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Literature summary extracted from

  • Hilton, J.F.; Christensen, K.E.; Watkins, D.; Raby, B.A.; Renaud, Y.; de la Luna, S.; Estivill, X.; MacKenzie, R.E.; Hudson, T.J.; Rosenblatt, D.S.
    The molecular basis of glutamate formiminotransferase deficiency (2003), Hum. Mutat., 22, 67-73.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.1.2.5 R135C mutation analogous to mutant found in patient with glutamate formiminotransferase deficiency, reduction of enzyme activity to 61% of wild-type Sus scrofa
2.1.2.5 R135C mutation naturally occuring in patient with mild form of putative glutamate formiminotransferase deficiency Homo sapiens
2.1.2.5 R299P mutation analogous to mutant found in patient with glutamate formiminotransferase deficiency, reduction of enzyme activity to 57% of wild-type Sus scrofa
2.1.2.5 R299P mutation naturally occuring in patient with mild form of putative glutamate formiminotransferase deficiency Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.1.2.5 Homo sapiens
-
-
-
2.1.2.5 Sus scrofa
-
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