Protein Variants | Comment | Organism |
---|---|---|
L147F | natural occuring point mutation leading to enzyme deficiency, which is not correlated with a physiological syndrome | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
erythrocyte | of a mentally retarded child and its family members, partial enzyme deficiency | Homo sapiens | - |
Storage Stability | Organism |
---|---|
-80°C, mutant and wild-type enzyme, stable up to 3 years | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
guanine + 5-phospho-alpha-D-ribose 1-diphosphate | - |
Homo sapiens | GMP + diphosphate | - |
? | |
hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate | - |
Homo sapiens | IMP + diphosphate | - |
? | |
additional information | a mentally retarded child and its asymptomatic uncle have a partial enzyme deficiency, homozygous, while mother and grandmother are heterozygous and not enzyme-deficient | Homo sapiens | ? | - |
? |
Temperature Stability Minimum [°C] | Temperature Stability Maximum [°C] | Comment | Organism |
---|---|---|---|
60 | - |
mutant and wild-type enzyme, 8 min, stable | Homo sapiens |