Literature summary for 1.14.16.1 extracted from

Daniele, A.; Cardillo, G.; Pennino, C.; Carbone, M.T.; Scognamiglio, D.; Esposito, L.; Correra, A.; Castaldo, G.; Zagari, A.; Salvatore, F.
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants (2008), Biochim. Biophys. Acta, 1782, 378-384.

Search for more literature for 1.14.16.1

Cloned(Commentary)

Cloned (Comment)	Organism
DNA and amino acid sequence determination and analysis, genotyping, expression of mutant enzymes in HEK-193 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
F382L	naturally occuring mutation and site-directed mutagenesis, the mutant shows 44% reduced activity compared to the wild-type enzyme, analysis of structural alterations	Homo sapiens
K398K	naturally occuring mutation	Homo sapiens
K398N	naturally occuring mutation and site-directed mutagenesis, the mutant shows 45% reduced activity compared to the wild-type enzyme, analysis of structural alterations	Homo sapiens
additional information	hyperphenylalaninemia is a group of autosomal recessive disorders caused by a wide range of PAH gene variants, identification of 5 human variants in a Southern Italian population, genotyping, overview	Homo sapiens
N223Y	naturally occuring mutation and site-directed mutagenesis, the mutant shows 30% reduced activity compared to the wild-type enzyme, analysis of structural alterations	Homo sapiens
Q419R	naturally occuring mutation and site-directed mutagenesis, the mutant shows 29% reduced activity compared to the wild-type enzyme, analysis of structural alterations	Homo sapiens
R297C	naturally occuring mutation	Homo sapiens
R297H	naturally occuring mutation	Homo sapiens
R297L	naturally occuring mutation and site-directed mutagenesis, the mutant shows 58% reduced activity compared to the wild-type enzyme, analysis of structural alterations	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	hyperphenylalaninemia is a group of autosomal recessive disorders caused by a wide range of PAH gene variants	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P00439	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	hyperphenylalaninemia is a group of autosomal recessive disorders caused by a wide range of PAH gene variants	Homo sapiens	?	-	?

Synonyms

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

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Release 2023.1 (January 2023)