PAH P407L - GET-Evidence

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

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Curation:
Currentness:

PAH P407L

(PAH Pro407Leu)


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: 0.555 (possibly damaging)
    Web search results (9 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    The PAH Mutation Analysis Consortium Database records both disease-producing and ... 2 have been accomplished: a cDNA clone expressing human PAH and a PAH-deficient ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+261600
  • ref
    ... blood phe levels screening and identification of a new pah gene mutation (P407L) ... and identification of a new PAH gene mutation (P407L). EUROPEAN JOURNAL OF PEDIATRICS 158: ...
    www.unipa.it/~gdeleo/Pubblicazioni.html
  • CURRENT BIBLIOGRAPHIES IN MEDICINE
    January 1980 through July 2000, plus selected earlier citations ... known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels ...
    www.pku.org.ar/documentos/us_hd_pku.pdf
  • Chromosomal assignments of human type I and type II ...
    BioInfoBank Library :: Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes. Chromosomal mapping of human cytokeratin 13 ...
    lib.bioinfo.pl/pmid:2466616
  • OMIM: 612349
    RNase protection assays confirmed PAH expression in liver and kidney. ... the Pah gene to mouse chromosome 10. Shimizu et al. (1992) mapped the location of Pah in ...
    www.genome.jp/dbget-bin/www_bget?omim+612349
  • PAH Gene - GeneCards | PH4H Protein | PH4H Antibody
    Complete information for PAH gene (protein-coding), phenylalanine hydroxylase
    www.genecards.org/cgi-bin/carddisp.pl?gene=PAH&pubmed=224
  • Valentino Romano - research profile on BiomedExperts
    PAH gene mutations in the Sicilian population: association with minihaplotypes ... and identification of a new phenylalanine hydroxylase gene mutation (P407L) ...
    www.biomedexperts.com/Profile.bme/1670435/Valentino_Romano
  • Francesco Calì - research profile on BiomedExperts
    Francesco Calì - research profile on BiomedExperts:Phenylalanine Hydroxylase, Phenylketonurias, Sicily, Mutation, Haplotypes, Tandem Repeat Sequences.
    www.biomedexperts.com/Profile.bme/182771/Francesco_Cal%C3%AC

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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