Advance Search              Latest Recources





















Showing search results (1–1 of 1):

  1. PAHdb (View Publication)
    Full Name of the Resource : Mutations at the phenylalanine hydroxylase locus
    Resource Category : Databases -> Human Genes and Diseases -> Gene-System or Disease-Specific Databases

    Brief Description : PAHdb is a relational locus-specific mutation knowledgebase for the human phenylalanine gene (symbol PAH) and all its associated information. It is accessible through the web (http://www.pahdb.mcgill.ca). Genotype/phenotype correlations, haplotype associations and population distributions, along with in-vitro expression analysis data, are among the searchable data in PAHdb. Annotated auxiliary modules exist dealing with sequences, mutation mapping, haplotypes, three-dimensional modelling of the PAH enzyme molecule (including high-resolution stills and live animation), and genetic models of the phenylalanine gene (Pah) in the mouse. PAHdb is disease-oriented, focusing on hyperphenylalaninemia (HPA) (OMIM 261600), which results from a primary deficiency of PAH enzyme function (EC 1.14.16.1); information for patients affected by HPA is available in the form of an up-to-date clinical resource booklet, while clinicians have access to the entry for PAH deficiency in the peer-reviewed GeneClinics internet resource (http://www.geneclinics.org/profiles/pku/). Links pertaining to PAH - OMIM, the Scripps Model (http://stevens.scripps.edu/members/erlandsen/pahmovie.html), GenBank entries, etc.- are also included and periodically updated. Interaction with the knowledgebase, especially in the area of mutation submission by users, has been enhanced through a new 'user-friendly' interface. The PAHdb schema is now widely accepted as the template for the design and implementation of locus-specific mutation databases (LSDBs). Initial ventures by the community towards a comprehensive repository of allelic variation can use PAHdb, as a mature working implementation of accepted database structure and allele nomenclature guidelines. An algorithm (Teebi S and Scriver CR unpublished) permits data to be retrieved from this and any other LSDB and integrated into the proposed comprehensive (genomic) human mutation database.

    Institute/s :
    Departments of Human Genetics, Biology, and Pediatrics, McGill University Health Centre, Montreal, Canada
    Address of Institute/s :
    Departments of Human Genetics, Biology, and Pediatrics, McGill University Health Centre, Montreal, Canada
    Country : Canada

    Associated Institutes :

    • Departments of Human Genetics, Biology, and Pediatrics, McGill University Health Centre, Montreal, Canada
    • Medical Genetics Branch, NHGRI/NIH, Bethesda, Maryland, USA
    • Department of Molecular Biology, The Scripps Research Institute, La Jolla, California, USA
    • Biochemical Genetics Laboratory Children's and Women's Health Center of British Columbia, Vancouver, British Columbia, Canada
    • Department of Biological Sciences, Wichita State University, Wichita, Kansas, USA

    Associated Country : USA; Canada


    Authors/Contributors : Scriver, C.R.
    Contact Email : charles.scriver@mcgill.ca
    Year : 1998
    Language : English

    Keywords : Animals; Databases, Genetic / trends; Disease Models, Animal; Genetic Markers; Genetic Predisposition to Disease / genetics; Humans; Internet; Phenylalanine Hydroxylase / genetics; Phenylketonurias / enzymology / etiology / genetics