Mutations in OTCase
The following model of OTCase is displayed using an open-source
java application, Jmol,
that allows interactive visualization of protein structures. It may
take a little time to load. You can use the mouse to click and drag
to rotate the molecule. If you are familiar with Rasmol/Chime
commands, you can right-mouse click (Control-click on Mac) on the
image to bring up a console menu. If you have a scroll wheel on
your mouse, you can zoom in and out
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Click on a molecule to display the monomer or trimer
(Backbone model is a good view to use for visualizing mutations)
Clicking on Active site will show where PALO binds.
Fancy dissolve and spin
Mutations
Click to show the locations of missense mutations.
Neonatal
Late onset
Female
Adjust the size of spheres |