PAH P407L - GET-Evidence

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(PAH Pro407Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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 ...
  • 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: ...
    January 1980 through July 2000, plus selected earlier citations ... known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels ...
  • 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 ...
  • 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 ...
  • PAH Gene - GeneCards | PH4H Protein | PH4H Antibody
    Complete information for PAH gene (protein-coding), phenylalanine hydroxylase
  • 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) ...
  • Francesco Calì - research profile on BiomedExperts
    Francesco Calì - research profile on BiomedExperts:Phenylalanine Hydroxylase, Phenylketonurias, Sicily, Mutation, Haplotypes, Tandem Repeat Sequences.

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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