Literature summary for 1.14.16.1 extracted from

Lueleyap, H.U.; Alptekin, D.; Pazarba?i, A.; Kasap, M.; Kasap, H.; Demirhindi, H.; Mungan, N.; Ozer, G.; Froster, U.G.
The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene (2006), Mutat. Res., 601, 39-45.

Search for more literature for 1.14.16.1

Cloned(Commentary)

Cloned (Comment)	Organism
DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, overview	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
E178G	exon 6 A533G mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis	Homo sapiens
additional information	arginine mutations are important for the evolutionary structure and function of the phenylalanine hydroxylase gene, phenylketonuria patients from the Cukurova region in Turkey show in 50% of investigated alleles the IvsVS10-11g splicing mutation, overview	Homo sapiens
P281L	exon 7 C842T mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis	Homo sapiens
R243Q	exon 7 G728A mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis	Homo sapiens
R243X	exon 6 C727T mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis	Homo sapiens
R261Q	exon 7 G728A mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis, second most found mutation within 23 patients	Homo sapiens
R408W	exon 12 C1222T mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis	Homo sapiens
Y386C	exon 11 A1157G mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P00439	-	-

Synonyms

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

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Release 2023.1 (January 2023)