Fig. 1

Mapping of missense PMM2 variants. Only one subunit (A) of PMM2 structure is represented. The core and cap domains are coloured blue and orange, respectively. The catalytical Mg2+ and the structural Mg2+ are coloured, respectively, tan and green. The activator (G16BP) is represented in Van der waals, in a semi-diffuse grey representation. Linker- 1 and linker- 2 are coloured, respectively, magenta and silver. The positions of mutated residues in PMM2-CDG are represented as beads and coloured by their potential mechanism of impact on protein function [12]. Accordingly, variants that are predicted to impact the folding of the cap and core domains are coloured mauve and cyan, respectively. Variants that could affect the linker- 2 are represented in grey, and variants that could disrupt the binding of the activator to the protein are coloured red. Variants that could disrupt the dimerization are coloured yellow. Finally, variants with an uncertain predicted mechanism of impact in PMM2 function are coloured white