et al., 2025 - Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model

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Figure 3

In silico analysis of the AP1G1 Gly66Arg variant. (A) Pathogenicity prediction using HOPE, SIFT, MutPred2, and DynaMut2, indicating a deleterious effect of the substitution. (B) Structural comparison of glycine and arginine. (C) Position of Arg66 (red sticks) and surrounding residues within 5 Å (gray sticks) in the AP1 complex model generated using AlphaFold. (D) Secondary structural organization of residues from Tyr61 to Leu71. For each residue, the percentage of secondary structure adopted during the molecular dynamics (MD) simulation was reported as the average across three replicas for both the wild-type (WT) and mutant (G66R) systems. The analysis included the percentage of loop (%loop) and α-helix (%α-helix) conformations.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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