Literature summary for 1.14.16.1 extracted from

Shen, N.; Heintz, C.; Thiel, C.; Okun, J.G.; Hoffmann, G.F.; Blau, N.
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation (2016), Mol. Genet. Metab., 117, 328-335 .

Search for more literature for 1.14.16.1

Cloned(Commentary)

Cloned (Comment)	Organism
expressed in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A300S	the mutant shows 31% activity compared to the wild type enzyme	Homo sapiens
E178G	the mutant shows 39% activity compared to the wild type enzyme	Homo sapiens
E178G/Q232E	the mutant shows 55% activity compared to the wild type enzyme	Homo sapiens
E390G	the mutant shows 62% activity compared to the wild type enzyme	Homo sapiens
E390G/R261Q	the mutant shows 63% activity compared to the wild type enzyme	Homo sapiens
I65T	the mutant shows 33% activity compared to the wild type enzyme	Homo sapiens
I65T/R261Q	the mutant shows 19.5% activity compared to the wild type enzyme	Homo sapiens
I65T/R408W	the mutant shows 15% activity compared to the wild type enzyme	Homo sapiens
L48S	the mutant shows 39% activity compared to the wild type enzyme	Homo sapiens
L48S/R261Q	the mutant shows 35% activity compared to the wild type enzyme	Homo sapiens
P384S	the mutant shows 76% activity compared to the wild type enzyme	Homo sapiens
P384S/R408W	the mutant shows 56.1% activity compared to the wild type enzyme	Homo sapiens
Q232E	the mutant shows 42% activity compared to the wild type enzyme	Homo sapiens
R158Q	the mutant shows 10% activity compared to the wild type enzyme	Homo sapiens
R158Q/R261Q	the mutant shows 23% activity compared to the wild type enzyme	Homo sapiens
R261Q	the mutant shows 44% activity compared to the wild type enzyme	Homo sapiens
R408Q	the mutant shows 46% activity compared to the wild type enzyme	Homo sapiens
R408W	the mutant shows 2% activity compared to the wild type enzyme	Homo sapiens
R408W/A300S	the mutant shows 18% activity compared to the wild type enzyme	Homo sapiens
R408W/R158Q	the mutant shows 4% activity compared to the wild type enzyme	Homo sapiens
R408W/R261Q	the mutant shows 18% activity compared to the wild type enzyme	Homo sapiens
R408W/Y414C	the mutant shows 40% activity compared to the wild type enzyme	Homo sapiens
V245A	the mutant shows 50% activity compared to the wild type enzyme	Homo sapiens
V245A/R261Q	the mutant shows 55% activity compared to the wild type enzyme	Homo sapiens
Y414C	the mutant shows 57% activity compared to the wild type enzyme	Homo sapiens
Y414C/R261Q	the mutant shows 64% activity compared to the wild type enzyme	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
L-phenylalanine + tetrahydrobiopterin + O2	Homo sapiens	-	L-tyrosine + 4a-hydroxytetrahydrobiopterin	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P00439	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
L-phenylalanine + tetrahydrobiopterin + O2	-	Homo sapiens	L-tyrosine + 4a-hydroxytetrahydrobiopterin	-	?

Synonyms

Synonyms	Comment	Organism
PAH	-	Homo sapiens
phenylalanine hydroxylase	-	Homo sapiens