Figure 3.

Distribution and function of mutations in the CCM2 gene. (A) Schematic representation of four CCM2 gene mutations identified in the domains of CCM2-coding protein in the studied Chinese family with FCCM. (B) A novel frameshift mutation in exon 2 of the CCM2 gene. This deletion (c.95 delC), located in exon 2, was heterozygous in both siblings with CCMs. It resulted in a stop codon in the 36th original codon and produced a 35-amino acid, truncated form of CCM2, without the PTB domain and all of the C-terminal domains.