MDI Special Article

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PAHdb: A locus-specific knowledgebase

  1. Charles R. Scriver*,
  2. Paula J. Waters,
  3. Christineh Sarkissian,
  4. Shannon Ryan,
  5. Lynne Prevost,
  6. David Côté,
  7. Jaroslav Novak,
  8. Saeed Teebi,
  9. Piotr M. Nowacki

Article first published online: 27 DEC 1999

DOI: 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

Issue

Human Mutation

Human Mutation

Special Issue: The HUGO Mutation Database Initiative: Issues, Databases, and Perspectives for the New Millennium

Volume 15, Issue 1, pages 99–104, January 2000

Additional Information

How to Cite

Scriver, C. R., Waters, P. J., Sarkissian, C., Ryan, S., Prevost, L., Côté, D., Novak, J., Teebi, S. and Nowacki, P. M. (2000), PAHdb: A locus-specific knowledgebase. Human Mutation, 15: 99–104. doi: 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

Author Information

  1. Departments of Biology, Human Genetics, Medicine, and Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada

*DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3

Publication History

  1. Issue published online: 27 DEC 1999
  2. Article first published online: 27 DEC 1999
  3. Manuscript Accepted: 4 OCT 1999
  4. Manuscript Received: 3 AUG 1999

Funded by

  • HUGO Mutation Database Initiative
  • Medical Research Council of Canada
  • Canadian Genetics Diseases Network (Canadian Centres of Excellence Program)
  • Le Réseau de médecine génétique appliquée, (Le Fonds de la recherches en santé du Québec)
  • Robert MacDonald Gift for Bioinformatics

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Keywords:

  • PAH;
  • PKU;
  • mutation database;
  • MDI

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

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