The CYP11B1 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 86% (76% on severe mutations and 100% on non-severe mutations).
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 4ZGX). 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.