PHGDH V490M - GET-Evidence

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

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Curation:
Currentness:

PHGDH V490M

(PHGDH Val490Met)


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: 0.028 (benign)
    Web search results (32 hits -- see all)
  • V490M, a common mutation in 3-phosphoglycerate dehydrogenase ...
    V490M, a common mutation in 3-phosphoglycerate dehydrogenase ... The V490M PHGDH yielded less than 35% of the activity observed for the wild-type enzyme when overexpressed by ...
    www.ncbi.nlm.nih.gov/pubmed/11751922
  • Molecular Characterization of 3-Phosphoglycerate ...
    3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine ... matic activity of PHGDH, the V425M and V490M mu- tations were ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Human leukocyte acid hydrolases: characterization of eleven ...
    The V490M PHGDH yielded less than 35% of the activity observed for the wild-type ... While others have proposed that the V490M mutation decreases the V(max) of the ...
    lib.bioinfo.pl/pmid:8226
  • Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH ...
    Only two missense mutations (p.V425M and p.V490M) have been identified in PHGDH, the gene encoding 3-PGDH, but it is currently unclear how these ...
    www.ncbi.nlm.nih.gov/pubmed/19235232
  • PHGDH Antibody Review
    It is aimed to help Labome visitors find the most suited PHGDH antibody. ... V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by ...
    www.labome.com/review/PHGDH.html
  • Phosphoglycerate dehydrogenase - Wikipedia, the free encyclopedia
    V490M, a common mutation in 3-phosphoglycerate dehydrogenase ... Assignment of human 3-phosphoglycerate dehydrogenase (PHGDH) to human chromosome band 1p12 by fluorescence in ...
    en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase
  • D-3-phosphoglycerate dehydrogenase - Homo sapiens (Human)
    Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] ... "V490M, a common mutation in 3-phosphoglycerate dehydrogenase ...
    www.uniprot.org/uniprot/O43175
  • An essential role for de novo biosynthesis of
    In rodent brain, Phgdh is expressed exclusively by the neuroepithelium/radial ... type of Phgdh knockouts indicates that L-serine must be synthesized endogenously ...
    apjcn.nhri.org.tw/.../Volume17/vol17suppl.1/312-315S18-5.pdf
  • EC 1.1.1.95 - phosphoglycerate dehydrogenase
    very high expression of Phgdh. It is shown that Phgdh is distributed highly in the renal ... V490M, a common mutation in 3-phosphoglycerate dehydrogenase ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=1.1.1.95
  • MIC-Metabolic Information Centre
    Introduction Pocket Metab Impressum ··· Diseases ··· Symptoms ··· Lab ... Stanley CA Chronic cardiomyopathy and weakness or acute coma in children with a ...
    www.metagene.de/program/a.prg?vt=al.

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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