PAH E221G - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

PAH E221G

(PAH Glu221Gly)


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: 0.768 (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 ...
    www.bmj.sk/2008/10901-05.pdf
  • 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.
    content.karger.com/ProdukteDB/produkte.asp?Doi=154340
  • 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. ...
    www.ncbi.nlm.nih.gov/pubmed/18447256
  • 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> ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?omim+612349

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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