Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T427P
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PAH

NM_000277.3:p.T427P

Associated Papers

Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.

Leandro J et al.

Biochimica Et Biophysica Acta, 2011

Probing the role of crystallographically defined/predicted hinge-bending regions in the substrate-induced global conformational transition and catalytic activation of human phenylalanine hydroxylase by single-site mutagenesis.

Stokka AJ et al.

The Journal of Biological Chemistry, 2004

Activation of phenylalanine hydroxylase: effect of substitutions at Arg68 and Cys237.

Thórólfsson M et al.

Biochemistry, 2003

A comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427-->Pro mutant human phenylalanine hydroxylase: contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperative substrate binding.

Bjørgo E et al.

European Journal of Biochemistry, 2001

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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."