PAHdb: A locus-specific knowledgebase

✍ Scribed by Charles R. Scriver; Paula J. Waters; Christineh Sarkissian; Shannon Ryan; Lynne Prevost; David Côté; Jaroslav Novak; Saeed Teebi; Piotr M. Nowacki

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 221 KB
• Volume: 15
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(200001)15:1<99::aid-humu18>3.0.co;2-p

✦ Synopsis

PAHdb is an online relational locus-specific "mutation database" (http://www.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbol PAH) and its associated phenotypes (protein, metabolic, clinical). When combined with associated information (population distribution of allele, haplotype association, etc.) PAHdb functions as a knowledgebase. From the outset, and 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 phenotype (hyperphenylalaninemia (HPA) and its most important form of disease, phenylketonuria (PKU)) resulting from primary dysfunction of the PAH enzyme (EC 1.14.16.1); it is "patient friendly" in that it contains information for those personally involved with HPA/PKU (MIM# 261600). PAHdb also serves its community through direct interaction.