Protein Variants | Comment | Organism |
---|---|---|
I172N | the mutation is associated with congenital adrenal hyperplasia | Homo sapiens |
additional information | an insertion (duplication) of 9-bp in exon 2 results in addition of three valine residues at codon 71 of the P450c21 protein lowering the structural stability of P450c21 thereby leading to the probable loss of its function | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P08686 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
21-hydroxylase | - |
Homo sapiens |
P450c21 | - |
Homo sapiens |