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Table 2 Correlation of the effect of substitution mutations on protein folding and the observed phenotypic expression in β-mannosidosis. AS: Active site

From: A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation

Species Mutated residue Structural location Effect on structure Effect on phenotype
Human R182W Away from AS Minor perturbation Mild
Human G392E Close to AS Disrupts the ligand binding site Moderate
Human S505P Close to AS (direct interaction with AS) Disturbs the catalytic nucleophile (E457) Severe
Human R641H Away from AS Destabilizes the fold Moderate