Databases
General Information
PAHvdb : Phenylalanine Hydroxylase Gene Locus-Specific Database
PAH Gene Card (The Human Gene Compedium)
|
[ CLOSED FOR MAINTENANCE ]
Current number of PAH variants (as of February 27, 2025) 3'457 |
|
Downloadable Documents/LinksPAH cDNA sequence (compiled by S. Byck, P.P.Nowacki, M.Caccione, McGill) 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/). |