Figure 1. Schematic diagram representing the structural domains of the RB1 protein, along with 27 exons, and representing the localization
of the identified mutations in the retinoblastoma (Rb) cohort. The novel mutations identified in our study are indicated by
red arrows and known mutations are marked by yellow arrows. Among the 29 unique mutations identified in 33 patients in our
Rb cohort, 16 mutations are located in the region encoding for the A/B pocket domain and five mutations are located in the
cyclin domain of the RB1 protein. We identified six large deletions in our cohort, but two whole gene deletions are not shown
in the representation; the other four deletions are indicated by red bars. Note: *partial deletion of exon 25 with complete
deletion of exons 26–27 and 3′UTR (untranslated region).