PAH L333F - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PAH L333F

(PAH Leu333Phe)


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: 0.654 (possibly damaging)
    Web search results (26 hits -- see all)
  • Illegitimate transcription of the phenylalanine hydroxylase ...
    Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for ... phenylalanine hydroxylase (PAH) gene, we have been able to analyse the PAH cDNA sequence ...
    www.ncbi.nlm.nih.gov/pubmed/8098245
  • IVE-Human
    PAHdb Advanced Search ... p.L333F. 1. p.E178V. 1. p.R241H. 1. p.G171A. 1. p.R413S. 1. p.L41F. 1. p.T92I. 1. p.P211T. 1. p.R270K. 1. Go to Top. Copyright 2007 Debelle Laboratory. All right ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.L333F. PAH. Phenylketonuria. p.L347F. PAH. Phenylketonuria. p.L348V. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • Mendelian Inheritance in Man Document Reader
    The PAH Mutation Analysis Consortium Database records both disease-producing and ... for the L333F/E390G mutations resulted in severe and mild PAH deficiencies, respectively, ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+261600
  • 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
  • doi:10.1086/521879
    missense mutations result in misfolding of PAH, increased protein turnover, and a loss of ... the remaining 238 PKU missense mutations compiled at the PAH locus knowledgebase ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • BLAST Search Results
    49 0.001 gb|S61396.1|S61396 PAH=phenylalanine hydroxylase {exon 9/10... 47 0.004 gb ... PAH=phenylalanine hydroxylase {exon 11/1... 36 7.5 gb|S75697.1|S75697 PAH=phenylalanine ...
    www.chickest.udel.edu/orthomouse/m561.html
  • BLAST Search Results
    191 e-114 emb|X98116.1|DMPHEHY D.melanogaster pah/tph gene 191 e-114 ref|NM_009377.1| Mus ... 0.20 gb|S61396.1|S61396 PAH=phenylalanine hydroxylase {exon 9/10...
    www.chickest.udel.edu/orthochick/c120.html
  • FINDbase
    PAH. Phenylketonuria. c.1066-11G>A, c.1155G>C, c.1169A>G, c.1222C>T, c. ... L213P, p.L242F, p.L249F, p.L311P, p.L333F, p.L347F, p.L348V, p.L364del, p.L367> ...
    findbase.org/display-file.php?...&submenu=genes&consortium=
  • Illegitimate transcription of the phenylalanine hydroxylase ...
    Two mutations markedly reduced PAH activity (A259V and L333F), one mutation mildly altered the enzyme ... markedly reduced PAH activity (A259V and L333F), one mutation mildly ...
    lib.bioinfo.pl/pmid:8098245

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in