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PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases

P M Nowacki1, S Byck, L Prevost

  • 1The DeBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada.

Nucleic Acids Research
|February 21, 1998
PubMed
Summary
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PAHdb is a database of human PAH gene variations. It details mutations causing hyperphenylalaninemia (HPA) and their population-specific distribution worldwide.

Area of Science:

  • Human genetics
  • Biochemistry
  • Bioinformatics

Background:

  • The human PAH gene encodes phenylalanine hydroxylase, crucial for amino acid metabolism.
  • Mutations in the PAH gene cause hyperphenylalaninemia (HPA), a metabolic disorder.
  • Understanding PAH gene variation is key to diagnosing and managing HPA.

Purpose of the Study:

  • To present PAHdb, a curated relational database of human PAH cDNA nucleotide variations.
  • To catalog mutations, haplotypes, genotype-phenotype correlations, and expression data.
  • To provide a resource for researchers studying HPA and PAH gene function.

Main Methods:

  • Curated data collection from literature and direct submissions.
  • Systematic naming and unique identification (UID) for each mutation.

Related Experiment Videos

  • Database design including modules for mutations, haplotypes, genotype-phenotype data, and clinical information.

    • Main Results:

    • PAHdb contains 328 different mutations, with the majority causing HPA.
    • Six common mutations account for 60% of HPA chromosomes globally.
    • Mutation distribution varies significantly by population and geographic region.

    Conclusions:

    • PAHdb serves as a comprehensive resource for human PAH gene variation.
    • The database highlights population-specific mutation patterns in HPA.
    • PAHdb facilitates research into HPA pathogenesis and potential therapeutic strategies.