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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Fig. 2

Energy changes of missense mutations in GMPPB. a Histogram of calculated free energy changes (ΔΔG) due to missense mutations in GMPPB. Orange-, gray- and green-shaded bars indicate mutated residues falling in the N-terminal catalytic domain, inter-domains and C-terminal LbH domain, respectively. b The ΔΔG distributions of GMPPB missense mutations. The ΔΔG values of mutations were presented in histograms, using 3 kcal/mol bins (the single mutation with ΔΔG = 13.7 kcal/mol was classified into the > 10 kcal/mol bin) and the distribution was fitted to a Gaussian function. c Histogram of the number of mutations (%) plotted against the predicted effect of mutations on GMPPB stability

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