Fig. 1
From: Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
a Overview of MASP1 mutations. Exons and introns are indicated by circles with numbers and thin lines, respectively. The localization of mutations identified in this study is shown with blue arrows; those reported by Sirmaci et al.[3] and Rooryck et al. [4] are shown with red arrows; b Overview of the resulting protein structures of the three mRNA sequences produced from MASP1. In protein domains of these different transcripts, the blue arrows and red arrows show the mutations presented in this study and reported previously, respectively [3, 4]