EC Number   |
Protein Variants |
Reference |
|---|
   3.4.21.104 | C1s(MASP-2CCP1/2) |
hybrid C1s/MASP-2 molecule, swapped complement control protein, 21-27fold higher kcat/Km-ratio for complement C4 than C1s(MASP-2SP) |
665686 |
| 3.4.21.104 | C1s(MASP-2SP) |
hybrid C1s/MASP-2 molecule, swapped serine protease, 21-27fold lower kcat/Km-ratio for complement C4 than C1s(MASP-2CCP1/2) |
665686 |
| 3.4.21.104 | D105G |
inactive, MASP-2 deficiency, the index case suffers from recurrent severe infections and autoimmune reactions |
666927 |
| 3.4.21.104 | D105G |
incapable of forming a complex with mannan-binding lectin, found in 1.44% of studied Spaniards, 2% of studied North Africans, not found in Sub-Saharans |
666963 |
| 3.4.21.104 | D105G |
it is investigated whether partial or total MASP-2 deficiencies resulting from D105G mutation are associated with rheumatic fever and chronic rheumatic heart disease: 148 patients are analyzed with a history of rheumatic fever, including 106 with chronic rheumatic heart and 42 without cardiac sequelae, and 129 control subjects. The D105G mutation is detected in four patients with chronic rheumatic heart and in five control subjects , all in the heterozygous state. None of the patients without cardiac sequelae has the mutation. No significant difference is found in the frequency of the mutant allele between the groups. D105G mutation in the MASP2 gene does not play a major role in the pathogenesis of rheumatic fever |
698175 |
| 3.4.21.104 | D105G |
the mutation causes impaired binding to mannan-binding lectin and low circulating plasma levels of MASP-2 |
708201 |
| 3.4.21.104 | D120G |
among 362 samples tested for the D120G single nucleotide polymorphism of the MASP2 gene, no homozygote for that mutation is found. Heterozygosity for this allele significantly influences the protein concentration, but not the lectin pathway of complement activity (MBL-MASP-2 complex activity). No association of this single nucleotide polymorphism is apparent with prematurity, low birth weight or perinatal infections |
700247 |
| 3.4.21.104 | D120G |
when D120G is mixed with mannan-binding lectin, no activation of complement component C4 is observed |
709344 |
| 3.4.21.104 | H155R |
the mutant cleaves complement component C4 slightly better than the wild type MASP-2 |
709344 |
| 3.4.21.104 | MASP-2 CCP1-CCP2-SP R444Q |
lower KM-value for complement C4 |
665655 |
