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 | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | Homo sapiens | - |
L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Subunits | Comment | Organism |
---|---|---|
homotetramer | - |
Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | missense mutations of the enzyme are associated with the monogenic disease phenylketonuria | Homo sapiens |