PAH A322G - GET-Evidence

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

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Curation:
Currentness:

PAH A322G

(PAH Ala322Gly)


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: 0.136 (benign)
    Web search results (13 hits -- see all)
  • Human Phenylalanine Hydroxylase Mutations and ...
    PAH Mutation Analysis Consortium Database, on 365. patients harboring 73 different PAH ... sible for HPA map to the PAH locus, some occur at loci. controlling ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • IVE-Human
    PAHdb Advanced Search ... p.A322G. 1. p.F161S. 1. p.G247V. 1. p.L364del. 1. p.T278I. 1. p.W187C. 1. p.C265Y. 1. p.L52S. 1. p.S70P. 1. p.R241C. 1. p.L333F. 1. p.E178V. 1. p.R241H. 1. p.G171A. 1. p.R413S. 1 ...
    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
  • OMIM ENTRY 261600
    The PAH gene is 90 kb long and codes for a mature mRNA of 2.4 kb. Molecular heterogeneity ... in abnormal PAH mRNA processing and the loss of PAH activity (DiLella ...
    www.dur.ac.uk/~dbl0www3/MBD/PKU.html
  • Phenylalanine hydroxylase (PAH) mutation map
    Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... A322G[H12] L321L. K320N. I318T. D315Y. P314T. P314S. P314H. P314>Lfs [H4] A313V. A313T. G312V ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf
  • Fenylalaninhydroxylasa – struktura a funkce
    Fig 3. Structure of a monomer of human PAH full-length composite model ... A322G. Ser251. Tyr325. Y325C. Phe254. F254I. Glu330. E330D. Struktura aktivního místa PAH. BH ...
    biomikro.vscht.cz/enzymologie/pah.pdf
  • 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
  • Genetica Medica
    SECCIÓN 9 GENÉTICA MÉDICA X. Estivill Pallejà, V. Volpini Bertrán, M. Milà Recasens, F. Real Arriba
    www.slideshare.net/acastillop/genetica-medica
  • METABOLITEN
    B-Mutationsanalys av PAH-genen. Lars Hagenfeldt. 5. de flesta ... A322G. L348V. IVS10nt1. Y356X. delL364. Y386C. A395G. A403V. R408W. D415N. Det är svårt att få ...
    karolinska.se/upload/labmedicin/.../bilder2/metaboliten1.pdf
  • OMIM: 612349
    RNase protection assays confirmed PAH expression in liver and kidney. ... that the A322G mutant had about 75% and the R408Q mutant about 55% of the wildtype PAH enzyme activity. ...
    www.genome.jp/dbget-bin/www_bget?omim+612349

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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