Structure of the human RAG1 protein and localization of missense mutations causing OS.

Mutations are from Villa and colleagues38 (black on gray), Wada and coworkers39 (white on black), and this report (black on white). All the mutations are located within the active core (amino acids 384-1009) of the protein and some of them involve the homeodomain or one of the RAG2 interaction domains.49 Many of the mutations map close to the 3 acidic residues (DDE) defining the catalytic site of RAG1.