Figure 2.

Site of the c-Cbl mutations and predicted product of splice variant in the intron 8 splice acceptor site. (A) Localization of the c-Cbl mutations within the predicted protein product. Red arrows show the site of mutations in exon, and blue arrows show the site of splice variant. (B) In patient 48, a homozygous mutation was seen in the intron 8 splice acceptor site of c-Cbl. According to http://genome.cbs.dtu.dk/services/NetGene2,³⁴ this mutation may result in a splice variant, leading to a shorter transcript in RF domain.