Application | Comment | Organism |
---|---|---|
medicine | identification of point mutations and minor deletions resulting in primary hyperoxaluria type 2 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G165D | mutation identified in patient with primary hyperoxaluria type 2, about 1.5% residual enzymic activity, enzyme is unstable upon purification | Homo sapiens |
additional information | identification of point mutations and minor deletions resulting in primary hyperoxaluria type 2 | Homo sapiens |
R302C | mutation identified in patient with primary hyperoxaluria type 2, about 5.6% residual enzymic activity, enzyme is unstable upon purification | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patients with primary hyperoxaluria type 2 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |