The CYP21 mutation browser can be used to predict consequences of mutations. When selecting a mutation, you will be presented with information that can be used to estimate if the mutation affects the stability and / or activity of the protein. In addition, a value will be given which represents a rough overall estimation of severity. Based on mutations where clinical associations and/or in vitro activities are known, reliability of this severity prediction is around 94% (89% on severe mutations and 100% on non-severe mutations).
Reference: Robins, T., Carlsson, J., et. al., Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations using congenital adrenal hyperplasia. Mol Endocrinol, 2006. 20(11): p. 2946-64
Please select a position in the field below, and the mutated amino acid. The mutated position
will show in red in the 3D structure (based on PDB id 2GEG). Hold down the left mouse button in order to rotate the
picture, right-click to view full jsmol menue. Once position and mutation is chosen, a table
with the effects of the mutation will appear.
){kind=link}