PAH Mutation Analysis Consortium Database: 1997 -- Prototype for relational locus-specific mutation databases
What you can do:
Search for curated information of nucleotide variation in the human PAH cDNA.
Highlights:
- PAHdb, a relational locus-specific database, records and annotates both pathogenic alleles (n = 439, putative disease-causing) and benign alleles (n = 41, putative untranslated polymorphisms) at the human phenylalanine hydroxylase locus (symbol PAH).
- An annotated gDNA sequence is numbered so that cDNA and gDNA sites are interconvertable.
- A site map for PAHdb leads to a large array of secondary data (attributes): source of the allele (submitter, publication, or population); polymorphic haplotype background; and effect of the allele as predicted by molecular modeling on the phenylalanine hydroxylase enzyme (EC 1.14.16.1) or by in vitro expression analysis.
- A clinical module describes the corresponding human clinical disorders (hyperphenylalaninemia [HPA] and phenylketonuria [PKU]), their inheritance, and their treatment.
- PAHdb contains data on the mouse gene (Pah) and on four orthologous mutant mouse models and their use (for example, in research on oral treatment of PKU with the enzyme phenylalanine ammonia lyase [EC 4.3.1.5]).
Keywords:
- PAH gene annotation
- Polymorphic PAH alleles
- mouse PAH locus
- PAH mutations
- PAH polymorphic haplotype
- pathogenic PAH alleles
- phenylalanine hydroxylase enzyme structures
- Phenylketonuria (PKU)
- human genetic disease gene
- tetrahydrobiopterin-responsive mutations
Literature & Tutorials:
PubMed Link: PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases
PubMed Link of 2003 review: PAHdb 2003: what a locus-specific knowledgebase can do
PubMed Link of 2003 review: PAHdb 2003: what a locus-specific knowledgebase can do
This record last updated: 04-05-2006