DLG1
Chr 3discs large MAGUK scaffold protein 1
Also known as: DLGH1, SAP-97, SAP97, hdlg
This gene encodes an essential multidomain scaffolding protein that recruits channels, receptors and signaling molecules to discrete plasma membrane domains and maintains cell-cell adhesion in polarized cells. Mutations cause intellectual disability with seizures, and the gene shows autosomal dominant inheritance. The gene is highly constrained against loss-of-function mutations, reflecting its critical role in normal development and neuronal function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
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
281 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 85 | 0 | 85 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 100 | 23 | 0 | 123 |
Likely Benign | 0 | 5 | 7 | 7 | 19 |
Benign | 0 | 4 | 2 | 4 | 10 |
Conflicting | — | 1 | |||
| Total | 0 | 109 | 120 | 11 | 241 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DLG1 · 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