Figure 1. Pathogenic mutations in APP.

Amino acids highlighted in red are known to be pathogenic. The newly discovered mutation affecting cleavage at the β′-site is highlighted in grey. Cleavage sites for different secretases are indicated. Note that the γ-secretase cleaves APP at multiple sites starting between amino acid 718 and 719 and then proceeding towards 709 and 710. Modified from http://www.alzforum.org/res/com/mut/app/diagram1.asp, courtesy of Richard Crook and the Alzheimer Research Forum.