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