Table 1.

CCM3 mutations

Exons	Mutation (NM_007217)	Effect on splicing (cDNA analysis)	Theoretic effect on the protein	Family number	Reported in other families
01 – 02	deletion of exons 1 – 2		absence of protein synthesis	C085
01 – 03	deletion of exons 1 – 3		absence of protein synthesis	C270
01 – 10	whole gene deletion		absence of protein synthesis	C024 C045a C052a C146a C224 C399c C474 C556	Liquori et al. [2008]
03 – 04	deletion of exons 3 – 4		absence of protein synthesis	C518
04	c.81delT		p.P28LfsX6	C436
05	c.97-2A>G	exon 5 deletion	p.L33_K50del	C601
05	c.103C>T		p.R35X	C055a C377 C446	Lee et al. [2008]
05	c.113_114delGT		p.S39CfsX13	C211a
05	c.129_138 del		p.R45SfsX17	C560
05	deletion of exon 5		p.L33_K50del	C043a
06	c.151-1G>C	exon 6 deletion	p.A51SfsX3	C523
06	c.175dupA		p.T59NfsX17	C594
06	c.196delA				Guclu et al. [2005]
06	c.212insA		p.K71Xfs	C304
06	c.223delA				Guclu et al. [2005]
06	c.268 + 1dupG	several transcripts		C474
07	c.269-1G>A	exon 7 deletion	p.E90GfsX3	C493
07	c.275delT		p.M92Xfs	C418
07	c.283C>T		p.R95X	C254a C589	Guclu et al. [2005]; Verlaan et al. [2005]
07	c.322C>T		p.R108X	C571 C467 C313
07	c.372_73delAG		p.R124Xfs	C357
07	c.385C>T		p.Q129X	C031a
07	c.394_395delinsGATT	exon 7 deletion	p.E90GfsX3	C615
08–10	deletion of exons 8 – 10			C433
08	c.396-31_396-13delinsA	exon 8 deletion	p.D133HfsX10	C596
08	c.396-3C>G	exon 8 deletion	p.D133HfsX10	C238a
08	c.396-2A>G				Verlaan et al. [2005]
08	c.401_402dupTA		p.A135X	C070a
08	c.418G>T		p.D133HfsX10	C502
08	c.456T>G		p.Y152X	C128a
08	c.474 + 1G>A				Liquori et al. [2006]
08	c.474 + 1G>C			C327
08	c.474 + 2T>C	exon 8 deletion	p.D133HfsX10	C223a
08	c.474 + 5G>A	exon 8 deletion	p.D133HfsX10	C158b C189	Liquori et al. [2006]
09	c.475-1G>A	exon 9 deletion	p.A159GfsX42	007a, b
09	c.496G>T		p.E166X	C319 C572
09	c.514A>T		p.K172X	C122
09	c.534delA				Guclu et al. [2005]
09	c.538delA		p.T180fs188X	C161b, d
09	c.557 + 1G>C		?	C141a
09	c.557 + 3_557 + 6del	exon 9 deletion		C044a
10	c.586C>T		p.R196X	C030a,b C077a C346 C520
10	c.608T>G		p.L203X		Gault et al. [2006]; Liquori et al. [2006]

^aPatients reported in Denier et al. [2006].

^bPatients reported in Labauge et al. [2009].

^cPatient reported in Choe et al. [2010].^d Patient reported in Ahdab et al. [2008].