Protein Variants | Comment | Organism |
---|---|---|
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 | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
serum | cord blood MASP-2 concentrations in a large, ethnically homogeneous cohort of neonates is investigated: Serum MASP-2 concentrations correlate with gestational age and birth weight and are significantly lower in premature babies and other pre-term babies compared with term babies. Neonates with MASP-2 concentrations below 42 ng/ml are deemed to be MASP-2 deficient. That group has a shorter mean gestational age and a higher incidence of premature and low birth weight babies, but not of perinatal infections when compared with the others. There is a trend towards higher MASP-2 concentrations amongst babies with infections | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
MASP-2 | - |
Homo sapiens |