PAH L255S - GET-Evidence

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

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Curation:
Currentness:

PAH L255S

(PAH Leu255Ser)


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: 1.0 (probably damaging)
    Web search results (38 hits -- see all)
  • WikiGenes - PAH - phenylalanine hydroxylase
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/5053.html
  • PAH gene mutation in Chinese patients with phenylketonuria in ...
    Abstract of PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang ... The mutations F161S, L255S, P281L, and R413P were significantly different from that in ...
    shs-nutrition.com/lowproteinliving/scientific-documents/...
  • Structural Studies on Phenylalanine Hydroxylase and ...
    ... PKU and genotyping of the PAH alleles, >400 mutations in the PAH gene are known to cause ... truncated form of PAH,1 a composite full-length structural model was constructed by ...
    pediatrics.aappublications.org/cgi/content/full/112/.../1557
  • Medline ® Abstract for Reference of 'Overview of phenylketonuria'
    In blacks, 20% of wild-type PAH alleles have a common Caucasian haplotype (i.e. ... 7 of the PAH cDNA, resulting in the conversion of leucine 255 to serine (L255S) ...
    uptodate.com/patients/content/abstract.do?TR=dis_chld/...
  • Mutation characteristics of the PAH gene in four nationality ...
    Mutation analysis of PAH in populations of Xin- jiang could, therefore, be helpful for ... for the second time that L255S, P281L, R261Q and I65T mutations were ...
    www.ias.ac.in/jgenet/Vol87No3/293.pdf
  • Phenylketonuria in U.S. blacks: molecular analysis of the ...
    In blacks, 20% of wild-type PAH alleles have a common Caucasian haplotype (i.e. ... 7 of the PAH cDNA, resulting in the conversion of leucine 255 to serine (L255S) ...
    www.ncbi.nlm.nih.gov/pubmed/2014802
  • 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 ... work done so far on PAH and. discusses some of the structural ...
    pediatrics.aappublications.org/cgi/reprint/112/6/S1/1557.pdf
  • [Characteristics of the PAH gene mutation in Chinese patients ...
    [Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in ... The mutations F161S, L255S, P281L, and R413P were significantly different from that in ...
    www.ncbi.nlm.nih.gov/pubmed/19199246
  • IVE-Human
    PAHdb Advanced Search ... 4. p.L255V. 4. p.A259T. 4. p.R252Q. 4. p.R157N. 4. p.K42I. 4. p.R270S. 4. p.L311P. 3. p.L255S. 3. p.R252G. 3. p.P244L. 3. p.D143G. 3. p.E390G. 3. p.A47V. 3 [p.T63P;p.H64N] 3 ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • Phenylketonuria mutations in Northern China
    By using PCR/SSCP and DNA sequencing, all exons of PAH gene in the 185 unre ... to PAH deficiency range in severity from classical PKU. through mild ...
    www.bh4.org/pdf/songMGM.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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