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PAH Gene Card (The Human Gene Compedium)
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[ CLOSED FOR MAINTENANCE ]
Current number of PAH variants (as of March 29, 2024) 3,370 |
DATABASE MANAGERNenad Blau, Zurich, Switzerland
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Downloadable Documents/LinksPAH cDNA sequence (compiled by S. Byck, P.P.Nowacki, M.Caccione, McGill) Structures of human and mouse PAH (W. Yue group) PAH subunit and variants PAH genomic structure and variants Frequency of variants in the phenylalanine hydroxylase gene (PAH) PAH variants activity in cell lysates (in vitro expression) Allelic Phenotype Values (APV) and Phenotype Association of PAH Variations
The reference accession number for the PAH sequence is ENSG00000171759; NC_000012.12(NM_000277.2). All variants were checked with Mutalyzer 2.0.beta-27 (https://mutalyzer.nl/check). Sequence variants are compliant with the HGVS rules (http://www.hgvs.org/mutnomen/). |
