PAH R176L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

PAH R176L

(PAH Arg176Leu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr12:103249093: 0.0% (2/10758) in EVS
  • Frequency shown in summary reports: 0.0% (2/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.647 (possibly damaging)
    Web search results (31 hits -- see all)
  • Ten Novel Mutations in the Phenylalanine Hydroxylase Gene ...
    known substitution - R176L – localized in exon 6. IVS5-54A/G was in homozygous ... in the PAH gene in exon 6 at amino acid 205, resulting in a missense mutation. ...
    interscience.wiley.com/homepages/38515/pdf/mutation/393.pdf
  • Tetrahydrobiopterin responsiveness: results of the BH
    responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently ... of specific mutations (D415N, S87R, R176L, E390G, and A309V) present in ...
    www.bh4.org/pdf/desviat.pdf
  • Human Phenylalanine Hydroxylase Mutations and ...
    PAH Mutation Analysis Consortium Database, on 365. patients harboring 73 different PAH ... sible for HPA map to the PAH locus, some occur at loci. controlling ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • IVE-Human
    PAHdb Advanced Search ... p.R176L. 2. p.V230I. 2. p.V245A. 2. p.V245E. 2. p.V245L. 2. p.D282N. 2. p.I283F. 2. p.I306V. 2. p.A342T. 2. p.A395P. 2. p.D415N. 2. p.I318T. 2. p.Y277D. 2 ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... p.R176L. PAH. Phenylketonuria. p.R176X. PAH. Phenylketonuria. p.R241>Pfs. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • A European Multicenter Study of Phenylalanine Hydroxylase ...
    complete deficiency of PAH activity is designated "classic ... gene encoding PAH and that the. different forms of PAH deficiency are allelic (Ledley et ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Molecular Characterization Of Phenylalanine Hydroxylase ...
    was examined to investigated the origin and distribution of PAH alleles in Chile. ... These mutations and their associated PAH gene polymorphisms show a non-random ...
    interscience.wiley.com/homepages/38515/pdf/mutation/243.pdf
  • MIC - Metabolic Information Centre
    ... PAH and reduces blood phenylalanine (phe) concentrations in some patients with a BH4 sensitive mutation. ... p.R176L. p.P281L. yes. Hennermann et al. p.S110L. p.P281L. yes. Lindner et ...
    metagene.de/program/bh4.prg?vt=158
  • MIC - Metabolic Information Centre
    ... PAH and reduces blood phenylalanine (phe) concentrations in some patients with a BH4 sensitive mutation. ... p.R176L. p.P281L | p.R176L | p.R176P. p.P281L | p.R176P | p.R176X. IVS1 ...
    www.metagene.de/program/bh4.prg
  • Polymorphisme et phnylctonurie
    Tableau 1. Répartition de la plupart des formes alléliques du gène PAH. ... Parmi les 463 formes différentes du gène PAH on a pu en caractériser quelques ...
    genet.univ-tours.fr/mediatheque/.../WEB/DEF EXOS I GENET.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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