Protein Variants | Comment | Organism |
---|---|---|
A280V | natural mutant from patient with primary hyperoxaluria type 1, 92% of normal enzyme activity | Homo sapiens |
G161R | natural mutant from patient with primary hyperoxaluria type 1, 6.2% of normal enzyme activity | Homo sapiens |
I279T | natural mutant from patient with primary hyperoxaluria type 1, 98% of normal enzyme activity | Homo sapiens |
additional information | analysis of additional mutations | Homo sapiens |
S218L | natural mutant from patient with primary hyperoxaluria type 1, 10% of normal enzyme activity | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
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Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P21549 | patients with primary hyperoxaluria type 1 | - |
Source Tissue | Comment | Organism | Textmining |
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