DLGAP3
Chr 1DLG associated protein 3
Also known as: DAP3, SAPAP3, SPAPA3
DLGAP3 encodes a synaptic scaffold protein that organizes postsynaptic density complexes and links ion channels to the cytoskeleton at glutamatergic and cholinergic synapses. Mutations cause autosomal dominant intellectual disability with autism spectrum disorder features. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.14), indicating intolerance to protein truncation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DLGAP3 · 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