PHGDH V425M - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PHGDH V425M

(PHGDH Val425Met)


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: 0.293 (possibly damaging)
    Web search results (10 hits -- see all)
  • Molecular Characterization of 3-Phosphoglycerate ...
    3-phosphoglycerate dehydrogenase (PHGDH) de´Čüciency 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
  • Molecular Characterization of 3-Phosphoglycerate ...
    To construct plasmids encoding PHGDH that contained the V425M and V490M mutations, total ... When expressed in vitro, PHGDH containing V425M and V490M mutations displayed ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1287916
  • 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
  • PubMed: 19235232
    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.genome.jp/dbget-bin/www_bget?pubmed:19235232
  • The copper connection.
    BioInfoBank Library :: The copper connection. [From gene to disease; Wilson ... missense mutations (p.V425M and p.V490M) have been identified in PHGDH, the gene encoding ...
    lib.bioinfo.pl/pmid:19566898
  • Successful treatment of severe carbamyl phosphate synthetase ...
    BioInfoBank Library :: Successful treatment of severe carbamyl ... Only two missense mutations (p.V425M and p.V490M) have been identified in PHGDH, the gene encoding 3-PGDH, ...
    lib.bioinfo.pl/pmid:6524951

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in