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Literature summary for 3.2.1.25 extracted from

  • Sabourdy, F.; Labauge, P.; Stensland, H.; Nieto, M.; Garcés, V.; Renard, D.; Castelnovo, G.; de Champfleur, N.; Levade, T.
    A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: A possible pseudodeficiency variant (2009), BMC Med. Genet., 10, 84.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine mutation c.1922G>A, i.e. R641H, natural mutant identified in a patient with beta-mannosidisis. Patient is homozygous for the mutation, which leads to a residual activity of about 7% in the patient's leukocytes, 11% in lymphoblasts and 14% in plasma. Expression in transfected cells also results in 7% residual activity Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression in HEK-293T cell Homo sapiens

Protein Variants

Protein Variants Comment Organism
R641H natural mutant identified in a patient with beta-mannosidisis. Patient is homozygous for the mutation, which leads to a residual activity of about 7% in the patient's leukocytes, 11% in lymphoblasts and 14% in plasma. Expression in transfected cells also results in 7% residual activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
patient with beta-mannosodosis, an inborn lysosomal storage disorder
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte peripheral blood leukocyte Homo sapiens
-