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PAHdb : A locus‐specific knowledgebase
Author(s) -
Scriver Charles R.,
Waters Paula J.,
Sarkissian Christineh,
Ryan Shan,
Prevost Lynne,
Côté David,
Novak Jaroslav,
Teebi Saeed,
Nowacki Piotr M.
Publication year - 2000
Publication title -
human mutation
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200001)15:1<99::aid-humu18>3.0.co;2-p
Subject(s) - biology , phenylalanine hydroxylase , hyperphenylalaninemia , genetics , locus (genetics) , allele , phenotype , haplotype , population , gene , computational biology , phenylalanine , demography , amino acid , sociology
PAHdb is an online relational locus-specific "mutation database" (http://www.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbol PAH) and its associated phenotypes (protein, metabolic, clinical). When combined with associated information (population distribution of allele, haplotype association, etc.) PAHdb functions as a knowledgebase. From the outset, and in the absence of raw data (e.g., sequence gels), PAHdb has instead been an annotated repository of information about mutations maintained by a team of curators. It is also disease-oriented, being focused on a variant phenotype (hyperphenylalaninemia (HPA) and its most important form of disease, phenylketonuria (PKU)) resulting from primary dysfunction of the PAH enzyme (EC 1.14.16.1); it is "patient friendly" in that it contains information for those personally involved with HPA/PKU (MIM# 261600). PAHdb also serves its community through direct interaction.