Figure 3. Mapping the
NRL mutation spectrum onto the protein sequence. The domains in the 237 amino acid NRL protein are indicated. NRL mutations identified
in dominant disease [
15,
16,
25-
29] are presented in purple text above the protein domain representation, and recessive disease [
16,
20-
23] are shown in brown text below the illustration. The novel mutations described in this paper are highlighted in red in the
diagram.