FIGURE

Figure 1.

ID

ZDB-FIG-260423-49

Publication

Wei et al., 2026 - A Novel CRYBB2 Splicing Mutation Is Associated With Lens Extracellular Matrix Remodeling and Vascular Alterations in Congenital Cataract

Other Figures

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Figure 1.

Clinical, genetic, and structural characterization of a five-generation family with CC. (A) Pedigree of a five-generation family with CC. Generations are labeled I–V. Symbols indicate sex and phenotype; the proband is marked with a black arrow. (B) Representative ophthalmic examinations of the proband (IV-6) and her affected parents (III-6 and III-7). The clinical imaging includes ophthalmic ultrasound examinations (for IV-6, III-6, and III-7), scanning laser ophthalmoscopy (for IV-6), and slit-lamp anterior segment photography (for III-6 and III-7). (C) Schematic diagram of CRYBB2 protein domains, with the splice-site mutation c.450-2A>G mapped to the intron-exon boundary. (D) Conservation analysis of the CRYBB2 locus across multiple species, illustrating cross-species sequence alignment. (E) AlphaFold-predicted three-dimensional structural models of WT and mutant CRYBB2 proteins, with Greek key motifs and terminal regions color-coded. Merged structural overlay is also shown. (F) Molecular dynamics simulations comparing WT and mutant CRYBB2 proteins, including RMSD trajectories.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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