Table 3

FBN1 mutations in data set 1

Sample		Exon	Mutation	Predicted consequence	Reference
*S, sporadic; F, familial.
†Mutation was not detected in the present study.
1	F*	4	c.364C>T	R¹²²C	33
2	F	6	c.649T>G	W²¹⁷G	34
3	S	11	c.1468G>T	48 bp deletion	35
4	F	21	c.2668T>C	C⁸⁹⁰R	36
5	F	24	c.2980G>T	E⁹⁹⁴X	37
6	S	25	c.3143C>T	I¹⁰⁴⁸T	38
7	S	26	c.3220T>C	E¹⁰⁷⁴R	5
8	S	27	IVS27+1G>A	Exon skipping	37
9	F	29	c.3599A>G	E¹²⁰⁰G	23
10	S	29	c.3603–3662del60-bp	Del 1202–1221	38
11	S	30	c.3725G>A	C¹²⁴²Y	5
12	F	52	c.6381T>A	D²¹²⁷E	5
13	F	52	c.6453C>G	D²¹⁵¹W	5
14	F	59	c.7339G>A	E²⁴⁴⁷K	32
15	F	60–62	Del exon 60–62	Del 2486–2851†	22
16	S	60	c.7531T>C	C²⁵¹¹R	5
17	F	63	c.7879G>A	G²⁶²⁷R	34