THE PAH MUTATION ANALYSIS CONSORTIUM DATABASE - UPDATE 1996

A website (http://www.mcgill.ca/pahdb) is maintained by the curators f or a Consortium (88 investigators, 28 countries) and all other users; it serves a relational database for human locus-specific genetic varia tion in a defined DNA sequence (GenBank U49897); (100 kb on human chro mosome 12q24.1, gene symbol PAH), The intragenic nucleotide variation is both (Q < 0.01), extensive (>320 different mutations) phenotype mod ifying, causing hyperphenylalaninemia by impairing phenylalanine hydro xylase function (see OMIM 261600), as well as polymorphic and neutral, the latter providing informative locus-specific haplotypes (>1200 dif ferent mutation/haplotye associations). The PAH database contains both offline core components (mutations, population associations and data source information) and several accessory online components: (i) relat ive frequencies of mutations by populations/regions (expanding file); (ii) data on genotype-phenotype correlations both in vitro and in vivo (new file); (iii) polymorphic haplotype structures (new file); (iv) i ntron sequence data (new file for design of primers); (v) description of mouse homologues (new file for mutations and phenotypes); (vi) the predicted PAH gene mutability profile (improved graphic); (vii) a clin ical field for patient use (new interface with database), The website home page has been revised and a counter is recording >15 visits per d ay, Linkages to other mutation databases and an alliance of mutation d atabase curators (new) are expanding, The primary 'electronic publicat ion' reports now vastly exceed print reports, PAHdb serves as a protot ype for obtaining, storing and distributing records of human genetic v ariation.