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Literature summary for 2.4.2.8 extracted from

  • Larovere, L.E.; ONeill, J.P.; Randall, M.; Fairbanks, L.D.; Guelbert, N.; Czornyj, L.; de Kremer, R.D.
    Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients (2007), Nucleosides Nucleotides Nucleic Acids, 26, 255-258.
    View publication on PubMed
Search for more literature for 2.4.2.8

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Synonyms

Synonyms Comment Organism
hypoxanthine-guanine phosphoribosyltransferase
-
 Homo sapiens