Figure 1

Localization of studied SNPs on a model structure of MMP9. The MMP-9 variations studied -N127K, D165N, Q279R, P574R, R668Q- are shown in context of MMP-9 3D structure. The reference residues have significant interactions with surrounding residues; therefore, it is likely that variations in these amino acids might disturb the protein stability and function. Residues N127, D165 are located in the catalytic domain (blue), Q279 is in the fibronectin type II domain (blue), and P574 and R668 are located in the hemopexin domain (green). The newly discovered variation F571V is shown in magenta. TIMP molecules, bound to the catalytic domain, are also depicted in the figure (red).