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 |