PAH F299C - GET-Evidence

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

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Curation:
Currentness:

PAH F299C

(PAH Phe299Cys)


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

  • C @ chr12:103245481: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (45 hits -- see all)
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    Mutations and polymorphisms detected in the PAH gene were identified by comparison with ... Scandinavian PAH mutations (F299C, R408Q, Y414C and G46S) accounted for 6.1% of the ...
    www.nature.com/ejhg/journal/v10/n9/full/5200841a.html
  • PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site
    PAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
    www.pahdb.mcgill.ca/?Topic=About&Section=CuratorsPage&Page=0
  • Mutation at the phenylalanine hydroxylase gene (PAH) and its ...
    Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population ... Only six mutations (M1V, R261Q, F299C, S349P, R408W and IVS12nt1) occurred in ...
    www.nature.com/ejhg/journal/v6/n1/abs/5200153a.html
  • PAH mutation list their BH4 responsiveness - Article database ...
    PAH mutation list their BH4 responsiveness. Wish that it is complete and most up-to-date ... My mutations are R408W and F299C both that are associated with ...
    pkuboard.info/pku-area/article-database/.../#post5697
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    screened for mutations at the human phenylalanine hydroxylase (PAH) locus. ... Scandinavian PAH mutations (F299C, R408Q, Y414C and. G46S) accounted for 6.1% of the ...
    web.unife.it/progetti/genetica/Giorgio/PDFfiles/ejhg2002.pdf
  • IVE-Human
    PAHdb Advanced Search ... p.F299C. 2. p.G272X. 2. p.S231P. 2. p.A403V. 2. p.R68G. 2. p.F39del. 2. p.S87R. 2. p.T124I. 2. p.I174T. 2. p.R176L. 2. p.V230I. 2. p.V245A. 2. p.V245E. 2. p.V245L. 2. p.D282N. 2 ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • Human Phenylalanine Hydroxylase Mutations and ...
    PAH Mutation Analysis Consortium Database, on 365. patients harboring 73 different PAH ... sible for HPA map to the PAH locus, some occur at loci. controlling ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • MIC - Metabolic Information Centre
    ... PAH and reduces blood phenylalanine (phe) concentrations in some patients with a ... p.F299C. IVS12+1G>A. not. Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann ...
    metagene.de/program/bh4.prg?id_d=329&vt=84
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... p.F299C. PAH. Phenylketonuria. p.F302fsX39. PAH. Phenylketonuria. p.F327L. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • A European Multicenter Study of Phenylalanine Hydroxylase ...
    complete deficiency of PAH activity is designated "classic ... gene encoding PAH and that the. different forms of PAH deficiency are allelic (Ledley et ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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