Table 2.

Frequency of known and novel sequence variations in FBLN5 identified in this study compared to the literature

	Number of individuals screened for mutations in FBLN5		p.T48I	p.G90S	p.V126M	p.R373C	p.G267S
Controls	This study	317	0	0a	3	0	0b
	Stone et al., 2004	429	0	0	0	0	0
	Lotery et al., 2006	337	0	0	5	0	0
Patients with initial diagnosis of age-related macular degeneration	This study	300	1	2	3	0	2
	Stone et al., 2004	402	0	0	0	0	0
	Lotery et al., 2006	802	0	0	1	0	1
Patients with initial diagnosis of neuropathyc	This study	124	0	4	2	8	0
	Stone et al., 2004	NE	NE	NE	NE	NE	NE
	Lotery et al., 2006	NE	NE	NE	NE	NE	NE
Total		2711	1	6	14	8	3

^aAt this position 200 additional control individuals were tested.

^bDuring this study no control samples were tested at this position.

^cThree patients carrying the p.G90S FBLN5 variant and one patient carrying the p.V126M FBLN5 variant had hyperextensible skin.

NE = not examined.