PAH R261X - GET-Evidence

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

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Curation:
Currentness:

PAH R261X

(PAH Arg261Stop)


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 (108 hits -- see all)
  • Mutations Detected in Patients with BH4-responsive PAH Deficiency
    BH4-responsive PAH Deficiency. blue = mutations with residual activity (measured or ... R261X. R261Q* R252W. V245A. R243X. R243Q. R241H. R241C. P211T. V190A. V177M ...
    www.bh4.org/biopkudocs/PAH_domains.pdf
  • Frequencies of phenylalanine hydroxylase mutations I65T ...
    PAH catalyses the hydroxylation of phenylalanine to tyrosine. ... presence of the PAH mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, ...
    funpecrp.com.br/gmr/year2006/vol1-5/gmr0179_full_text.htm
  • Genetic Heterogeneity in Five Italian Regions: Analysis of ...
    (PAH) the main clinical signs of which are impaired cog- nitive ... PAH allele R261X associated to 7:242 was present in. Puglia/Basilicata and was also found ...
    content.karger.com/produktedb/produkte.asp?...&file=hhe52154
  • Frequencies of phenylalanine hydroxylase mutations I65T ...
    Determination of the PAH mutations in each patient can help predict ... presence of the PAH mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, ...
    www.funpecrp.com.br/gmr/year2006/vol1-5/pdf/gmr0179.pdf
  • PII: S1096-7192(02)00166-X
    PAH gene. Molecular analysis in 23 Italian patients with PAH deficiency identified two ... control and the nucleotide changes c:781C > T (R261X) and c:782G > A (R261Q) ...
    www.bh4.org/pdf/bardelli.pdf
  • 13 1 2 3 4 5 6 7 8 9 10 11 12 Introns Exons
    R261X. R252W. V245A. R243Q. R243X. R241C. R241H. A300S. K320N. P314S. A313T ... Mutations with residual PAH activity (potentially BH4-responsive) Mutations associated ...
    www.biopku.org/biopkudocs/biopku_pah_map.pdf
  • The spectrum of phenylalanine variations under ...
    forms of PAH deficiency (Bardelli et al 2002; Bernegger and ... 95) but not with R261X (patient 41). Another new. PAH mutation, namely G352C located in ...
    www.biopku.org/pdf/leuzzijimd.pdf
  • 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
  • Genotype/Phenotype
    PAHdb Advanced Search ... p.R261X. p.L249F. p.R408W. p.L311P. p.R408Q. p.L348V. p.R408W. p.L367L. p.R243Q. p.L385L. p.C217R. p.L48S. p.R111X. p.L88_P89>Pfs. IVS12+1G>A. p.M1V. p.M1V. p.M276R. p. ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype
  • A molecular survey of phenylketonuria in Lithuania: spectrum ...
    We report the spectrum of the PAH gene mutations in individuals ... Twenty-one different PAH gene mutations were. identified in Lithuania, resulting in an ...
    images.katalogas.lt/maleidykla/bio23/B-60.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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