Skip to main content
. 2013 Oct 30;22(8):1002–1011. doi: 10.1038/ejhg.2013.258

Figure 3.

Figure 3

Examples of predicted mutant ZMPSTE24 forms. Left panel—null mutations observed in RD patients; Right panel—missense mutations involved in milder progeroid syndromes. Antibody recognition site is indicated in red, endoplasmic reticulum retention signal is detailed in purple and catalytic site in blue characters. Protein sequences modified by frame-shift mutations are indicated in green.