Protein Variants | Comment | Organism |
---|---|---|
I171N | mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity | Homo sapiens |
L446P | mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity | Homo sapiens |
R341P | mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity | Homo sapiens |
R426H | mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Italian patients with congenital adrenal hyperplasia | - |