Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E286A
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PAH

NM_000277.3:p.E286A

Associated Papers

Catalytic residues and a predicted structure of tetrahydrobiopterin-dependent alkylglycerol mono-oxygenase.

Watschinger K et al.

The Biochemical Journal, 2012

22220568 (PubMed )
Supplement: bj4430279add.pdf

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.

Jennings IG et al.

European Journal of Human Genetics : Ejhg, 2000

The structural basis of the recognition of phenylalanine and pterin cofactors by phenylalanine hydroxylase: implications for the catalytic mechanism.

Teigen K et al.

Journal of Molecular Biology, 1999

Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.

Bjørgo E et al.

European Journal of Biochemistry, 1998

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

Waters PJ et al.

Human Mutation, 1998

Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function.

Dickson PW et al.

The Journal of Biological Chemistry, 1994

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."