PHKG2 G189E - 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:

PHKG2 G189E

(PHKG2 Gly189Glu)


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 (13 hits -- see all)
  • Mutations in the testis/liver isoform of the phosphorylase ...
    We found homozygous PHKG2 mutations in three human patients of consanguineous ... The findings suggest that the PHKG2 gene product is the predominant ...
    www.ncbi.nlm.nih.gov/pubmed/8896567
  • Medline ® Abstract for Reference of 'Phosphorylase b kinase ...
    UpToDate, electronic clinical resource tool for physicians and patients that provides information on Adult Primary Care and Internal Medicine, Allergy and ...
    uptodate.com/patients/content/abstract.do?...&refNum=6
  • Nature Genetics
    We found homozygous PHKG2 mutations in three human patients of consanguineous ... The findings suggest that the PHKG2 gene product is the predominant ...
    www.nature.com/ng/wilma/v14n3.868387332.html
  • Mutations in the testis/liver isoform of the phosphorylase ...
    We found homozygous PHKG2 mutations in three human patients of consanguineous ... The findings suggest that the PHKG2 gene product is the predominant ...
    www.nature.com/ng/journal/v14/n3/abs/ng1196-337.html
  • PubMed: 8896567
    We found homozygous PHKG2 mutations in three human patients of consanguineous ... The findings suggest that the PHKG2 gene product is the predominant ...
    www.genome.jp/dbget-bin/www_bget?pubmed+8896567
  • Glycogen Storage Disease :: genetics
    BioInfoBank Library :: Glycogen Storage Disease :: genetics :: Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K ...
    lib.bioinfo.pl/meid:58119
  • OMIM: 172471
    The positions of introns were highly conserved between PHKG2 and PHKG1. ... in the PHKG2 gene that led to a gly189-to-glu (G189E) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+172471
  • Søvik, O (O)
    Søvik, O (O) :: 3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency. ...
    lib.bioinfo.pl/auid:739733
  • EC 2.7.11.19 - phosphorylase kinase
    mutations in PHKG2, the catalytic gamma subunit, are associated with an ... Mutation V106E, G189E and D215N are responsible for autosomal form of Phk deficiency ...
    brenda-enzymes.org/php/...&OrganismID=247&ShowAll=True

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in