Literature summary for 1.14.16.1 extracted from

Pey, A.L.; Martinez, A.
The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study (2005), Mol. Genet. Metab., 86, S43-53.

Protein Variants

Protein Variants	Comment	Organism
additional information	mutant p.R68S, reduced apparent and equilibrium binding affinity for tetrahydrobiopterin, increased affinity and non-cooperative response for L-phenylalanine, strong substrate inhibition	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)