PAH S273F - GET-Evidence

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

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Curation:
Currentness:

PAH S273F

(PAH Ser273Phe)


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: 0.432 (possibly damaging)
    Web search results (15 hits -- see all)
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    R408W, the predominant Irish PAH mutation associated with haplotype 1.8, reached ... Exon sequences of the PAH locus were scanned for the presence of mutation by ...
    www.nature.com/ejhg/journal/v10/n9/full/5200841a.html
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.S273F. PAH. Phenylketonuria. p.S295X. PAH. Phenylketonuria. p.S303P. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    screened for mutations at the human phenylalanine hydroxylase (PAH) locus. ... R408W, the predominant Irish PAH mutation associated with haplotype ...
    web.unife.it/progetti/genetica/Giorgio/PDFfiles/ejhg2002.pdf
  • Phenylalanine hydroxylase (PAH) mutation map
    Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... S273F[H7] G272X[H1,7] H271Y. R270S[H1] R270K. R270_G272>Rfs. I269N. I269>Tfs. I269L. Y268H ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf
  • ESHG Posters 17
    ... Ivs10nt546, Ivs12nt1, R261Q, G272X, S273F, R413P – 0,6-1%. PAH gene STR and VNTR polymorphisms analysis were ... report the spectrum of the PAH gene mutations in patients with ...
    www.medacad.org/eshg/abstracts/posters17.htm
  • ESHG Posters 13
    Preliminary studies on the PAH mutations in these patients resulted in the detection of several mutations including the delL364, R261X, K341T, G272X and S273F. ...
    www.medacad.org/eshg/abstracts/posters13.htm
  • BIOCHEMICAL GENETICS
    p.R408W /p.L48S), CR 6 years (p.I65T/p.S273F) and JL 4 years (IVS10-3C>T/p.L48S) were ... uncertain BH4 responsiveness (p.S273F). Objective: To outline the healthcare costs of ...
    www.hgsa.com.au/images/UserFiles/Attachments/Posters.pdf
  • FINDbase
    PAH. Phenylketonuria. c.1066-11G>A, c.1155G>C, c.1169A>G, c.1222C>T, c.1238G>C, c.1315+1G>A, ... XfsX1, p.S196_C203>Lfs, p.S231P, p.S273F, p.S295X, p.S303P, p.S310F, p.S310_A313, ...
    findbase.org/display-file.php?...&submenu=genes&consortium=
  • Genetica Medica
    SECCIÓN 9 GENÉTICA MÉDICA X. Estivill Pallejà, V. Volpini Bertrán, M. Milà Recasens, F. Real Arriba
    www.slideshare.net/acastillop/genetica-medica
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... PKC (0.602) ARVD8 12373648 15941723 PAH P00439 T278A 278 VAR_000978 PIKK (0.611) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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