459253.fig.002a
(a)
459253.fig.002b
(b)
459253.fig.002c
(c)
Figure 2: Identification of a mutation in exon 10 of CCM2 gene in a sporadic CCM patient. (a) At the top: partial wild-type sequence of exon 10 of CCM2 gene; at the bottom: partial mutated sequence of exon 10 of CCM2 gene showing the mutation c.1280 A>G (arrow) in heterozygous condition. (b) The D427 residue, highlighted in yellow in the figure, is highly conserved among species. (c) Web informatics tools used for the in silico analysis and prediction results.