Protein Variants | Comment | Organism |
---|---|---|
G70E | naturally occuring mutation in an Argentine individual, the patient shows the HRND phenotype, determination of the altered urine purine alkaloid metabolite contents | Homo sapiens |
L68P | naturally occuring mutation in an Argentine individual, the patient shows the LND phenotype, determination of the altered urine purine alkaloid metabolite contents | Homo sapiens |
L68R | naturally occuring mutation in an Argentine individual, the patient shows the LND phenotype, determination of the altered urine purine alkaloid metabolite contents | Homo sapiens |
R48H | naturally occuring mutation in an Argentine individual, the patient shows the HRND phenotype, determination of the altered urine purine alkaloid metabolite contents | Homo sapiens |
Y195C | naturally occuring mutation in an Argentine individual, the patient shows the HRND phenotype, determination of the altered urine purine alkaloid metabolite contents | Homo sapiens |
Y195S | naturally occuring mutation in an Argentine individual, the patient shows the HRND phenotype, determination of the altered urine purine alkaloid metabolite contents | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
hypoxanthine-guanine phosphoribosyltransferase | - |
Homo sapiens |