Literature summary for 5.4.2.8 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.

Search for more literature for 5.4.2.8

Cloned(Commentary)

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

Protein Variants

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O15305	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

Synonyms	Comment	Organism
phosphomannomutase 2	-	Homo sapiens
PMM-2	-	Homo sapiens

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Release 2023.1 (January 2023)