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Literature summary for 2.1.2.5 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
Search for more literature for 2.1.2.5

Protein Variants

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Sus scrofa
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