PAH S349P - 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 S349P

(PAH Ser349Pro)


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: 0.999 (probably damaging)
    Web search results (81 hits -- see all)
  • Structural Studies on Phenylalanine Hydroxylase and ...
    ... PKU and genotyping of the PAH alleles, >400 mutations in the PAH gene are known to cause ... so far on PAH and discusses some of the structural effects of the currently known ...
    pediatrics.aappublications.org/cgi/content/full/112/.../1557
  • 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
  • DOI: 10.1542/peds.112.6.S1.1557 2003;112;1557-1565 Pediatrics ...
    bound at the PAH active site, the recently discovered. tetrahydrobiopterin-responsive PKU ... work done so far on PAH and. discusses some of the structural ...
    pediatrics.aappublications.org/cgi/reprint/112/6/S1/1557.pdf
  • Mutation at the phenylalanine hydroxylase gene (PAH) and its ...
    We describe variation at the PAH locus in the population of Quebec. ... Only six mutations (M1V, R261Q, F299C, S349P, R408W and IVS12nt1) occurred in the whole ...
    www.nature.com/ejhg/journal/v6/n1/abs/5200153a.html
  • The PKU mutation S349P causes complete loss of catalytic ...
    The PKU mutation S349P causes complete loss of catalytic activity in ... The mutation S349P in exon 10 of the phenylalanine hydroxylase (PAH) gene was identified ...
    www.ncbi.nlm.nih.gov/pubmed/7860062
  • 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
  • IVE-Human
    PAHdb Advanced Search ... p.S349P. 5. p.A259V. 5. p.G218V. 5. p.R68S. 5. p.R243Q. 4. p.EX6-96A>G. 4. p.L48S. 4. p.L255V. 4. p.A259T. 4. p.R252Q. 4. p.R157N. 4. p.K42I. 4. p.R270S. 4. p.L311P. 3. p.L255S ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • BIOPKU Search
    p.S349P. Nucleotide aberration 1. c.1045T>C. Location in gene 1. Exon 10. PAH domain 1 ... PAH domain 2. Residual activity (System) 2. CBR 2. Other Information ...
    www.biopku.org/dbsearches/BIOPKU_Details.asp?ID=324
  • 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
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... p.S349P. PAH. Phenylketonuria. p.S359X. PAH. Phenylketonuria. p.S40L. PAH. Phenylketonuria. p.S67P ...
    findbase.org/display-file.php?...&consortium=

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in