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Literature summary for 2.4.1.11 extracted from

  • Soggia, A.P.; Correa-Giannella, M.L.; Fortes, M.A.; Luna, A.M.; Pereira, M.A.
    A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 (2010), BMC Med. Genet., 11, 003.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine mutation R243X has been identified in a patient with glycogen storage disease type 0, together with frameshift mutation 966_967delGA/insC introducing a stop codon 21 amino acids downstream from the site of the mutation and leading to loss of 51% of the C-terminal portion of the protein. Patient is heterozygous for the mutations and presents with fasting hypoglycemia and postprandial hyperglycemia Homo sapiens

Protein Variants

Protein Variants Comment Organism
R243X mutation identified in a patient with glycogen storage disease type 0, together with frameshift mutation 966_967delGA/insC introducing a stop codon 21 amino acids downstream from the site of the mutation and leading to loss of 51% of the C-terminal portion of the protein. Patient is heterozygous for the mutations and presents with fasting hypoglycemia and postprandial hyperglycemia Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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patient with glycogen storage disease type 0
-