PAH A259V - 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.

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Curation:
Currentness:

PAH A259V

(PAH Ala259Val)


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: 0.999 (probably damaging)
    Web search results (34 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 ... so far on PAH and discusses some of the structural effects of the currently known ...
    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
  • IVE-Human
    PAHdb Advanced Search ... p.A259V. 5. p.G218V. 5. p.R68S. 5. p.R243Q. 4. p.EX6-96A>G. 4. p.L48S. 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 ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • 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
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.A259V. PAH. Phenylketonuria. p.A300S. PAH. Phenylketonuria. p.A309D. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • 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
  • 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
  • Partial characterization and three-dimensional-structural ...
    Partial characterization and three-dimensional-structural localization of eight ... of immunoreactive PAH protein was recovered in spite of normal PAH mRNA levels. ...
    www.ncbi.nlm.nih.gov/pubmed/9799096
  • 河南 开封市儿童医院 儿童疾病 小儿疾病 _苯丙酮尿症
    铁结合位点结构的保持与位于与活性位点相关的3D结构中的第349位的丝氨酸有关,这个位点的丝氨酸与PAH结构的稳定性聚合和PAH的催化性质也具重要性。 ... 即R252G/Q、L255V/S、A259V/T及R270S。 另外还有一种突变为G272X。 当将这些突变的PAH蛋白与麦芽糖酶以融合 ...
    www.kfetyy.com.cn/jiaoan/html/?461.html

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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