PAHdb: A locus-specific knowledgebase

• Published in: Human mutation Vol. 15; no. 1; pp. 99 - 104
• Main Authors: Scriver, Charles R., Waters, Paula J., Sarkissian, Christineh, Ryan, Shannon, Prevost, Lynne, Côté, David, Novak, Jaroslav, Teebi, Saeed, Nowacki, Piotr M.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01-01-2000; Hindawi Limited
• Subjects: Alleles; Animals; Artificial Intelligence; Chromosome Mapping; Databases, Factual; Gene Expression; Genetics, Population; Humans; hyperphenylalaninemia; Internet; MDI; Mice; Models, Molecular; mutation database; PAH; PAH gene; Phenotype; phenylalanine hydroxylase; Phenylalanine Hydroxylase - genetics; PKU
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

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. Hum Mutat 15:99–104, 2000. © 2000 Wiley‐Liss, Inc.