|
rs5030858
|
|
|
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 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
|
25596310 |
2015 |
|
rs5030858
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
|
24667081 |
2014 |
|
rs5030858
|
|
|
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 |
|
rs5030858
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
|
24385074 |
2014 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
|
22526846 |
2013 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.
|
23430547 |
2013 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
|
22513348 |
2012 |
|
rs5030858
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Phenylketonuria.
|
21915151 |
2012 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
|
21953985 |
2012 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
|
22112818 |
2012 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
|
19394257 |
2009 |
|
rs5030858
|
|
A |
0.900 |
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 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.
|
18937047 |
2009 |
|
rs5030858
|
|
|
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 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
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 |
|
rs5030858
|
|
|
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 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
|
17935162 |
2008 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.
|
16879198 |
2006 |
|
rs5030858
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
|
12655548 |
2003 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
|
12655546 |
2003 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The molecular basis of phenylketonuria in Lithuania.
|
12655550 |
2003 |
|
rs5030858
|
|
|
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 |
|
rs5030858
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.
|
12173030 |
2002 |
|
rs5030858
|
|
|
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 |