Protein Variants | Comment | Organism |
---|---|---|
L236N/V237E/M239K | the mutation is associated with congenital adrenal hyperplasia | Homo sapiens |
additional information | deletions/conversions involving the promoter region of the CYP21A2 gene (IVS2-12C/A>G, F306-L307insT) are associated with congenital adrenal hyperplasia | Homo sapiens |
P30L | the mutation is associated with congenital adrenal hyperplasia | Homo sapiens |
Q318X | the mutation is associated with congenital adrenal hyperplasia | Homo sapiens |
R356W | the mutation is associated with congenital adrenal hyperplasia | Homo sapiens |
V281L | the mutation is associated with congenital adrenal hyperplasia | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P08686 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|
Synonyms | Comment | Organism |
---|---|---|
21-hydroxylase | - |
Homo sapiens |