PYGL N376K - GET-Evidence

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

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Curation:
Currentness:

PYGL N376K

(PYGL Asn376Lys)


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
 

    Web search results (20 hits -- see all)
  • Mutations in the Liver Glycogen Phosphorylase Gene (PYGL ...
    mutations in PYGL, the gene encoding the liver isoform. of glycogen phosphorylase, in ... N338S and N376K, both cause nonconservative replace- ments of amino ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Mutations in the liver glycogen phosphorylase gene (PYGL ...
    Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. ... Our findings demonstrate that PYGL mutations cause Hers disease, and ...
    www.ncbi.nlm.nih.gov/pubmed/9529348
  • Mutations in the liver glycogen phosphorylase gene (PYGL ...
    Deficiency of glycogen phosphorylase in the liver gives rise to glycogen-storage disease type VI (Hers disease; MIM 232700)
    www.medscape.com/medline/abstract/9529348
  • Mutations in the liver glycogen phosphorylase gene (PYGL ...
    Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. ... N376K, both cause nonconservative replacements of amino acids that ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1377030
  • AJHG - Autosomal Recessive Phosphorylase Kinase Deficiency in ...
    Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Un... of the PYGL coding sequence, sequence polymorphisms, and a partial PYGL gene structure ...
    www.cell.com/AJHG/abstract/S0002-9297(07)64317-1
  • Medline ® Abstract for Reference of 'Liver phosphorylase ...
    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=1
  • Yeasts
    22, 4300-4306} and examined experimentally by chemical and enzymatic ... 269, 22902-22906} . The results suggest that most regions of the tRNA other than ...
    www.bionewsonline.com/x/1/fungi_yeast_t.htm
  • Mutations in the liver glycogen phosphorylase gene ( PYGL ...
    Our findings demonstrate that PYGL mutations cause Hers disease, and ... of the PYGL coding sequence, sequence polymorphisms, and a partial PYGL gene ...
    www.ihop-net.org/UniPub/iHOP/pm/1435249.html?pmid=9529348
  • WikiGenes -
    The world's first wiki where authorship really matters. Due credit and reputation for ... of the PYGL coding sequence, sequence polymorphisms, and a partial PYGL gene structure ...
    www.wikigenes.org/e/ref/e/9529348.html
  • B6db references : 98198336
    B6db, Activities - Families - Sequences of B6-dependent enzymes ... report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen ...
    bioinformatics.unipr.it/cgi-bin/bioinformatics/...?98198336

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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