Table 2 |
|||||||||||
|
Nucleotide variants detected in the human OAZ3 gene |
|||||||||||
|
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 |
|||||||||||
|
Christensen et al. BMC Medical Genetics 2006 7:27 doi:10.1186/1471-2350-7-27 |
|||||||||||
