Literature summary for 1.14.16.1 extracted from

Leandro, P.; Rivera, I.; Lechner, M.C.; de Almeida, I.T.; Konecki, D.
The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase (2000), Mol. Genet. Metab., 69, 204-212.

Search for more literature for 1.14.16.1

Cloned(Commentary)

Cloned (Comment)	Organism
expression of His-tagged wild-type, I65T, R261Q and V388M mutant enzymes in Escherichia coli	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
I65T	22% of wild-type phenylalanine hydroxylase activity	Homo sapiens
R261Q	31% of wild-type phenylalanine hydroxylase activity	Homo sapiens
V388M	30% of wild-type phenylalanine hydroxylase activity	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
0.022	-	tetrahydrobiopterin	-	Homo sapiens
0.082	-	tetrahydrobiopterin	V388M mutant enzyme	Homo sapiens
0.09	-	6-methyltetrahydropterin	-	Homo sapiens
0.138	-	L-phenylalanine	cofactor tetrahydrobiopterin	Homo sapiens
0.393	-	L-phenylalanine	cofactor 6-methyltetrahydropterin	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Purification (Commentary)

Purification (Comment)	Organism
recombinant His-tagged wild-type, I65T, R261Q and V388M mutant enzymes, affinity chromatography	Homo sapiens

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg]	Specific Activity Maximum [µmol/min/mg]	Comment	Organism
0.055	-	I65T mutant enzyme, cofactor 6-methyltetrahydropterin	Homo sapiens
0.408	-	V388M mutant enzyme, cofactor tetrahydrobiopterin	Homo sapiens
0.536	-	R261Q mutant enzyme, cofactor tetrahydrobiopterin	Homo sapiens
0.745	-	V388M mutant enzyme, cofactor 6-methyltetrahydropterin	Homo sapiens
0.78	-	R261Q mutant enzyme, cofactor 6-methyltetrahydropterin	Homo sapiens
1.742	-	recombinant wild-type enzyme, cofactor tetrahydrobiopterin	Homo sapiens
2.49	-	recombinant wild-type enzyme, cofactor 6-methyltetrahydropterin	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)