PAH Y204C - 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 Y204C

(PAH Tyr204Cys)


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: 0.452 (possibly damaging)
    Web search results (59 hits -- see all)
  • [Detection of the mutant phenylalanine hydroxylase gene by ...
    [Detection of the mutant phenylalanine hydroxylase gene by dideoxy fingerprinting] ... the mutant genes Y165X, Y204C and Q355H of PAH genes were detected. ...
    www.ncbi.nlm.nih.gov/pubmed/9691134
  • [Genetic diagnosis of phenylketonuria. III. Mutations of ...
    Phenylketonuria (PKU) is an autosomal recessive disorder caused by lesions in the phenylalanine hydroxylase (PAH) gene.
    www.medscape.com/medline/abstract/7844887
  • Two novel PAH gene mutations detected in Italian ...
    Two novel PAH gene mutations detected in Italian phenylketonuric patients. ... Interestingly, mutation Y204C, found on the second mutant allele of ...
    www.ncbi.nlm.nih.gov/pubmed/9048935
  • The molecular basis of phenylketonuria in Koreans
    cent studies of PAH crystal structure have provided. information on the active site and ... the PAH gene. have been identified and recorded in the PAH Mutation ...
    www.bh4.org/pdf/lee_pku.pdf
  • PAHdb
    mutations causing missense in translation of which few have a primary effect on PAH enzyme kinetics. ... The prevalent Y204C (c.611A>G) allele in exon 6. is associated with ...
    pahdb.mcgill.ca/.../Main/PAHdb2003HumMutat21333-344-2003.pdf
  • Mutation characteristics of the PAH gene in four nationality ...
    Mutation analysis of PAH in populations of Xin- jiang could, therefore, be helpful for ... The most prevalent mutations R243Q, Y204C, R111X, Y356X. and V399V were similar to the ...
    www.ias.ac.in/jgenet/Vol87No3/293.pdf
  • etrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    patients with PAH deficiency do not. respond to BH4, the nature of the ... A, Y204C, R241C, R243Q, Y356X, and R413P. Other. mutations were identified by analyzing. a ...
    www.bh4.org/pdf/kure.pdf
  • Genotype/Phenotype
    PAHdb Advanced Search ... Y204C. IVS10+3A>G. p.Y414C. IVS10+7C>A. IVS10+7C>A. IVS10-11G>A. p.E178G. IVS11+2T>C. IVS11+5G>T. IVS10-11G>A. IVS11-8G>A. p.R408W. IVS12+1G>A. IVS12+1G>A. IVS12 ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype
  • Molecular Characterization Of Phenylalanine Hydroxylase ...
    was examined to investigated the origin and distribution of PAH alleles in Chile. ... These mutations and their associated PAH gene polymorphisms show a non-random ...
    interscience.wiley.com/homepages/38515/pdf/mutation/243.pdf
  • PubMed: 9048935
    Interestingly, mutation Y204C, found on the second mutant allele of family F1, ... extends the remarkable heterogeneity of the PAH locus in the Italian population. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+9048935

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in