PAH R243X - 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 R243X

(PAH Arg243Stop)


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
 

    Web search results (112 hits -- see all)
  • Mutations Detected in Patients with BH4-responsive PAH Deficiency
    BH4-responsive PAH Deficiency. blue = mutations with residual activity (measured or ... R243X. R243Q. R241H. R241C. P211T. V190A. V177M. H170Q. R158W. R158Q. P470S ...
    www.bh4.org/biopkudocs/PAH_domains.pdf
  • Structural Studies on Phenylalanine Hydroxylase and ...
    ... PAH1–6 provide a structural scaffold to explain the effects of PAH ... Genotype V190A/R243X also displays variant HPA, and the BH4-responsive mutation ...
    pediatrics.aappublications.org/cgi/content/full/112/.../1557
  • Tetrahydrobiopterin-responsive phenylalanine hydroxylase de ...
    ... in the PAH gene. of patients 1^4 were A313T, and L367fsinsC; V190A and R243X; A300S and ... Normal human PAH protein is present as homopolymer produced by a single. genetic locus ...
    www.biopku.org/pdf/pku_bh4.pdf
  • Genetic Heterogeneity in Five Italian Regions: Analysis of ...
    ized were genotyped by SSCP analysis of PAH exons 2, 5, 6, 7, 8, 10, ... R243X was screened by amplification of PAH. exon 7 through RG-PCR using the 3) mutagenic ...
    content.karger.com/produktedb/produkte.asp?...&file=hhe52154
  • 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 ... A313T/1099insC, V190A/R243X, A300S/ A403V, and R241C/A403V. 54. These ...
    pediatrics.aappublications.org/cgi/reprint/112/6/S1/1557.pdf
  • 13 1 2 3 4 5 6 7 8 9 10 11 12 Introns Exons
    R243X. R241C. R241H. A300S. K320N. P314S. A313T. S310Y. A309V. I306V. A395P ... Mutations with residual PAH activity (potentially BH4-responsive) Mutations associated ...
    www.biopku.org/biopkudocs/biopku_pah_map.pdf
  • Moroccan Human Mutation Database
    Phenylketonuria, PAH. Gene. Phenylalanine hydroxylase (PAH) gene. OMIM Number. 261600 ... Phenylalanine hydroxylase (PAH) gene. OMIM Number. 261600. Published DNA ...
    www.sante.gov.ma/Departements/INH/MoHuMuDa/search/P10.htm
  • mutation analysis
    amplification reaction of the PAH exons and their intron-exon ... the PAH gene using DGGE analysis. Lane 1, WT/WT; lane 2, R243Q/WT; lane 3, R243X/WT; lane ...
    bio-rad.com/webroot/web/.../literature/Bulletin_2377B.pdf
  • mutation analysis
    The 13 different PAH exons are analyzed in 5 distinct multiplex ... exon 7 of the PAH gene using DGGE analysis. Lane 1: WT/WT; lane 2: R243Q/WT; lane 3: R243X/WT; lane 4: V245V ...
    www.bio-rad.com/LifeScience/pdf/Bulletin_2377.pdf
  • Genotype/Phenotype
    PAHdb Advanced Search ... R243X. Q301X. R111X. R123I. R123I. R155H. R176Q. R169H. P281L. R176Q. R158Q. R261Q. C284R. R297C. Y356X. R408W. EX3del4765. Y343D. Y343D [p.E56E;IVS2+1G>A] p.E280K. Go ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in