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Related Experiment Videos

PAHdb: a locus-specific knowledgebase.

C R Scriver1, P J Waters, C Sarkissian

  • 1Departments of Biology, Human Genetics, Medicine, and Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada. mc77@musica.mcgill.ca

Human Mutation
|December 29, 1999
PubMed
Summary
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PAHdb is a comprehensive online mutation database for the human phenylalanine hydroxylase gene (PAH), detailing associated hyperphenylalaninemia (HPA) and phenylketonuria (PKU) phenotypes. This curated knowledgebase provides valuable information for researchers and patients affected by these conditions.

Area of Science:

  • Genetics
  • Biochemistry
  • Medical Informatics

Background:

  • The human phenylalanine hydroxylase (PAH) gene is crucial for amino acid metabolism.
  • Mutations in the PAH gene lead to hyperphenylalaninemia (HPA) and phenylketonuria (PKU).
  • A centralized, curated resource is needed to consolidate information on PAH gene mutations and their associated phenotypes.

Purpose of the Study:

  • To establish PAHdb, an online locus-specific mutation database for the human PAH gene.
  • To integrate mutation data with phenotypic information (protein, metabolic, clinical) and population data.
  • To serve as a patient-friendly knowledgebase for individuals affected by HPA/PKU.

Main Methods:

  • Curated collection and annotation of PAH gene mutation data.

Related Experiment Videos

  • Integration of mutation information with phenotypic and population distribution data.
  • Development of an online relational database accessible via a web portal.

    • Main Results:

    • PAHdb serves as an annotated repository of PAH gene mutations and associated phenotypes.
    • The database includes information on protein, metabolic, and clinical manifestations of HPA/PKU.
    • PAHdb incorporates population distribution of alleles and haplotype associations.

    Conclusions:

    • PAHdb functions as a comprehensive knowledgebase for the human PAH gene and its related disorders.
    • The database supports research and clinical understanding of HPA/PKU.
    • PAHdb facilitates community interaction and provides accessible information for patients and families.