present in Gene: PAH
present in Chromosome: 12
Position on Chromosome: 102840507
Alleles of this Variant: G/A
rs5030857 in
PAH gene and
Classical phenylketonuria
PMID 22526846 2013 Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
PMID 23764561 2013 Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
PMID 22513348 2012 Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
PMID 23559577 2013 Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
PMID 18299955 2008 Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
PMID 16198137 2005 Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
PMID 12655553 2003 Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
PMID 23500595 2013 Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
PMID 21953985 2012 Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
PMID 18294361 2008 A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
PMID 22330942 2012 The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
PMID 12649065 2003 DHPLC mutation analysis of phenylketonuria.
PMID 17935162 2008 Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
PMID 17096675 2007 Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
PMID 12655550 2003 The molecular basis of phenylketonuria in Lithuania.
PMID 19062537 2008 Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
PMID 21820508 2011 Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.
PMID 12501224 2002 Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
PMID 12640344 2003 Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
PMID 23430547 2013 Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.
PMID 12409276 2002 The detection of the A403V amino acid substitution in combination with null mutations in patients with BH4-responsive PAH deficiency leads us to correlate it with BH4 responsiveness.
PMID 12644360 2003 Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations.
PMID 11524738 2001 Molecular basis of phenylketonuria in Cuba.
PMID 11385716 2001 Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
PMID 25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
PMID 11486900 2001 Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
PMID 10479481 1999 The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
PMID 24350308 2013 Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
PMID 24385074 2014 Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
PMID 8268925 1993 Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
PMID 9781015 1998 Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
PMID 24667081 2014 Phenylketonuria Scientific Review Conference: state of the science and future research needs.
PMID 9429153 1997 Molecular basis of mild hyperphenylalaninaemia in Poland.
PMID 8739972 1996 Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.
PMID 8889590 1996 Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.
rs5030857 in
PAH gene and
Overgrowth
PMID 23514811 2013 Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
PMID 17443661 2007 The PAH gene, phenylketonuria, and a paradigm shift.
PMID 20188615 2010 Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
PMID 8406445 1993 Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
PMID 9399896 1997 Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
PMID 18566668 2008 Phenylketonuria: an inborn error of phenylalanine metabolism.
PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.
PMID 14760268 2004 Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy.
PMID 15665165 2005 Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.
PMID 25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
PMID 15171997 2004 The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
PMID 17410469 2007 Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.
PMID 22965559 2013 Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.
PMID 17935162 2008 Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
PMID 11328945 2001 Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.
PMID 11581453 2001 National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.
PMID 11043162 2000 Mutation analysis anticipates dietary requirements in phenylketonuria.