Fig. 3

MMP13 protein structure and its 3 different domains: binding, catalytic and hemopexin-like. a The numbers correspond to the different exons. Known pathogenic variants are drawn in their location in the protein, according to inheritance pattern. There are 7 missense variants, including the one described in this paper and 1 nonsense variant. b A schematic diagram of MMP13 3D protein structure, the 5 pathogenic variants leading to MAD type 1 are between aa 71 and 75, in the binding domain. Model done with The Phyre2 web portal [20], representation done with Chimera [21].