Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3

Christensen, Greg L; Ivanov, Ivaylo P; Wooding, Stephen P; Atkins, John F; Mielnik, Anna; Schlegel, Peter N; Carrell, Douglas T

doi:10.1186/1471-2350-7-27

Table 2 Nucleotide variants detected in the human OAZ3 gene

From: Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3

Variant Number	Region	Nucleotide change	Amino acid change	NCBI	Allele frequency Infertile		Allele frequency Fertile			Allele frequency African
1	Promoter	-239 A – G	-	NEW	[A] .997	[G] .003	[A] 1	[G] 0		-
2	Intron 2	1079 A – G	-	rs12066445	[A] .66	[G] .34	-			-
3	Intron 3	2992 G – C*	-	rs11204884	[G] .99	[C] .01	-			-
4	Intron 3	3043 A – G	-	NEW	[A] .99	[G] .01	-			-
5	Intron 3	3068 G – A	-	rs6667249	[G] .35	[A] .65	[G] .33	[A] .67		[G] .23	[A] .77
6	Intron 3	3079 C – 0	-	NEW	[C] .65	[DEL] .35	[C] .67	[DEL] .33		[C] .81	[DEL] .19
7	Intron 3	3153 A – G	-	RS4995159	[A] .51	[G] .49	[A] .48	[G] .52		[A] .81	[G] .19
8	Intron 3	See Figure 1	-	NEW**	[Long] .51	[Short] .49	[Long] .49	[Short] .5	[DEL] .01	[Long] .76	[Short] .24
9	Intron 3	3280 T – A	-	NEW	[T] .997	[A] .003	[T] 1	[A] 0		[T] 1	[A] 0
10	Intron 4	3420 T – G	-	NEW	[T] .994	[G] .006	[T] 1	[G] 0		[T] .94	[G] .06
11	Intron 4	3427 T – G	-	NEW	[T] .997	[G] .003	[T] 1	[G] 0		[T] 1	[G] 0
12	Intron 4	3457 T – C	-	rs3748612	[T] .65	[C] .35	[T] .65	[C] .35		[T] .86	[C] .14
13	Intron 4	3595 G – T	-	NEW	[G] 1	[T] 0	[G] 1	[T] 0		[G] .96	[T] .04
14	Intron 4	3619 G – A	-	rs1781424	[G] .52	[A] .48	[G] .49	[A] .51		[G] .75	[A] .25
15	Intron 4	3710 A – G	-	NEW	[A] 1	[G] 0	[A] 1	[G] 0		[A] .98	[G] .02
16	Intron 4	3735 C – T	-	NEW	[C] 1	[T] 0	[C] 1	[T] 0		[C] .98	[T] .02
17	Intron 4	3802 C – T	-	rs1781423	[C] .52	[T] .48	[C] .49	[T] .51		[C] .77	[T] .23
18	Intron 4	3934 T – G	-	rs6673002	[T] .91	[G] .09	[T] .88	[G] .12		[T] .61	[G] .39
19	Intron 4	4023 C – A	-	rs1781420	[C] .52	[A] .48	[C] .49	[A] .51		[C] .75	[A] .25
20	Exon 5	4280 C – T	P164S	NEW	[C] .997	[T] .003	[C] 1	[T] 0		[C] 1	[T] 0
21	3' UTR	4394 A – C	-	NEW	[A] 1	[C] 0	[A] 1	[C] 0		[A] .95	[C] .05
22	3' UTR	4487 G – C	-	NEW	[G] .99	[C] .01	[G] 1	[C] 0		[G] 1	[C] 0
23	3' UTR	4531 A – 0	-	rs3833528	[A] .52	[DEL] .48	[A] .49	[DEL] .51		[A] .72	[DEL] .28

* NCBI database shows a G/A SNP
** NCBI shows two SNPs within the alternate region, rs4995158, rs12750154

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ISSN: 1471-2350

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