Structural mutations in exon 1 of the human MBL2 gene, at codon 52 (Arg to Cys, allele D), codon 54 (Gly to Asp, allele B) and codon 57 (Gly to Glu, allele C), also independently reduce the level of functional serum MBL by disrupting the collagenous structure of the protein.
As mutacións estruturais no exón 1 do xene MBL2 humano, no codón 52 (de Arg a Cys, alelo D), codón 54 (de Gly a Asp, alelo B) e o codón 57 (de Gly a Glu, alelo C), tamén independentemente reducen o nivel de MBL sérica funcional ao alterar a estrutura tipo coláxeno da proteína.