Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of two intronic polymorphisms and a nonsense mutation in the enzyme gene of 50 unrelated French individuals. The nonsense mutation Y85Stop likely results in a severely truncated protein without enzymatic activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
identification of functional genetic polymorphisms | - |