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Literature summary extracted from

  • Vega, A.I.; Perez-Cerda, C.; Abia, D.; Gamez, A.; Briones, P.; Artuch, R.; Desviat, L.R.; Ugarte, M.; Perez, B.
    Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations (2011), J. Inherit. Metab. Dis., 34, 929-939.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
5.4.2.8 expressed in Escherichia coli BL21 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
5.4.2.8 C241S the mutant shows 60% residual activity the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 D209G inactive, the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 D65Y the mutant shows 20% residual activity the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 E197A the mutant has wild type activity Homo sapiens
5.4.2.8 F157S inactive, the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 F207S inactive, the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 L32R the mutant shows 45% residual activity the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 P113L the mutant shows 43% residual activity, the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 P184T inactive, the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 R123Q inactive, the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 R141H inactive, the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 T118S the mutant shows 1% residual activity the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 T237M the mutant shows 48% residual activity the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens
5.4.2.8 V44A the mutant shows 16% residual activity the mutation is associated with phosphomannomutase 2 deficiency Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
5.4.2.8 Homo sapiens O15305
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
5.4.2.8 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5.4.2.8 alpha-D-mannose 1-phosphate
-
 Homo sapiens alpha-D-mannose 6-phosphate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
5.4.2.8 phosphomannomutase 2
-
 Homo sapiens
5.4.2.8 PMM-2
-
 Homo sapiens