COL22A1
Chr 8collagen type XXII alpha 1 chain
The protein is a fibril-associated collagen that stabilizes myotendinous junctions and strengthens skeletal muscle attachments during contractile activity, while also functioning as a cell adhesion ligand for skin epithelial cells and fibroblasts. Mutations cause autosomal recessive myopathy with joint contractures. This gene is not highly constrained against loss-of-function variants, and the associated myopathy primarily affects the musculoskeletal system with characteristic joint involvement.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COL22A1 · 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