Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.14.16.1 extracted from

  • Reblova, K.; Kulhanek, P.; Fajkusova, L.
    Computational study of missense mutations in phenylalanine hydroxylase (2015), J. Mol. Model., 21, 70 .
    View publication on PubMed
Search for more literature for 1.14.16.1

Protein Variants

Protein Variants Comment Organism
A300S the mutation is associated with phenylketonuria Homo sapiens
A403V the mutation is associated with phenylketonuria Homo sapiens
D338Y the mutation is associated with phenylketonuria Homo sapiens
E221G the mutation is associated with phenylketonuria Homo sapiens
E280K the mutation is associated with phenylketonuria Homo sapiens
E390G the mutation is associated with phenylketonuria Homo sapiens
I224T the mutation is associated with phenylketonuria Homo sapiens
I306V the mutation is associated with phenylketonuria Homo sapiens
L213P the mutation is associated with phenylketonuria Homo sapiens
L249F the mutation is associated with phenylketonuria Homo sapiens
L249P the mutation is associated with phenylketonuria Homo sapiens
L311P the mutation is associated with phenylketonuria Homo sapiens
L348V the mutation is associated with phenylketonuria Homo sapiens
P225T the mutation is associated with phenylketonuria Homo sapiens
P281L the mutation is associated with phenylketonuria Homo sapiens
P281S the mutation is associated with phenylketonuria Homo sapiens
R158Q the mutation is associated with phenylketonuria Homo sapiens
R158W the mutation is associated with phenylketonuria Homo sapiens
R241C the mutation is associated with phenylketonuria Homo sapiens
R241H the mutation is associated with phenylketonuria Homo sapiens
R243Q the mutation is associated with phenylketonuria Homo sapiens
R252W the mutation is associated with phenylketonuria Homo sapiens
R261Q the mutation is associated with phenylketonuria Homo sapiens
R270K the mutation is associated with phenylketonuria Homo sapiens
R408Q the mutation is associated with phenylketonuria Homo sapiens
R408W the mutation is associated with phenylketonuria Homo sapiens
R413P the mutation is associated with phenylketonuria Homo sapiens
S310F the mutation is associated with phenylketonuria Homo sapiens
S349A the mutation is associated with phenylketonuria Homo sapiens
S349P the mutation is associated with phenylketonuria Homo sapiens
V388M the mutation is associated with phenylketonuria Homo sapiens
Y204C the mutation is associated with phenylketonuria Homo sapiens
Y387H the mutation is associated with phenylketonuria Homo sapiens
Y414C the mutation is associated with phenylketonuria 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