COL6A3
Chr 2ADARcollagen type VI alpha 3 chain
Also known as: BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C
The alpha-3 chain of type VI collagen organizes extracellular matrix components in connective tissues by binding matrix proteins through its von Willebrand Factor type A domains. Mutations cause Bethlem myopathy (autosomal dominant, milder proximal myopathy with early childhood onset), Ullrich congenital muscular dystrophy (autosomal recessive, more severe congenital myopathy), and dystonia 27. The pathogenic mechanism involves gain-of-function effects.
Definitive — sufficient evidence for diagnostic panels
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COL6A3 · 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