PAH P281L - GET-Evidence

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

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Curation:
Currentness:

PAH P281L

(PAH Pro281Leu)


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 @ chr12:103246593: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (262 hits -- see all)
  • Structural Studies on Phenylalanine Hydroxylase and ...
    As expected, in vitro expression of P281L PAH in E coli or African green monkey Cercopithecus aethiops kidney (COS) cells results in complete loss ...
    pediatrics.aappublications.org/cgi/content/full/112/.../1557
  • 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
  • Mutations Detected in Patients with BH4-responsive PAH Deficiency
    BH4-responsive PAH Deficiency. blue = mutations with residual activity (measured or ... K320N. P314S. A313T. S310Y. A300S. P281S. P281L. P281A. E280K. P278I. P275L ...
    www.bh4.org/biopkudocs/PAH_domains.pdf
  • PII: S1096-7192(02)00166-X
    PAH gene. Molecular analysis in 23 Italian patients with PAH deficiency identified two ... Two other amino acid substitutions, P281L and. P281S, were previously reported at the ...
    www.bh4.org/pdf/bardelli.pdf
  • Phenylketonuria missense mutations in the Mediterranean.
    Both mutations occurred in exon 7 of the PAH gene, resulting in the substitution of Trp for Arg at amino acid 252 (R252W) and of Leu for Pro (P281L) ...
    www.ncbi.nlm.nih.gov/pubmed/1672294
  • DOI: 10.1542/peds.112.6.S1.1557 2003;112;1557-1565 Pediatrics ...
    PAH mutations. Also, with the aid of recent crystal struc- ture determinations of co ... expression of P281L PAH in E coli or African green. monkey Cercopithecus aethiops kidney ...
    pediatrics.aappublications.org/cgi/reprint/112/6/S1/1557.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
  • PAH gene mutation in Chinese patients with phenylketonuria in ...
    Abstract of PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang ... The mutations F161S, L255S, P281L, and R413P were significantly different from that in ...
    shs-nutrition.com/lowproteinliving/scientific-documents/...
  • Mutation characteristics of the PAH gene in four nationality ...
    Mutation analysis of PAH in populations of Xin- jiang could, therefore, be helpful for ... the second time that L255S, P281L, R261Q and I65T mutations were ...
    www.ias.ac.in/jgenet/Vol87No3/293.pdf
  • A molecular survey of phenylketonuria in Lithuania: spectrum ...
    We report the spectrum of the PAH gene mutations in individuals ... Twenty-one different PAH gene mutations were. identified in Lithuania, resulting in an ...
    images.katalogas.lt/maleidykla/bio23/B-60.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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