Gene: PAH ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. 8946176

1996
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE Finally, R(th) was shown to detect prevalent single-nucleotide polymorphisms, c.473G>A (R158Q), c.932T>C (p.L311P), and c.1222C>T (R408W), correlated with phenylketonuria, displaying an effect related to the different melting temperatures of homoduplexes and heteroduplexes. 24741310

2014
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria patients occurs on haplotypes 2.3 and 1.8 in Europeans. 7833927

1994
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H). 18538294

2008
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE In addition, two previously known PKU point mutations (R261Q and R408W) were found in individuals with non-PKU HPA. 1867197

1991
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE The association of 3 mutations (R408W, IVS10 and A403V) common in different European populations with a variable number tandem repeat (VNTR) and short tandem repeat sites (minihaplotype) in the PAH gene was examined in a group of Polish PKU and MHP patients. 11096279

2001
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection. 11317360

2001
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs5030858
rs5030858
PAH
0.900 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
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE Genetic diversity within the R408W phenylketonuria mutation lineages in Europe. 12655548

2003
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene. 12542580

2003
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE We report statistically significant overrepresentation of pathogenic variants for several Mendelian disorders, including phenylketonuria (PAH, rs5030858), Wilson's disease (ATP7B, rs76151636), factor VII deficiency (F7, rs36209567), kyphoscoliosis type of Ehlers-Danlos syndrome (FKBP14, rs542489955), and several other recessive pathologies. 31482689

2019
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation BEFREE We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria mutations in Northern Ireland (R408W, 165T and F39L) together with the analysis of a polymorphic short tandem repeat site at the human phenylalanine hydroxylase locus. 8808316

1995
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation BEFREE In addition, two previously known PKU point mutations (R261Q and R408W) were found in individuals with non-PKU HPA. 1867197

1991
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation BEFREE Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. 1915502

1991
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation BEFREE We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature. 11999982

2002
dbSNP: rs5030843
rs5030843
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs5030843
rs5030843
PAH
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
dbSNP: rs5030843
rs5030843
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030843
rs5030843
PAH
0.820 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012