COL14A1
Chr 8collagen type XIV alpha 1 chain
Also known as: UND
The encoded protein is the alpha chain of type XIV collagen, which plays an adhesive role by integrating collagen bundles and regulating collagen fibril formation in connective tissues. Mutations cause Ehlers-Danlos syndrome, musculocontractural type 2, which follows an autosomal recessive inheritance pattern and presents with joint contractures, skin hyperextensibility, and musculoskeletal abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.535).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
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
COL14A1 · 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
Pelvic Organs Prolapse Treatment Using Neodymium Laser
ACTIVE NOT RECRUITINGDietary Supplementation With Blueberry in OA
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools