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Welcome to the PAHdb World Wide Web site

This site is run with the following aim: To provide users with access to up-to-date information about mutations at the phenylalanine hydroxylase locus. Here you will have access to the content of the database in the form of electronic reports. The database is updated manually off-line by the curators to assure that no erroneous information is appended. The curators now also accept data electronically via the submission form. For a better synopsis of the site's function, please read the PAHdb Knowledgebase Abstract.

Information about PAH mutations

Mutations in the phenylalanine hydroxylase (PAH) gene, the majority of which result in deficient enzyme activity and cause hyperphenylalaninemia, occur in all 13 exons of the gene and flanking sequence. Some cause phenylketonuria, others cause non-PKU hyperphenylalaninemia, while still others are silent polymorphisms present on both normal and mutant chromosomes. Some PAH alleles are present at elevated frequencies; 5 account for approximately 60% of European mutations and they tend to cluster in regions or are on only one of a few haplotypes. Several hundred mutations as well as three-fold greater mutation associations have been recorded. The majority of changes are missense mutations, although splice, nonsense and silent mutations, as well as single base-pair frameshifts, and larger deletions and insertions have been found.

Information about the PAH mutations database

Mutation data were collated from both published articles and personal communications of 82 investigators from the PAH Mutation Analysis Consortium in 32 countries. We have developed a database which enables us to maintain and centralize mutation data on the PAH gene, while providing fast and easy access for users. Searchable fields of the database available to users are: mutation name, polymorphic haplotype, population, geographic location, gene region, codon number, mutation type, substitution, phenotype, author's name and many more. The complete information provided for each mutation is regularly updated from both published data and personal communications. This database occupies a WWW ( site on the internet. See Links page for connection.

PAHdb has been identified as one of the top three locus specific databases. Contributions made by Investigators working in the metabolic field are largely responsible for its success. We encourage Researchers to submit their novel mutations, various associations as well as any pertinent information relating to the PAH  gene and Phenylketonuria. Please note that we are committed to recognize and give acknowledgements for your involvement in advancing this important research.

What's New!
[2009.08.31] 2 novel mutations added to the database:
P69_S70delinsP(delCTT), A156P
Submitted by ZhuJun Shao from HeNan,China
[2009.06.02] 12 novel mutations added to the database:
M1L, D129V
Submitted by Sara teresa Méndez from México, Mexico
Q134X, R123I, C284R
Submitted by Carla Carducci from Rome, Italy
IVS1nt+40T>G, IVS3nt+1G>A, A165D, Q301X, IVS10nt-31G>A, P362L, R413G
Submitted by Song Li from TinJin, China
[2009.03.31] Update Curator's Page: A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population.
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
[2009.03.25] Added second reference to those BH4-responsive mutations
[2008.04.16] Update Curator's Page: Evolutionary and Biomedical Insights from the Rhesus Macaque Genome (Rhesus Macaque Genome Sequencing and Analysis Consortium)
[2008.03.17] Update Curator's Page: New development in BH4 responsive PKU/HPA
[2007.12.04] Update Curator's Page: The birth prevalence of PKU in populations of European, South Asian and Sub-Saharan African ancestry living in South East England.
[2007.11.23] Update Curator's Page: Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases
[2007.08.13] Revised mutation map (531 mutations to date)
[2007.08.08] New Advance Search Engine!
[2007.04.05] 3 novel mutations added to the database: IVS10+39G>T, IVS10+97G>A, IVS9+43G>T.
[2007.01.08] Revised mutation map (528 mutations to date)
[2006.12.04] 4 novel mutations added to the database: c.442_509del, c.442_509del68, c.169_352del184, c.1127delA.
[2006.08.16] Automatic Mutation Map (beta version!)
[2006.08.03] Revised mutation map (524 mutations to date)
[2006.03.14] 1 novel mutation added to the database: p.IVS12+6T>A. Revised mutation map (513 mutations to date).
[2006.03.02] Revised mutation map (512 mutations to date)
[2006.03.02] 14 novel mutations added to the database: p.I38fsX19, p.IVS4+3G>C, p.Y154H, p.R157K, p.R157I, p.T200fsX6, p.Q267H, p.Q267E, p.F302fsX39, p.G346R, p.S349A, p.L367L, p.R400K, p.IVS12+4A>G.
[2006.02.10] PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
[2006.02.09] The molecular basis of phenylketonuria in Koreans.
[2006.02.02] Phenylketonuria mutations in Northern China.

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Important support was obtained from:
  • The Canadian Genetic Diseases Network (CGDN-Network of Centers of Excellence)
  • Réseau de Médecine Génétique Appliquée (RMGA-FRSQ)
  • Robert McDonald Gift and Fund
  • MRC of Canada (Group in Medical Genetics) (Historical)

Copyright © 2003 DeBelle Laboratory - Created [2002.10.17.208076] - Updated [2009.08.31]