title: The Human PAX6 Mutation Database.
abstract: The Human PAX6 Mutation Database contains details of 94 mutations of the PAX6 gene. A Microsoft Access program is used by the Curator to store, update and search the database entries. Mutations can be entered directly by the Curator, or imported from submissions made via the World Wide Web. The PAX6 Mutation Database web page 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 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, so that the minimum of information need be provided by the submitter or Curator.
authors.affiliation: Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK. alastair.brown@hgu.mrc.ac.uk
authors.forename: A
authors.initials: A
authors.lastname: Brown
authors.forename: M
authors.initials: M
authors.lastname: McKie
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
authors.forename: J
authors.initials: J
authors.lastname: Prosser
mesh_terms: D003195:Computer Communication Networks; D004268:DNA-Binding Proteins / Q000235:genetics*; D016208:Databases, Factual; D005136:Eye Proteins; D018398:Homeodomain Proteins; D006801:Humans; D016247:Information Storage and Retrieval; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014584:User-Computer Interface
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins