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Table 2 Correlation of the effect of substitution mutations on folding and observed disease phenotype. Mutations leading to severe phenotypes are highlighted in bold font. AS: Active site

From: A multi-species comparative structural bioinformatics analysis of inherited mutations in α-D-Mannosidase reveals strong genotype-phenotype correlation

S. No Species Mutated residues Structural location Effect on Structure Phenotypic
effect
1. Human H72L[25] In AS Disrupts AS Lethal
(Type 3)
   H200N [24], T355P [25],
P356R [25, 27],
E402K[25], S453Y[26]
Close to AS Destabilizes the fold Harmful
(Type 2)
   W714R [25], R750W [25, 27],
G801D [28], L809P [25]
Away from AS Minor
perturbation
Mild
or Viable
(Type 1)
2. Bovine R220H[21] In AS Disrupts AS Lethal
(Type 3)
   F320L[21] Close to AS Destabilizes the fold Harmful
(Type 2)
3. Guinea pig R227W[29] Close to AS Destabilizes the fold Harmful
(Type 2)