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MASP1

Synonyms
3MC1, CRARF, CRARF1, MAP-1, MAP1, MASP, MASP-3, MASP3, MAp44, PRSS5, RaRF
External resources
Summary
This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
10
Likely pathogenic
2
VUS
2,668
Likely benign
1,476
Benign
37

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on MASP1 gene are displayed below. The following symptoms were found in patients with a variant in MASP1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
41.7%
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
16.7%
Abnormality of head or neck
8.3%
Abnormality of the cardiovascular system
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the integument
8.3%
Abnormality of the respiratory system
8.3%
Growth abnormality
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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