PAH R243X - GET-Evidence

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

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(PAH Arg243Stop)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Moroccan Human Mutation Database
    Phenylketonuria, PAH. Gene. Phenylalanine hydroxylase (PAH) gene. OMIM Number. 261600 ... Phenylalanine hydroxylase (PAH) gene. OMIM Number. 261600. Published DNA ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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