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Human PAX6 Allelic Variant Database


NAR Molecular Biology Database Collection entry number 136

Database Description

The Human PAX6 Mutation Database (1) was created to satisfy the need for a single source of information about human PAX6 gene mutations which are associated with developmental eye anomalies. It contains data produced in the MRC Human Genetics Unit, data gathered from the literature, and data submitted by researchers via the World Wide Web (WWW). PAX6 mutations have been found in a variety of dominantly inherited congenital eye defects including aniridia (absence of the iris), Peters¹ anomaly, cataract, keratitis and isolated foveal hypoplasia. The overwhelming majority of PAX6 mutations have been found in aniridia patients, and these almost always lead to premature termination of translation of the PAX6 protein. A genotype-phenotype correlation is beginning to emerge: missense PAX6 mutations are very rare in typical aniridia cases and tend to cause variant phenotypes. A review of PAX6 mutations based on the data contained in this database has been published (2). At the time of writing, the database contained nearly 200 entries. The original system was written specifically for PAX6, but the database now uses the free generic locus-specific mutation database system, developed by two of the authors, called MuStaRÅ’. The database comprises a Microsoft Access program which is used by the Curator to store, update, and search the database entries. This master copy of the database is maintained off-line, on a laptop computer if necessary. Mutations can be entered directly by the Curator, or imported from submissions made via the World Wide Web. The Human PAX6 Mutation Database web page located at URL http://www.hgu.mrc.ac.uk/Softdata/PAX6/ provides information about PAX6, as well as a fill-in form through which new mutations can be submitted to the Curator. A search facility allows remote users to query an on-line copy of the database. A plain text format file of the data can be downloaded via the World Wide Web. The Curation program contains prior knowledge of the genetic code and of the PAX6 gene including cDNA sequence, location of intron/exon boundaries, and protein domains. This permits the software to check for inconsistencies in newly entered mutations, and to alert the Curator who can consult with the submitter as to the cause of the problem before correcting errors. REFERENCES (1) Brown, A., McKie, M., van Heyningen, V. & Prosser, J. (1998). "The Human PAX6 Mutation Database." Nucleic Acids Research 26:259-264. (2) Prosser, J. & van Heyningen, V. (1998). "PAX6 Mutations Reviewed." Human Mutation 11(2):93-108.


Go to the abstract in the NAR 1998 Database Issue.
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