Application | Comment | Organism |
---|---|---|
medicine | metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
mutation expressed from allele are examined in heterologous BHK cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C500F | about 8% reduction of enzyme activity in comparison to wild-type enzyme | Homo sapiens |
C500F | about 8% reduction of enzyme activity in comparison to wild-type enzyme. Mutation found in a patient with metachromatic leukodystrophy | Homo sapiens |
E382Q | complete loss of enzyme activity in comparison to wild-type enzyme in vitro | Homo sapiens |
E382Q | complete loss of enzyme activity in comparison to wild-type enzyme in vitro. Mutation found in a patient with metachromatic leukodystrophy | Homo sapiens |
additional information | R288H, N350S and R496H are sequence alterations found in a patient with metachromatic leukodystrophy. W124ter mutation, which leads to a truncated enzyme and the mutations E382Q and C500F are found in an other patient. | Homo sapiens |
additional information | R288H, N350S and R496H are sequence alterations found in a patient with metachromatic leukodystrophy. W124ter mutation, which leads to a truncated enzyme and the mutations E382Q and C500F are found in an other patient | Homo sapiens |
N350S | about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro | Homo sapiens |
N350S | about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro, mutation found in a patient with metachromatic leukodystrophy | Homo sapiens |
R288H | about 40% reduction of enzyme activity in comparison to wild-type enzyme in vitro | Homo sapiens |
R288H | about 40% reduction of enzyme activity in comparison to wild-type enzyme in vitro, mutation found in a patient with metachromatic leukodystrophy | Homo sapiens |
R288H/R496H/N350S | about 38% reduction of enzyme activity in comparison to wild-type enzyme, no additive effect of the various amino acid substitutions is found in vitro | Homo sapiens |
R496H | about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro | Homo sapiens |
R496H | about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro, mutation found in a patient with metachromatic leukodystrophy | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme | Homo sapiens | ? | - |
? |