AlphaFold predicted structure
MYL1 · P05976
Mean pLDDT
87.9/ 100
Confident
194 residues
Confidence breakdown
- Very high(≥ 90)75%
- Confident(70–90)6%
- Low(50–70)19%
- Very low(< 50)1%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MYL1
Chr 2q34myosin light chain 1
- Aliases:
- MLC1, MLC1F, MLC3F, MLC-1, MLC1/3
- MANE:
- ENST00000352451.4
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital fiber-type disproportion myopathy
0.49response to stimulus
0.10adverse effect
0.10head and neck squamous cell carcinoma
0.08neoplasm
0.08rheumatoid arthritis
0.07rhabdomyosarcoma
0.04congenital myopathy with cores
0.04congenital myopathy
0.04oral cavity squamous cell carcinoma
0.04
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Myosin light chain 1/3, skeletal muscle isoform
Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function