PAH-MUTATION-ANALYSIS-CONSORTIUM-DATABASE - 1997 - PROTOTYPE FOR RELATIONAL LOCUS-SPECIFIC MUTATION DATABASES

PAHdb (http://www.mcgill.ca/pahdb) is a curated relational database (F ig. 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 rema inder are polymorphic variants without apparent effect on phenotype, P AHdb modules contain mutations, polymorphic haplotypes, genotype-pheno type correlations, expression analysis, sources of information and the reference sequence; the database also contains pages of clinical info rmation and data on three ENU mouse orthologues of human HPA. Only six different mutations account for 60% of human HPA chromosomes worldwid e, mutations stratify by population and geographic region, and the Ori ental and Caucasian mutation sets are different (Fig. 3). PAHdb provid es curated electronic publication and one third of its incoming report s are direct submissions, Each different mutation receives a systemati c (nucleotide) name and a unique identifier (UID), Data are accessed b oth by a Newsletter and a search engine on the website; integrity of t he database is ensured by keeping the curated template offline. There have been >6500 online interrogations of the website.