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Literature summary extracted from

  • Olarte-Avellaneda, S.; Rodriguez-Lopez, A.; Almeciga-Diaz, C.J.; Barrera, L.A.
    Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A (2014), Mol. Biol. Rep., 41, 7073-7088.
    View publication on PubMed

Crystallization (Commentary)

EC Number Crystallization (Comment) Organism
3.1.6.4 modeling of structure and molecular docking against galactose-6-sulfate, N-acetylgalactosamine-6-sulfate, keratan sulfate, chondroitin-6-sulfate, and the artificial substrate 4-methylumbelliferyl-beta-D-galactopyranoside-6-sulfate. Amino acids involved in ligand interaction correlate with those observed in other human sulfatases, and mutations within the active cavity reduce affinity of all evaluated ligands Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.1.6.4 A291D mutation associated with attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, , in wild-type, A291 has a hydrogen bond with K310 Homo sapiens
3.1.6.4 A291T mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking. In wild-type, A291 has a hydrogen bond with K310. Mutation A291T produces a new hydrogen bond with G301 Homo sapiens
3.1.6.4 C79Y mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 G168R mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 G290S mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 G301C mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 G309R mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 H142R mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 H166Q mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 H236D mutation associated with an attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, residue is involved in the ligand-enzyme interaction Homo sapiens
3.1.6.4 K310N mutation associated with attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, , residue is involved in enzyme-ligand interaction Homo sapiens
3.1.6.4 M318R mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 N289S mutation associated with an attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, , residue is involved in the ligand-enzyme interaction Homo sapiens
3.1.6.4 P77R mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens
3.1.6.4 S80L mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.1.6.4 Homo sapiens P34059
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