NAR Molecular Biology Database Collection entry number 144
Scriver, C.R.1, Hurtubise, M.1, Konecki, D.2, Phommarinh, M.1, Prevost, L.1, Erlandsen, H.3, Stevens, R.3, Waters, P.J.4, Ryan, S.1, McDonald, D.5, Sarkissian, C.1
1Departments of Human Genetics, Biology, and Pediatrics, McGill University Health Centre, Montreal, Canada
2Medical Genetics Branch, NHGRI/NIH, Bethesda, Maryland, USA
3Department of Molecular Biology, The Scripps Research Institute, La Jolla, California, USA
4Biochemical Genetics Laboratory Children's and Women's Health Center of British Columbia, Vancouver, British Columbia, Canada
5Department of Biological Sciences, Wichita State University, Wichita, Kansas, USA

Database 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 ( 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; 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 ( Links pertaining to PAH - OMIM, the Scripps Model (, 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 An algorithm (Teebi S and Scriver CR unpublished) permits data to be retrieved from this and any other LSDB and integrated into the proposed comprehensive (genomic) human mutation database.


Scriver, C.R, Hurtubise, M., Konecki, D. et al. Hum Mutat. 2003; 21(4): 333-344

Go to the abstract in the NAR 1998 Database Issue.
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