TABLE 2.

ELASTIN VARIANTS IDENTIFIED BY DNA MELT

	Name	Position	Mutation	Location	rs Number	Cases	Control Subjects	PhastCons Score†
1	c.132+16	73087696	C→A	Intron 2		No	Yes	0.000
2	c.162+34	73088884	A→C	Intron 3		No	Yes	0.000
3	c.195+10	73090015	A→C	Intron 4		Yes	No	0.001
4	c.195+71	73090076	G→A	Intron 4	rs2301995	Yes	Yes	0.000
5	Gly109Asp	73095250	G→A	Exon 7		Yes	No	0.002
6	c.427+8	73095442	C→T	Intron 8		Yes	Yes	0.107
7	c.470−25	73097463	C→T	Intron 9	rs28424575	No	Yes	0.000
8	c.571+25	73098508	C→A	Intron 11		No	Yes	0.001
9	c.572−55	73098907	C→T	Intron 11		No	Yes	0.000
10	c.572−40	73098922	G→T	Intron 11		Yes	No	0.001
11	c.594	73098984	G→A	Exon 12		Yes	No	0.998
12	Gly216Val	73099944	G→T	Exon 13		Yes	No	1.000
13	c.686−76	73100332	G→A	Intron 13		No	Yes	0.001
14	Gly348Glu	73105522	G→A	Exon 18		No	Yes	0.738
15	Gly422Ser	73108650	G→A	Exon 20	rs2071307	Yes	Yes	0.001
16	c.1315+17	73108718	T→C	Intron 20	rs2856728	Yes	Yes	0.000
17	Ala495Thr	73109944	G→A	Exon 23		No	Yes	0.367
18	c.1501+24	73109986	C→T	Intron 23	rs28763986	Yes	Yes	0.000
19	c.1653	73112303	T→A	Exon 24		No	Yes	0.000
20	c.1664−22	73112384	C→T	Intron 24		No	Yes	0.000
21	Gly610Arg	73112761	G→C	Exon 26	rs17855988	Yes	Yes	0.056
22	c.1934−105	73113262	C→T	Intron 26		Yes	No	0.000
23	c.1972+22	73113427	T→C	Intron 27		No	Yes	0.000
24	c.2219−16	73118194	A→G	Intron 31		Yes	Yes	0.000
25	c.2272+5	73118268	G→C	Intron 32		No	Yes	0.318
26	c.2273−34	73118964	C→T	Intron 32	rs3757587	Yes	Yes	0.000
27	c.2318−29	73120894	C→G	Intron 33		No	Yes	0.001
28	Gly773Asp	73120923	G→A	Exon 34	rs41511151	Yes	No	0.994

Variants labeled according to reference in Tassabehji and coworkers (35), corresponding to P15502 (UniProtKB/Swiss-Prot). Position based on the March 2006 reference sequence (NCBI Build 36.1).

^†Pointwise PhastCons score (29).