AlphaFold predicted structure
COL13A1 · Q5TAT6
Mean pLDDT
55.6/ 100
Low
717 residues
Confidence breakdown
- Very high(≥ 90)2%
- Confident(70–90)11%
- Low(50–70)56%
- Very low(< 50)31%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
COL13A1
Chr 10q22.1collagen type XIII alpha 1 chain
- MANE:
- ENST00000645393.2
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalCongenital myopathy
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Congenital myasthenic syndromes
0.75Postsynaptic congenital myasthenic syndromes
0.39Presynaptic congenital myasthenic syndromes
0.39postsynaptic congenital myasthenic syndrome
0.38congenital myasthenic syndrome
0.38presynaptic congenital myasthenic syndrome
0.38placenta praevia
0.37type 2 diabetes mellitus
0.37protozoa infectious disease
0.32systemic lupus erythematosus
0.31
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Collagen alpha-1(XIII) chain
Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625)
Diseases associated with COL13A1
Curated MONDO disease pages that list COL13A1 among their top associated genes.