title: PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
abstract: PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorphic variants without apparent effect on phenotype. PAHdb modules contain mutations, polymorphic haplotypes, genotype-phenotype correlations, expression analysis, sources of information and the reference sequence; the database also contains pages of clinical information and data on three ENU mouse orthologues of human HPA. Only six different mutations account for 60% of human HPA chromosomes worldwide, mutations stratify by population and geographic region, and the Oriental and Caucasian mutation sets are different (Fig. 3). PAHdb provides curated electronic publication and one third of its incoming reports are direct submissions. Each different mutation receives a systematic (nucleotide) name and a unique identifier (UID). Data are accessed both by a Newsletter and a search engine on the website; integrity of the database is ensured by keeping the curated template offline. There have been >6500 online interrogations of the website.
authors.affiliation: The DeBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada.
authors.forename: P M
authors.initials: PM
authors.lastname: Nowacki
authors.forename: S
authors.initials: S
authors.lastname: Byck
authors.forename: L
authors.initials: L
authors.lastname: Prevost
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D003195:Computer Communication Networks; D016208:Databases, Factual; D006801:Humans; D016247:Information Storage and Retrieval; D051379:Mice; D008958:Models, Molecular; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D011110:Polymorphism, Genetic; D012984:Software
chemical_list: D010651:Phenylalanine Hydroxylase