Figure 2. Mutations identified in Family 020001 and Family 020021.

(a) Sequence chromatograms showing the identified mutations and their wild type form. (b) Schematic representation of the linear location of our identified PRPF3 mutations and previously reported mutations (red star) in context of genome (upper) and protein (below). (c) Orthologous protein sequence alignment of PRPF3 from human (H. sapiens), chimpanzees (P. troglodytes), cattle (B. taurus), Chicken (G. gallus), Norway rat (R. norvegicus), house mouse (M. musculus), African clawed frog (X. laevis), zebra fish (D. rerio), yeast (S. cerevisiae), and Pombe yeast (S. pombe). Completely conserved residues across all species aligned are shaded with black. Residues boxed in red show the conservation of residues identified mutations in this study.