PAH E76G - GET-Evidence

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

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Curation:
Currentness:

PAH E76G

(PAH Glu76Gly)


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: 0.003 (benign)
    Web search results (28 hits -- see all)
  • 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
  • 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
  • PAHdb
    PAH). Human alleles named by nucleotide number (systematic names) and ... translation of which few have a primary effect on PAH enzyme kinetics. ...
    pahdb.mcgill.ca/.../Main/PAHdb2003HumMutat21333-344-2003.pdf
  • IVE-Human
    PAHdb Advanced Search ... p.E76G. 3. p.R243X. 2. p.F299C. 2. p.G272X. 2. p.S231P. 2. p.A403V. 2. p.R68G. 2. p.F39del. 2. p.S87R. 2. p.T124I. 2. p.I174T. 2. p.R176L. 2. p.V230I. 2. p.V245A. 2. p.V245E. 2. p. ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • Mendelian Inheritance in Man Document Reader
    The PAH Mutation Analysis Consortium Database records both disease-producing and ... 2 have been accomplished: a cDNA clone expressing human PAH and a PAH-deficient ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+261600
  • doi:10.1086/521879
    missense mutations result in misfolding of PAH, increased protein turnover, and a loss of ... the remaining 238 PKU missense mutations compiled at the PAH locus knowledgebase ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Phenylketonurias :: enzymology
    BioInfoBank Library :: Phenylketonurias :: enzymology :: [In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of ...
    lib.bioinfo.pl/meid:96561
  • 01_Rel_2002
    tations in the PAH gene are compiled by the PAH Mutation Analysis Consortium ... the PAH enzyme. All the remaining mutations (D59Y, I65T, E76G, P122Q, ...
    www.clinped.unimi.it/atti/Relazioni_03.pdf
  • Protein Structure, Quaternary :: physiology
    BioInfoBank Library :: Protein Structure, Quaternary :: physiology :: Structural and functional diversity in the family of small heat shock proteins from the parasite ...
    lib.bioinfo.pl/meid:2591
  • Computational System Biology Reviews: 2003
    Literature Database News Photo Gallery Publications Site Map Site Search Useful ... based on expression analysis of structural and functional mutations in PAH. ...
    lansbury.bwh.harvard.edu/computational_system_biology_rev...

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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