AlphaFold predicted structure
MASP1 · P48740
Mean pLDDT
90.4/ 100
Very high
699 residues
Confidence breakdown
- Very high(≥ 90)79%
- Confident(70–90)14%
- Low(50–70)4%
- Very low(< 50)3%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
MASP1
Chr 3q27.3MBL associated serine protease 1
- Aliases:
- MASP, Map44, MASP-3, MAP-1
- MANE:
- ENST00000296280.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
Unknown
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Disease associations (Open Targets)
3MC syndrome 1
0.813MC syndrome
0.71hereditary disease
0.42COVID-19
0.38coronary atherosclerosis
0.33coronary artery disorder
0.33alcohol drinking
0.32Furuncle
0.25carbuncle
0.25stroke disorder
0.25
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Mannan-binding lectin serine protease 1
Precursor of a serum protease that activates the complement pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system