PAH G272X - GET-Evidence

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

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Curation:
Currentness:

PAH G272X

(PAH Gly272Stop)


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
 

    Web search results (125 hits -- see all)
  • PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site
    PAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
    pahdb.mcgill.ca/?Topic=Information&Section=Haplotype&Page=0
  • Mutations Detected in Patients with BH4-responsive PAH Deficiency
    BH4-responsive PAH Deficiency. blue = mutations with residual activity (measured or ... G272X. R261X. R261Q* R252W. V245A. R243X. R243Q. R241H. R241C. P211T. V190A ...
    www.bh4.org/biopkudocs/PAH_domains.pdf
  • PAHdb
    PAH). Human alleles named by nucleotide number (systematic names) and ... translation of which few have a primary effect on PAH enzyme kinetics. ...
    pahdb.mcgill.ca/.../Main/PAHdb2003HumMutat21333-344-2003.pdf
  • A molecular survey of phenylketonuria in Lithuania: spectrum ...
    The frequency of five PAH mutations (R408W, R158Q, R261Q, G272X and IVS10nt-11g>a) in Lit ... Lithuania: spectrum, frequency and phenotypical manifestation of PAH ...
    images.katalogas.lt/maleidykla/bio23/B-60.pdf
  • 13 1 2 3 4 5 6 7 8 9 10 11 12 Introns Exons
    G272X. R270K. I269L. R261Q. R261X. R252W. V245A. R243Q. R243X. R241C. R241H ... Mutations with residual PAH activity (potentially BH4-responsive) Mutations associated ...
    www.biopku.org/biopkudocs/biopku_pah_map.pdf
  • mutation analysis
    mutations in the PAH exons and intron/exon boundaries we. further refined this method by ... lane 15: G272X/WT + E280K/WT; lane 16: V245V/ WT + G272X/WT; lane 17: ...
    www.bio-rad.com/LifeScience/pdf/Bulletin_2377.pdf
  • Phenylketonuria mutations in Northern China
    By using PCR/SSCP and DNA sequencing, all exons of PAH gene in the 185 unre ... to PAH deficiency range in severity from classical PKU. through mild ...
    www.bh4.org/pdf/songMGM.pdf
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    R408W, the predominant Irish PAH mutation associated with haplotype 1.8, reached ... Exon sequences of the PAH locus were scanned for the presence of mutation by ...
    www.nature.com/ejhg/journal/v10/n9/full/5200841a.html
  • MIC - Metabolic Information Centre
    ... PAH and reduces blood phenylalanine (phe) concentrations in some patients with a ... p.G272X. p.A403V. yes. Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. ...
    metagene.de/program/bh4.prg?id_d=135&vt=63
  • PKU mutation (D143G) associated with an apparent high ...
    Recombinant PAH was expressed in Escherichia coli (as a fusion ... heterozygous for the termination mutation G272X and the novel D143G mutation. ...
    www.ncbi.nlm.nih.gov/pubmed/8889583

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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