FIG 1. Distribution of BAP1 germline mutations in families with BAP1 cancer syndrome.5–7,10–14 Figure depicts BAP1 protein and various domains, with symbols indicating amino acids corresponding to frameshift, nonsense, and splice site mutation sites.
Abbreviations: ASXL1/2, additional sex combs-like proteins 1 and 2 interaction domain: BARD1, BRCA1-associated RING finger domain protein 1 interaction motif; BRCA1, BRCA1 interaction domain; HBM, HCF1-binding motif; NLS, nuclear localization signal: UCH, ubiquitin C-terminal hydrolase: ULD, UCH37-like domain.