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 (Comment) | Organism |
---|---|
expression in HEK-293T cell | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patient with beta-mannosodosis, an inborn lysosomal storage disorder | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | peripheral blood leukocyte | Homo sapiens | - |