| Table 3 . Findings from the variants with the sequencing of the genes DBY, RBMY, DAZ, DAZL, CDY and BPY2. Details of variants found in the sequencing of the genes involved in spermatogenesis. In cases of deletion and/or insertion, the specific amino acid where the reading frame shift is generated. (NC_00024.9). All variants found are not reported in the international literature. | |||||
| GENE | PATIENT | CHROMOSOME POSITION (pb) | FUNCTION | db SNP ALLELES | PROTEIN RESIDUE |
|
DAZ2 |
5 |
25338454 |
Reading frame shift INSERT |
A |
Tyr [Y] Ser [S] |
|
DAZ3 |
5 |
26952837 |
Reading frame shift INSERT |
A |
Tyr [Y] Ser [S] |
| RBMY | 3 |
23710770 |
Non-synonymous reference |
T A |
Phe [F] Ile [I] |
| 15 | 23710816 |
Non-synonymous reference |
C G |
Phe [F] Ile [I] |
|
| 15 | 23710848 |
Non-synonymous reference |
C G |
Leu [L] Val [V] |
|
| CDY | 1 | 27770162 |
Non-synonymous reference |
C G |
Thr [T] Arg [R] |
|
1 |
27770151 |
Reading frame shift INSERT |
C |
Gly [G] - Ser [S] Gly [G] - ALA [A] |
|
|
1 |
27770157 |
Reading frame shift INSERT |
T |
Ser [S] Gln [Q] |
|
|
1 |
27770156 |
Reading frame shift DELETION |
A-G |
Ser [S] Gln [Q] |
|
|
3 - 7 - 17 - 21 - 23 - 24 |
27770161 |
Non-synonymous reference |
G A |
Gly [G] Arg [R] |
|
|
21 |
27770160 |
synonymous reference |
A C |
Pro [P] Pro [P] |
|
|
11 - 20 - 22 |
27770157 |
Reading frame shift DELETION |
G |
His [H] Gln [Q] |
|
| DAZL |
10 |
16635718 |
Non-synonymous reference |
T G |
Ile [I] Ser [S] |
|
12 - 18 |
16635641 |
synonymous reference |
A G |
[Ter[*]] [Ter[*]] |
|
|
12 |
16635747 |
Non-synonymous reference |
C G |
Pro [P] Ala [A] |
|
|
18 |
16635636 |
Non-synonymous reference |
A G |
Asn [N] Asp [D] |
|
|
18 |
16635673 |
Non-synonymous reference |
A G |
Lys [K] Arg [R] |
|
|
18 |
16635678 |
Non-synonymous reference |
A G |
Lys [K] Glu [E] |
|
|
18 |
16635757 |
Non-synonymous reference |
A G |
Lys [K] Arg [R] |
|
|
18 |
16635644 |
Non-synonymous reference |
T G |
Asn [N] Lys [K] |
|
|
18 |
16635656 |
Non-synonymous reference |
T G |
Tyr [Y] [Ter[*]] |
|
|
18 |
16635662 |
Non-synonymous reference |
T G |
Cys [C] Trp [W] |
|
|
18 |
16635666 |
Non-synonymous reference |
T A |
Cys [C] Ser [S] |
|
|
18 |
16635692 |
Non-synonymous reference |
C A |
Cys [C] [Ter[*]] |
|
|
18 |
16635719 |
Non-synonymous reference |
G T |
Arg [R] Ser [S] |
|
|
18 |
16635671 |
synonymous reference |
G A |
Glu [E] Glu [E] |
|
|
18 |
16635695 |
synonymous reference |
C G |
Ser [S] Ser [S] |
|
|
25 |
16635681 |
Non-synonymous reference |
A G |
Asn [N] Asp [D] |
|
|
25 |
16635695 |
synonymous reference |
A G |
Ser [S] Ser [S] |
|