DAP3 (P51398) variants and mutations

DAP3 (also known as P51398) is a human protein-coding gene encoding a small ribosomal subunit protein mS29 protein. It forms part of the small mitochondrial ribosomal subunit, supporting synthesis of proteins encoded by mitochondrial DNA, and also participates in cell-death signaling. Biallelic pathogenic variants can cause Perrault syndrome 7, with sensorineural hearing loss and ovarian dysfunction in affected females, sometimes accompanied by neurological features. This analysis covers 651 DAP3 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes Perrault syndrome 7, neurodegenerative disease, and grange syndrome. Example DAP3 variants include M2I, M2V, and M2L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Diseases linked to DAP3

Notable DAP3 variants

Examples include M2I, M2V, M2L, L3L, G5E, G5R, G5V, G5*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.