Figure 2

Mutations in IDH1 , BAP1 and CTNNB1 . (A) IDH1 is mutated in two patients at the hotspot R132. (B) BAP1 mutation in two patients. Patient 3885 has a D184V mutation, a site that is important for the peptidase enzymatic activity (by homology). The other patient (9113) carries two mutations, including a point mutation, R237C, and a frameshift deletion at position 354. (C) An in-frame deletion in CTNNB1 in patient 30147. The deletion spans 121 amino acids near the amino-terminal. This region is involved in the degradation of β-catenin and is frequently mutated in cancer, as shown by clustering of mutations in this region in the COSMIC database. Each green box is a mutation instance in COSMIC. Overlapping, unique mutations have been stacked.