Figure 1.
Schematic presentation of the MASP1 gene and transcripts.
A While the size of exons and the promoter region are drawn to scale the introns are truncated. The MES region indicates the region where the mutually exclusive splicing takes place that generates the three proteins. All SNPs investigated in this report are marked as either a non-synonymous mutation or not. Grey boxes indicated translated part of the exons. B The primary transcript can be spliced to three different mRNAs coding for MASP-1, MASP-3, and MAp44. C MASP-1 and -3 share five domains encoded by exons 1–8, 10 and 11 (the A-chain). CUB = C1r/C1s, Uegf, Bmp1; EGF = epidermal growth factor and CCP = complement control protein. They have unique serine protease domains (B-chains), encoded by exon 12 (MASP-3) and exons 13–18 (MASP-1). MAp44 shares the first four domains with MASP-1 and MASP-3, followed by a unique C-terminal, encoded by exon 9.
Figure 2.
The relationship between age, gender, and MASP-3 concentration.
X = female, O = male. The dashed line indicated the best fitted line for females and the solid line for males.
Figure 3.
Graphical presentation of the effect of genotypes on MASP-1, MASP-3, and MAp44 concentrations.
Each individual is marked with a circle. The box indicates median and inter quartile values. The rs-numbers of the SNPs depicted are given below each graph.
Figure 4.
Linkage disequilibrium plot of the polymorphisms investigated in the MASP1 gene.
Numbers in squares are R2-values in percent and empty squares indicates R2-values <1%. D’ and LOD scores are indicated by a color code.
Figure 5.
Explained and unexplained variation in the three MASP1 proteins.
The pie charts depict the total amount of variation explained of the three protein concentrations as a result of a multiple regression analysis. “SNPs” represents the total variation of the 15 SNPs investigated.