Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

PAHdb 2003: what a locus-specific knowledgebase can do.

Charles R Scriver1, Mélanie Hurtubise, David Konecki

  • 1Department of Human Genetics, McGill University Health Centre, Montreal, Canada. charles.scriver@mcgill.ca

Human Mutation
|March 26, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS.

Annals of clinical and translational neurology·2026
Same author

Long-term safety and efficacy of deoxycytidine/deoxythymidine in treatment of POLG-related disorders.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics·2026
Same author

Structural and functional analysis of the <i>Bacillus cereus</i> GerI inosine-responsive spore germinant receptor.

mBio·2026
Same author

The crystal structure of the herpes virus ICP8 protein in complex with single-stranded DNA reveals the molecular determinants of nucleotide recognition.

The Journal of biological chemistry·2026
Same author

A novel score for transition success of pediatric rheumatology patients.

Health care transitions·2026
Same author

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias.

JIMD reports·2026
Same journal

RETRACTION: "Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells".

Human mutation·2026
Same journal

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Human mutation·2026
Same journal

Exploring the Functional Impact of Individual <i>DDX41</i> Variants With a Fast and Robust Cell-Based Method.

Human mutation·2026
Same journal

Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human <i>RET</i> Gene: An In Silico Study.

Human mutation·2026
Same journal

Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1.

Human mutation·2026
Same journal

Comment on "When the Outcome Contains the Exposure: Methodological Limits of a Genome-Wide Cross-Trait Analysis of Type 2 Diabetes and MASLD".

Human mutation·2026
See all related articles

PAHdb is a genetics database detailing human phenylalanine hydroxylase (PAH) gene alleles, including pathogenic variants linked to phenylketonuria (PKU) and hyperphenylalaninemia (HPA). It also includes mouse models for PKU research.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • PAHdb is a comprehensive, locus-specific database for the human phenylalanine hydroxylase (PAH) gene.
  • It curates and annotates both pathogenic and benign alleles, providing a vital resource for genetic research.
  • The database facilitates understanding of genetic variations impacting PAH function and associated disorders.

Purpose of the Study:

  • To present PAHdb as a detailed resource for human phenylalanine hydroxylase (PAH) gene alleles.
  • To annotate pathogenic and benign alleles, their effects, and clinical relevance for hyperphenylalaninemia (HPA) and phenylketonuria (PKU).
  • To include data on mouse models for PAH research and potential therapeutic strategies.

Main Methods:

  • Relational database design for locus-specific genetic information.

Related Experiment Videos

  • Annotation of human PAH alleles with systematic and trivial names, unique identifiers, and nucleotide numbering.
  • Integration of secondary data including allele source, haplotype background, and predicted functional effects via molecular modeling and in vitro expression analysis.

    • Main Results:

    • PAHdb records 439 pathogenic and 41 benign alleles of the human PAH locus.
    • The majority (63%) of pathogenic alleles are missense mutations, often affecting protein stability rather than direct enzyme kinetics.
    • A clinical module details hyperphenylalaninemia (HPA) and phenylketonuria (PKU), alongside data on four orthologous mouse models.

    Conclusions:

    • PAHdb serves as a crucial, legacy resource for the genetics of phenylalanine hydroxylase.
    • The database enhances understanding of PAH mutations, their molecular mechanisms, and clinical implications.
    • It supports research into hyperphenylalaninemia and phenylketonuria, including the utility of mouse models for therapeutic development.