DAP3
Chr 1ARdeath associated protein 3
Also known as: DAP-3, MRP-S29, MRPS29, PRLTS7, S29mt, bMRP-10, mS29
The protein functions as a component of the mitochondrial small ribosomal subunit and translates mitochondrial mRNAs, displaying GTPase activity and participating in interferon-gamma-induced cell death pathways. Mutations cause Perrault syndrome 7, an autosomal recessive disorder characterized by sensorineural hearing loss and ovarian dysgenesis in females. The gene is highly constrained against loss-of-function variants (pLI ~0, LOEUF 1.105), indicating that heterozygous loss-of-function is well-tolerated but homozygous loss causes disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DAP3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools