Literature summary for 5.4.2.11 extracted from

Repiso, A.; Ramirez Bajo, M.J.; Corrons, J.L.; Carreras, J.; Climent, F.
Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies (2005), Haematologica, 90, 257-259.

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Application

Application	Comment	Organism
medicine	mutation M230I identified in a patient with non-spherocytic anemia. Enzyme activity is reduced by 50%, with normal levels of enzyme protein. Mutation results in decrease of glycolytic metabolites, with the exception of hexose phosphates. In contrast, lactate levels are increased	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
M230I	mutation identified in a patient with non-spherocytic anemia. 50% reduction of enzyme activity, with normal levels of enzyme protein. Mutation results in decrease of glycolytic metabolites, with the exception of hexose phosphates. In contrast, lactate levels are increased	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	BB isoenzyme deficiency in a patient with non-spherocytic anemia	-

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Release 2023.1 (January 2023)