Cloned (Comment) | Organism |
---|---|
gene pah, DNA and amino acid sequence determination and analysis, genotyping, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D415N | naturally occuring missense mutation causing a mild phenylketonuria phenotype | Homo sapiens |
H271Q | naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype | Homo sapiens |
I174V | naturally occuring missense mutation causing a mild phenylketonuria phenotype | Homo sapiens |
I95F | naturally occuring missense mutation causing a mild phenylketonuria phenotype | Homo sapiens |
L197F | naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype | Homo sapiens |
additional information | determination of mutations in gene pah in patients with phenylketonuria, screening and genotyping, genotype-phenotype correlation in the different ethnic groups of Israel, responsiveness of mutants to tetrahydrobiopterin treatment, overview | Homo sapiens |
P225T | naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype | Homo sapiens |
P281L | naturally occuring missense mutation causing a severe phenylketonuria phenotype | Homo sapiens |
R158Q | naturally occuring missense mutation causing a severe phenylketonuria phenotype | Homo sapiens |
R252W | naturally occuring missense mutation causing a severe phenylketonuria phenotype | Homo sapiens |
R261P | naturally occuring missense mutation causing a mild phenylketonuria phenotype | Homo sapiens |
R261Q | naturally occuring missense mutation causing a severe phenylketonuria phenotype | Homo sapiens |
S349P | naturally occuring missense mutation causing a severe phenylketonuria phenotype | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | Homo sapiens | enzyme mutations can lead to phenylketonuria, overview | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? | |
L-phenylalanine + tetrahydrobiopterin + O2 | enzyme mutations can lead to phenylketonuria, overview | Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
tetrahydrobiopterin | - |
Homo sapiens |