PAH E221G - GET-Evidence

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

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(PAH Glu221Gly)

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: 0.768 (possibly damaging)
    Web search results (5 hits -- see all)
  • Screening for six Mediterranean mutations in 90 Egyptian ...
    528 mutations in the PAH gene. Methods: Ninety unrelated patients with PKU (180 alleles) ... R261Q, R252W, Y277D, E221G and G272S) using polymerase chain reaction-restriction ...
  • Phenylketonuria in Costa Rica: Preliminary Spectrum of PAH ...
    Karger is a medical publisher, scientific publisher and biomedical publisher of print and online journals and books.
  • Screening for six Mediterranean mutations in 90 Egyptian ...
    Screening for six Mediterranean mutations in 90 Egyptian patients with ... (PAH). This deficiency is attributed to more than 528 mutations in the PAH gene. ...
  • Phenylalanine hydroxylase (PAH) mutation map
    Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... E221G[H4] E221_D222>Efs [H4] G218V[H1,2] C217Y. C217R. C217G. Y216X. L213P. L212P. P211T. P211> ...
  • OMIM: 612349
    ... PAH expression in liver and kidney. RNA in situ hybridization revealed PAH expression ... GENE STRUCTURE The PAH gene spans 90 kb (Guttler and Woo, 1986) and contains 13 exons ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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