Table 2.

Sequence Variations

Gene	Gene Locationa	cDNA Locationb	Effect on Proteinc	rs Numberd	Allele Frequency Ranged,e
C22orf28	g.3571A→G	c.172+77A→G	-	rs2076044	0.15–0.53
	g.3580C→T	c.172+86C→T	-	rs2076043	0.67–0.90
	g.3923C→T	c.173-84C→T	-	rs5754073	0.67–0.90
	g.17233T→G	c.1179+10T→G	-	rs2072818	0.48–0.79
	g.20160A→T	c.1410+151T→G	-	rs5994562	0.09–0.54
FBXO7	g.677T→G	c.122+272T→G 1	p.L12R 2	rs8137714	-
		c.35T→G 2
	g.736C→A	c.122+331C→A 1	-	rs8140067	0.1–22
		c.37+57C→A 2
	g.4484G→A	c.343G→A 1	p.M115I 1	rs11107	0.36–0.68
		c.233G→A 2	p.M36I 2
	g.16292T→C	c.872-75T→C1	-	rs738982	0.36–0.68
		c.635-75T→C2
	g.16444C→T	c.949C→T 1	p.L317L 1	rs9726	0.36–0.68
		c.712C→T 2	p.L238L 2
	g.18550C→G	c.1132C→G 1	p.R378G 1	ss99938574	NA
		c.895C→G 2	p.R299G 2
SYN3	g.75518C→A	c.461+209C→A IIIa,IIIc	-	rs183588	0–0.12
	g.477951G→C	c.1230+128G→C IIIa,IIIc	-	rs135123	0.1–0.19
	g.493006C→T	c.∗1C→T IIIa	-	ss99938576	NA
		c.∗118C→T IIIc	-

Putative disease-associated variation is shown in bold. NA, not available.

^aGene positions in C22orf28, FBXO7, and SYN3 are, respectively, with reference to sequences NT_011520.11 (nucleotides 12198804-12174138), NT_011520.11 (nucleotides 12261276-12285387), and NT_011520.11 (nucleotides 12793252-12299109).

^bcDNA positions in C22orf28 are with reference to sequence NM_014306.3. cDNA positions in FBXO7 are with reference to sequence NM_012179.3 for isoform 1 and and sequence NM_001033024.1 for isoform 2. cDNA positions in SYN3 are with reference to sequence NM_003490.2 for isoform IIIa and sequence NM_133633.1 for isoform IIIc.

^cProtein positions in F-box only protein 7 are with reference to sequence NP_036311.3 for isoform 1 and sequence NP_001028196.1 for isoform 2. Superscripts of cDNA and amino acid variations refer to respective isoforms.

^dNCBI Build 36.2 was used to obtain all reference sequences.

^eRange of frequency of the varied alleles observed in pedigree reported for populations of HapMap project. No sequence variations were observed in sequenced regions of gene TIMP3.