Protein Variants | Comment | Organism |
---|---|---|
G304V | decrease in enzymatic activity | Homo sapiens |
M1K | decrease in enzymatic activity | Homo sapiens |
R234C | decrease in enzymatic activity | Homo sapiens |
R533X | no enzymatic activity | Homo sapiens |
R565W | decrease in enzymatic activity | Homo sapiens |
R643C | decrease in enzymatic activity | Homo sapiens |
S522P | decrease in enzymatic activity | Homo sapiens |
W147X | no enzymatic activity | Homo sapiens |
W168X | decrease in enzymatic activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
peripheral blood | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
0.15-0.483 mmol/min/mg no mutation | Homo sapiens |
- |
- |
mutant with genotype R234C/G304V | Homo sapiens |
- |
- |
mutant with genotype R533X/R533X | Homo sapiens |
- |
- |
mutant with genotype W147X/W147X | Homo sapiens |
0.001 | - |
mutant with genotype W168X/S522P | Homo sapiens |
0.00117 | - |
mutant with genotype R643C/R533X | Homo sapiens |
0.0017 | - |
mutant with genotype R234C/R234C | Homo sapiens |
0.0025 | - |
mutant with genotype R234C/R234C | Homo sapiens |
0.0027 | - |
mutant with genotype R234C/M1K | Homo sapiens |
0.003 | - |
mutant with genotype R565W/R565W | Homo sapiens |
0.00317 | - |
mutant with genotype R565W/R565W | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
alpha-N-acetylglucosaminidase | - |
Homo sapiens |
glycosidase | - |
Homo sapiens |
NAGLU | - |
Homo sapiens |