rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
25596310
2015
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
26666653
2015
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
24667081
2014
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
24385074
2014
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
24368688
2014
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
23500595
2013
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
21953985
2012
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
22513348
2012
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Clinical utility gene card for: Phenylketonuria.
21915151
2012
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.
19036622
2009
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
BEFREE
The PAH mutant proteins (R158Q , I174T and R408W) that result in the classical phenylketonuria (PKU) phenotype expressing 0.2-1.8% of the wild type PAH activity when using phenylalanine as substrate were found to have <0.1% of the wild type PAH activity when SCMC was used as the substrate.
19036622
2009
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
17935162
2008
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
BEFREE
Thus, the phenylketonuria -associated PAH mutant R158Q had a coupling efficiency of about 80%, compared to the wild-type enzyme under similar conditions.
15963939
2005
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
12655546
2003
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.
14654665
2003
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
10479481
1999
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
9634518
1998
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
GeneticVariation
CLINVAR
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
8659548
1996
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Molecular basis of phenotypic heterogeneity in phenylketonuria.
2014036
1991
rs5030843
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
T
0.820
CausalMutation
CLINVAR
Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
2606484
1989