PAH S87R - GET-Evidence

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

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Curation:
Currentness:

PAH S87R

(PAH Ser87Arg)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.01 (benign)
    Web search results (25 hits -- see all)
  • 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 ...
    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.S87R. 2. p.T124I. 2. p.I174T. 2. 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 ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • MIC - Metabolic Information Centre
    ... PAH and reduces blood phenylalanine (phe) concentrations in some patients with a ... p.S87R. p.S349P. yes. Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. ...
    metagene.de/program/bh4.prg?vt=615
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... S87R. PAH. Phenylketonuria. p.T124I. PAH. Phenylketonuria. p.T186_W187. PAH ...
    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
  • Phenylalanine hydroxylase (PAH) mutation map
    Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... S87R[H1] D84Y[H4] T81P. T81_R86>VfsX6. E78K. Y77X. E76G. E76A. R71H. S70P. S70del. P69_S70delinsP ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf
  • MIC - Metabolic Information Centre
    ... PAH and reduces blood phenylalanine (phe) concentrations in some patients with a BH4 sensitive mutation. ... p.S349P | p.S87R | p.T193L194fsdelCT. p.R158Q | p.T193L194fsdelCT | p. ...
    www.metagene.de/program/bh4.prg
  • Stamboom Stamboom
    S87R. S87R. P89S. P89S. T92I. T92I. I94S. I94S. I95F. I95F. L98S. L98S. A104D ... Er is een gen (PAH) dat. PKU veroorzaakt. PKU veroorzaakt. PAH. PAH. PKU. PKU. De Ziekte. De ...
    cs.uu.nl/docs/vakken/zl/.../dag2/Genidentificatie.pdf
  • GÉNÉTIQUE BIOCHIMIQUE GÉNÉTIQUE BIOCHIMIQUE
    S87R. delF39. IVS1nt5g t IVS7nt1g a IVS2nt5g c L48S. T92I. L41F (F39L) ... déficit en PAH? déficit en PAH? 38 patients classés selon leur niveau de. 38 patients ...
    chu-sainte-justine.org/documents/Pro/...

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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