PAH R408Q - GET-Evidence

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

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Curation:
Currentness:

PAH R408Q

(PAH Arg408Gln)


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: 0.999 (probably damaging)
    Web search results (144 hits -- see all)
  • Mutations Detected in Patients with BH4-responsive PAH Deficiency
    BH4-responsive PAH Deficiency. blue = mutations with residual activity (measured or ... R408Q. P407S. A403V. A395P. E390G. P390G. V388M. A373T. L367fsinsC. K320N ...
    www.bh4.org/biopkudocs/PAH_domains.pdf
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    Mutations and polymorphisms detected in the PAH gene were identified by comparison with ... Scandinavian PAH mutations (F299C, R408Q, Y414C and G46S) accounted for 6.1% of the ...
    www.nature.com/ejhg/journal/v10/n9/full/5200841a.html
  • PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site
    PAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
    www.pahdb.mcgill.ca/?Topic=About&Section=CuratorsPage&Page=0
  • Structural Studies on Phenylalanine Hydroxylase and ...
    ... full-length PAH, no full-length tetrameric structures exist for PAH. ... Another mutation, R408Q, associated with an HPA phenotype, reportedly shows 55% residual PAH activity.42 ...
    pediatrics.aappublications.org/cgi/content/full/112/.../1557
  • In Vivo Studies of Phenylalanine Hydroxylase by Phenylalanine ...
    lated with hepatic PAH activity and clinical phenotype (8 –10) ... The patient with R408Q (in vitro PAH. activity, 55%) and Del 5&6 had higher CRR than four ...
    www.biopku.org/pdf/okanoPedRes.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
  • The molecular basis of phenylketonuria in Koreans
    (R53H, R241C, and R408Q), suggesting there are some. correlations between phenotype and ... the PAH gene. have been identified and recorded in the PAH Mutation ...
    www.biopku.org/pdf/lee_pku.pdf
  • 13 1 2 3 4 5 6 7 8 9 10 11 12 Introns Exons
    R408Q. R408W. P407S. A403V. Mutations with residual PAH activity ... Mutations associated with BH4-responsiveness (hemizygous) IVS12nt+1g>a. IVS10nt-11g>a ...
    www.bh4.org/biopkudocs/biopku_pah_map.pdf
  • Mutation at the phenylalanine hydroxylase gene (PAH) and its ...
    Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population ... non-PKU HPA (T92I, E390G, R408Q, D415N); iii) 34 mutations causing ...
    www.nature.com/ejhg/journal/v6/n1/abs/5200153a.html
  • DOI: 10.1542/peds.112.6.S1.1557 2003;112;1557-1565 Pediatrics ...
    bound at the PAH active site, the recently discovered. tetrahydrobiopterin-responsive PKU ... R408Q, associated with an. HPA phenotype, reportedly shows 55% residual. PAH activity. ...
    pediatrics.aappublications.org/cgi/reprint/112/6/S1/1557.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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