COL6A1 (Collagen alpha-1(VI) chain) variants and mutations

COL6A1 (also known as Collagen alpha-1(VI) chain) is a human protein-coding gene encoding a collagen alpha-1(VI) chain protein. It contributes to extracellular microfibrils that connect cells with surrounding matrix and are especially important in skeletal muscle and connective tissue. Pathogenic variants can cause collagen VI-related myopathies ranging from Bethlem muscular dystrophy to severe Ullrich congenital muscular dystrophy. This analysis covers 1,705 COL6A1 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, and Bethlem myopathy. Example COL6A1 variants include M1L, R2K, and R2M.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable COL6A1 variants

Examples include M1L, R2K, R2M, R2G, R2T, A3G, A3V, A3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.