DAG1
Chr 3ARdystroglycan 1
Also known as: 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
Dystroglycan is a central component of the dystrophin-glycoprotein complex that links the extracellular matrix to the cytoskeleton in skeletal muscle and is involved in laminin binding, sarcolemmal stability, and synapse formation. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy, which ranges from severe congenital forms with brain and eye anomalies to milder limb-girdle presentations. The gene is highly constrained against loss-of-function variants, reflecting its critical role in muscle and nervous system development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
DAG1 · 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
External Resources
Links to major genomics databases and tools