Figure 2. Representation of CSB protein and domains. Acidic region (A), nuclear localization signal (N), helicase motifs (I, Ia -VI) and ubiquitin binding domain (UBD). (A) Homozygous mutations are indicated: frameshifts and nonsense mutations are indicated above the protein, while deletions and missense mutations are indicated below the protein. (B) Represents heterozygous mutations.
