Protein Variants | Comment | Organism |
---|---|---|
additional information | mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 identified in a female patient results in complete loss of enzyme activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
female patient with enzyme deficiency | - |