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. 2022 Nov 9;10(5):2013–2028. doi: 10.1016/j.gendis.2022.10.014

Figure 4.

Fig. 4

Alternative splicing of SUFU in MB. (A) All 13 coding exons of the SUFU gene are indicated by numbered boxes. (B) The mutation at the splice-acceptor site leads to the splicing of exon 1 to exon 4 with a subsequent frameshift and premature stop codon at the 3′ end of exon 1. (C) The mutation at the splice-acceptor site leads to the splicing of exon 1 to exon 4 with a subsequent frameshift and premature stop codon at the 3′ end of exon 1. (D) Mutation in the conserved GT splice-donor site consensus sequence of exon 8 leads to splicing of exon 7 to exon 9 with a subsequent frameshift and premature stop. (E) SUFU-ΔC harbors an early in-frame translation termination codon exon 10a.