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Literature summary for 1.14.16.1 extracted from

  • Bik-Multanowski, M.; Pietrzyk, J.; Didycz, B.; Szymczakiewicz-Multanowska, A.
    Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: A potential for practical implementation (2008), Mol. Genet. Metab., 94, 389-390.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
R408W/I283F the mutant shows 2% residual activity compared to the wild type enzyme Homo sapiens
R408W/I306V the mutant shows 18% residual activity compared to the wild type enzyme Homo sapiens
R408W/P281L inactive Homo sapiens
R408W/pA403V the mutant shows 20% residual activity compared to the wild type enzyme Homo sapiens
R408W/R158Q the mutant shows 5% residual activity compared to the wild type enzyme Homo sapiens
R408W/R297H the mutant shows 15% residual activity compared to the wild type enzyme Homo sapiens
R408W/R408W inactive Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P00439
-
-

Synonyms

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