COL6A1
Chr 21ADARcollagen type VI alpha 1 chain
Also known as: BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A
The protein encodes the alpha-1 subunit of type VI collagen, which forms heterotrimers that are major structural components of extracellular matrix microfibrils. Mutations cause Bethlem myopathy and Ullrich congenital muscular dystrophy through both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves disruption of the collagen VI heterotrimer structure, compromising extracellular matrix integrity in muscle and other tissues.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and dominant-negative). The Badonyi & Marsh model scores gain-of-function highest among its predictions, but genomic evidence (constraint, ClinVar variant spectrum, and literature) most strongly supports loss-of-function (haploinsufficiency). Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
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
COL6A1 · 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