PAHdb: A locus-specific knowledgebase

PAHdb is an online relational locus specific "mutation database" (http://ww w.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbolPAH) and its associated phenotypes (protein, metabolic, clinical). When combine d with associated information (population distribution of allele, haplotype association, etc.) PAHdb functions as a knowledgebase. From the outset, an d in the absence of raw data (e.g., sequence gels), PAHdb has instead been an annotated repository of information about mutations maintained by a team of curators. It is also disease oriented, being focused on a variant pheno type (hyperphenylalaninemia (HPA) and its most important form of disease, p henylketonuria (PKU)) resulting from primary dysfunction of the PAH enzyme (EC 1.14.16.1); it is "patient friendly" in that it contains information fo r those personally involved with HPA/PKU (MIM# 261600). PAHdb also serves i ts community through direct interaction. Hum Mutat 15:99-104, 2000. (C) 200 0 Wiley-Liss, Inc.