PAH Y277D - GET-Evidence

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

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Curation:
Currentness:

PAH Y277D

(PAH Tyr277Asp)


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 (50 hits -- see all)
  • Screening for six Mediterranean mutations in 90 Egyptian ...
    528 mutations in the PAH gene. Methods: Ninety unrelated patients with PKU (180 alleles) ... R261Q, R252W, Y277D, E221G and G272S) using polymerase chain reaction-restriction ...
    www.bmj.sk/2008/10901-05.pdf
  • IVE-Human
    PAHdb Advanced Search ... p.Y277D. 2. IVS10-11G>A. 2. p.P122Q. 2. p.A309V. 2. p.D59Y. 2. IVS12+1G>A. 1. p.R413P. 1. p.I94del. 1. p.M1V. 1. p.A322G. 1. p.F161S. 1. p.G247V. 1. p.L364del. 1. p.T278I. 1. p. ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • Predicted Effects of Missense Mutations on Native-State ...
    ... is a genetic disease caused by mutations in human phenylalanine hydroxylase (PAH) ... These outliers were Y277D9 (affecting hydrogen bonding to substrate), R270S54,55 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2265664/?tool=pmcentrez
  • Screening for six Mediterranean mutations in 90 Egyptian ...
    Screening for six Mediterranean mutations in 90 Egyptian patients with ... (PAH). This deficiency is attributed to more than 528 mutations in the PAH gene. ...
    www.ncbi.nlm.nih.gov/pubmed/18447256
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.Y277D. PAH. Phenylketonuria. p.Y325X. PAH. Phenylketonuria. p.Y343C. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • 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
  • mutation analysis
    mutations in each of the 13 exons of the PAH gene, Guldberg ... R261X/WT; lane 9: G272X/WT; lane 10: Y277D/WT; lane 11: E280K/WT; lane 12: P281L ...
    www.bio-rad.com/LifeScience/pdf/Bulletin_2377.pdf
  • 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
  • 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
  • Phenylalanine hydroxylase (PAH) mutation map
    Sites. Pvu IIb. STR. Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... Y277D[H2] Y277C. M276V[H4] M276R. M276K. M276I. P275S. P275R. P275L ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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