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The Human PAX6 Mutation Database

A Brown1, M McKie, V van Heyningen

  • 1Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK. alastair.brown@hgu.mrc.ac.uk

Nucleic Acids Research
|February 21, 1998
PubMed
Summary
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The Human PAX6 Mutation Database catalogs 94 PAX6 gene mutations, offering a web-accessible platform for submission and querying. This resource aids researchers in understanding PAX6 gene variations and their implications.

Area of Science:

  • Genetics
  • Bioinformatics

Background:

  • The PAX6 gene is crucial for ocular and central nervous system development.
  • Understanding PAX6 mutations is vital for diagnosing and researching associated developmental disorders.
  • Centralized, accessible mutation data is essential for genetic research.

Purpose of the Study:

  • To establish and maintain a comprehensive database of human PAX6 gene mutations.
  • To provide a user-friendly platform for data submission, querying, and retrieval.
  • To facilitate research into PAX6-related genetic conditions.

Main Methods:

  • Development of a Microsoft Access database for storing mutation details.
  • Implementation of a web interface for remote data submission and querying.
  • Inclusion of curated genetic code and PAX6 gene information within the curation program.

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Main Results:

  • The database currently contains details of 94 PAX6 gene mutations.
  • A web page provides information, a submission form, and a search facility.
  • Data is downloadable in plain text format via the World Wide Web.

Conclusions:

  • The Human PAX6 Mutation Database serves as a valuable, accessible resource for geneticists and researchers.
  • The integrated curation program simplifies data entry by incorporating prior genetic knowledge.
  • Continued updates and accessibility will enhance its utility in studying PAX6-related phenotypes.