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Literature summary for 1.14.16.1 extracted from

  • Shi, Z.; Sellers, J.; Moult, J.
    Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase (2012), Proteins, 80, 61-70.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
A104D the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to mild phenyletonuria Homo sapiens
A259T the mutant with wild type activity exhibits less than 50% of wild type protein level Homo sapiens
A259V the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
A309V the mutant shows 70% of wild type activity Homo sapiens
A322G the mutant shows 75% of wild type activity Homo sapiens
A403V the mutant shows wild type activity Homo sapiens
A403V the mutation leads to mild phenyletonuria Homo sapiens
E280K inactive Homo sapiens
E280K the mutant shows 2% of wild type activity Homo sapiens
E76G the mutant shows 85% of wild type activity Homo sapiens
E76G the mutant shows 65% of wild type activity Homo sapiens
F161S the mutant with wild type activity exhibits less than 50% of wild type protein level Homo sapiens
F39L the mutant has approximately 3fold higher specific activity than the wild type enzyme and leads to moderate phenyletonuria Homo sapiens
G218V the mutant shows wild type activity Homo sapiens
G247V the mutant shows 4% of wild type activity Homo sapiens
G46S the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
I65T the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to moderate phenyletonuria Homo sapiens
K42I the mutant shows 12% of wild type activity Homo sapiens
L255S the mutant shows 3% of wild type activity Homo sapiens
L255V the mutant shows 13% of wild type activity Homo sapiens
L311P the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
L348V the mutant shows 38% of wild type activity Homo sapiens
L41F the mutant shows 10% of wild type activity Homo sapiens
L48S the mutant has approximately 3fold higher specific activity than the wild type enzyme and leads to moderate phenyletonuria Homo sapiens
P122Q the mutant with wild type activity exhibits less than 50% of wild type protein level Homo sapiens
P244L the mutant shows 68% of wild type activity Homo sapiens
P281L inactive Homo sapiens
R157N the mutant with wild type activity exhibits less than 50% of wild type protein level Homo sapiens
R158Q the mutation leads to mild phenyletonuria Homo sapiens
R243Q the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
R252G the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
R252Q the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
R252W the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
R261Q the mutation leads to 29% of wild type activity and moderate phenyletonuria Homo sapiens
R270S the mutant shows 3% of wild type activity Homo sapiens
R408Q the mutant shows 84% of wild type activity Homo sapiens
R408W the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria Homo sapiens
R413P the mutant shows 3% of wild type activity Homo sapiens
R68G the mutant shows wild type activity Homo sapiens
R68S the mutant shows 98% of wild type activity Homo sapiens
S349L inactive Homo sapiens
S349P inactive Homo sapiens
S349P the mutant shows 1% of wild type activity Homo sapiens
Y277D inactive Homo sapiens
Y414C the mutation leads to 1% of wild type activity and classic phenyletonuria 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
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Subunits

Subunits Comment Organism
homotetramer
-
Homo sapiens

Synonyms

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

General Information

General Information Comment Organism
malfunction missense mutations of the enzyme are associated with the monogenic disease phenylketonuria Homo sapiens