PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

PAHvdb : Phenylalanine Hydroxylase Gene Locus-Specific Database

PAH Gene Card (The Human Gene Compedium)

 

 

 

Current number of PAH variants

(as of March 6, 2017)

991

 

DATABASE MANAGERS

Nenad Blau, Heidelberg, Germany

Wyatt Yue, Oxford, UK

Belen Perez, Madrid, Spain

 

CONSORTIUM MEMBERS

Carla Carducci
Sapienza University of Rome
Rome, Italy

Jaimie Higgs
GeneDx
Gaithersburg, USA

MARCELA VELA-AMIEVA
NATIONAL INSTITUTE OF PEDIATRICS (INSTITUTO NACIONAL DE PEDIATRĶA)
MEXICO, D.F., MEXICO

 

Downloadable Documents/Links

PAH mRNA

PAH gDNA sequence (McGill PAH Mutation Analysis Consortium)

PAH cDNA seaquence (McGill PAH Mutation Analysis Consortium)

Structures of human and mouse PAH (W. Yue group)

PAH subunit and variants

PAH genomic structure and variants

Frequency of variants in the phenylalanine hydroxylase gene (PAH)

PAH variants activity in cell lysates (mean % of the wild-type)

The reference accession number for the PAH sequence is ENSG00000171759; RefSeq NM_000277.1. All variants were checked with Mutalyzer 2.0.beta-27 (https://mutalyzer.nl/check). Sequence variants are compliant with the HGVS rules (http://www.hgvs.org/mutnomen/).