PAHdb: a locus-specific knowledgebase.

Abstract

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.

• Authors: C R Scriver, P J Waters, C Sarkissian, S Ryan, L Prevost, D Côté, J Novak, S Teebi, P M Nowacki
• Journal: Human mutation (Hum Mutat) Vol. 15 Issue 1 Pg. 99-104 ( 2000) ISSN: 1059-7794 [Print] United States
• PMID: 10612829 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Chemical References

• Phenylalanine Hydroxylase

Topics

• Alleles
• Animals
• Artificial Intelligence
• Chromosome Mapping
• Databases, Factual
• Gene Expression
• Genetics, Population
• Humans
• Internet
• Mice
• Models, Molecular
• Phenotype
• Phenylalanine Hydroxylase (genetics)