FIGURE

Figure 1

ID

ZDB-FIG-260530-201

Publication

Mencacci et al., 2026 - Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

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Figure 1

Family pedigrees and bi-allelic BORCS5 variants. (A) Family pedigrees and genotypes of cases with bi-allelic BORCS5 pathogenic variants. Triangles indicate spontaneous miscarriages, and crossed triangles indicate elective pregnancy terminations. (B) Schematic of BORCS5 protein indicating the position of the identified pathogenic BORCS5 variants. (C) Conservation across species of the amino acid residues involved by the identified pathogenic missense variants R95Q and H99P. (D) Graphic representation of intolerance to BORCS5 variants. Using Metadome software (https://stuart.radboudumc.nl/metadome/), we mapped the identified missense variants, which both affect amino acid residues that show marked intolerance to their variation. (E) Structure of BORCS5 predicted by AlphaFold and localization of coding variants identified in this study.

Expression Data

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Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Journal of Clin. Invest.