PAH S359X - 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 S359X

(PAH Ser359Stop)


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 (10 hits -- see all)
  • Human Phenylalanine Hydroxylase Mutations and ...
    We conclude that the majority of PAH mutations. confer a consistent phenotype and that ... 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.S359X. p.F55>Lfs. p.S87R. p.F39L. p.T186_W187>Tfs. p.T186_W187>Tfs. p.T200fsX6. p.G247S. p.T266E. p.R408W. p.T323del. p.Y414C. p.T380M. p.R408W. p.T81_R86>VfsX6 ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... p.S359X. PAH. Phenylketonuria. p.S40L. PAH. Phenylketonuria. p.S67P. PAH. Phenylketonuria. p.S87R ...
    findbase.org/display-file.php?...&consortium=
  • 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
  • Genetic Heterogeneity in Five Italian Regions: Analysis of ...
    nylalaninehydroxylase (PAH) gene mutations and mini- haplotypes (combinations of PAH gene ... ized were genotyped by SSCP analysis of PAH exons 2, 5, 6, 7, 8, 10, ...
    content.karger.com/produktedb/produkte.asp?...&file=hhe52154
  • FINDbase
    PAH. Phenylketonuria. c.1066-11G>A, c.1155G>C, c.1169A>G, c.1222C>T, c.1238G>C, c.1315+1G>A, c.1316-35C>T, c. ... p.S310_A313, p.S349A, p.S349P, p.S359X, p.S40L, p.S67P, p.S87R, p. ...
    findbase.org/display-file.php?...&submenu=genes&consortium=
  • OMIM: 612349
    RNase protection assays confirmed PAH expression in liver and kidney. ... amino acid 359 (S359X). . 0053 HYPERPHENYLALANINEMIA, NON-PKU MILD PAH, LEU98SER In a ...
    www.genome.jp/dbget-bin/www_bget?omim+612349

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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