Spermatogenic failure, susceptibility to.
OMIM:108420Mode of inheritance:Multifactorial
Disease classification:Diseases of the genitourinary system
Polymorphisms
| Gene symbol | MTHFR |
|---|
| Reference transcript | NM_005957.4 |
|---|
| DNA Change | c.665C>T |
|---|
| A.A. Change | p.Ala222Val |
|---|
| Exon/Intron | exon 4 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1801133 |
|---|
| Cases | 344 men with unexplained reduced sperm counts. |
|---|
| Controls | 690 controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 523 (76.02%) | 988 (71.59%) | | | | T | 165 (23.98%) | 392 (28.41%) | 0.7952 (0.6434-0.9807) | 0.03718 | | CC | 199 (57.85%) | 351 (50.87%) | | | | CT | 125 (36.34%) | 286 (41.45%) | 0.8064 (0.6167-1.052) | 0.1298 | | TT | 20 (5.81%) | 53 (7.68%) | 0.7421 (0.4279-1.251) | 0.3293 | | CT+TT | 145 (42.15%) | 339 (49.13%) | 0.7546 (0.5808-0.9794) | 0.04007 |
|
|---|
| Comments | No association of the C677T variant with infertility. |
|---|
| Reference | Eloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, Chadli E, Ajjemami M, Barakat A, Bashamboo A, McElreavey K, Rhaissi H, Rouba H.Association of the MTHFR A1298C variant with unexplained severe male infertility.
PLoS One. 2012;7(3):e34111. |
|---|
| Gene symbol | MTHFR |
|---|
| Reference transcript | NM_005957.4 |
|---|
| DNA Change | c.1286A>C |
|---|
| A.A. Change | p.Glu429Ala |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1801131 |
|---|
| Cases | 89 Severe Oligozoospermia |
|---|
| Controls | 690 controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 131 (73.60%) | 1043 (75.58%) | | | | C | 47 (26.40%) | 337 (24.42%) | 1.11 (0.773-1.577) | 0.6272 | | AA | 49 (55.06%) | 370 (53.62%) | | | | AC | 33 (37.08%) | 303 (43.92%) | 0.7529 (0.4735-1.184) | 0.2674 | | CC | 7 (7.86%) | 17 (2.46%) | 3.372 (1.27-8.238) | 0.01431 | | AC+CC | 40 (44.94%) | 320 (46.38%) | 0.9439 (0.603-1.472) | 0.8869 |
|
|---|
| Comments | The genotype CC was present at a statistically high significance in severe oligozoospermia group compared with controls. |
|---|
| Reference | Eloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, Chadli E, Ajjemami M, Barakat A, Bashamboo A, McElreavey K, Rhaissi H, Rouba H.Association of the MTHFR A1298C variant with unexplained severe male infertility.
PLoS One. 2012;7(3):e34111. |
|---|
| Gene symbol | PRM1 |
|---|
| Reference transcript | NM_002761.2 |
|---|
| DNA Change | c.-191C>A |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.8 | 0.84 | | NS | | A | 0.2 | 0.16 | | | | CC | 85 (63%) | 113 (71%) | | | | CA | 45 (33%) | 42 (26%) | | | | AA | 5 (4%) | 5 (3%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM1 |
|---|
| Reference transcript | NM_002761.2 |
|---|
| DNA Change | c.-107G>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.996 | 1.00 | | NS | | C | 0.004 | 0 | | | | GG | 134 (99%) | 160 (100%) | | | | GC | 1 (1%) | 0 | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM1 |
|---|
| Reference transcript | NM_002761.2 |
|---|
| DNA Change | c.54G>A |
|---|
| A.A. Change | p.Gln18Gln |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.99 | 0.985 | | NS | | A | 0.01 | 0.015 | | | | GG | 133 (99%) | 155 (97%) | | | | GA | 2 (1%) | 5 (3%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM1 |
|---|
| Reference transcript | NM_002761.2 |
|---|
| DNA Change | c.65G>A |
|---|
| A.A. Change | p.Ser22Asn |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.996 | 1 | | NS | | A | 0.004 | 0 | | | | GG | 134 (99%) | 160 (100%) | | | | GA | 1 (0%) | 0 | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM1 |
|---|
| Reference transcript | NM_002761.2 |
|---|
| DNA Change | c.139C>A |
|---|
| A.A. Change | p.Arg47Arg |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.32 | 0.33 | | NS | | A | 0.68 | 0.67 | | | | CC | 16 (12%) | 16 (10%) | | | | CA | 55 (41%) | 74 (46%) | | | | AA | 64 (47%) | 70 (44%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.-67C>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.996 | 1 | | NS | | T | 0.004 | 0 | | | | CC | 134 (99%) | 160 (100%) | | | | CT | 1 (1%) | 0 | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.87C>T |
|---|
| A.A. Change | p.His29His |
|---|
| Variation Type | others |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 1 | 0.997 | | NS | | T | 0 | 0.003 | | | | CC | 135 (100%) | 159 (99%) | | | | CT | 0 | 1 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.201C>T |
|---|
| A.A. Change | p.His67His |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 1 | 0.997 | | NS | | T | 0 | 0.003 | | | | CC | 135 (100%) | 159 (99%) | | | | CT | 0 | 1 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.381+10C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | Intron |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.985 | 1 | | 0.043 | | T | 0.015 | 0 | | | | CC | 131 (97%) | 160 (100%) | | | | CT | 4 (3%) | 0 | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.381+17G |
|---|
| A.A. Change | |
|---|
| Exon/Intron | Intron |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.995 | 0.995 | | NS | | C | 0.05 | 0.005 | | | | GG | 133 (99%) | 158 (99%) | | | | GC | 2 (1%) | 2 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.381+19C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | Intron |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.97 | 0.99 | | NS | | T | 0.03 | 0.01 | | | | CC | 128 (95%) | 158 (99%) | | | | CT | 7 (5%) | 2 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.381+27G |
|---|
| A.A. Change | |
|---|
| Exon/Intron | Intron |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.76 | 0.8 | | NS | | C | 0.24 | 0.2 | | | | GG | 80 (60%) | 102 (63%) | | | | GC | 46 (34%) | 52 (33%) | | | | CC | 9 (6%) | 6 (4%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.381+107G |
|---|
| A.A. Change | |
|---|
| Exon/Intron | Intron |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.995 | 1 | | NS | | A | 0.005 | 0 | | | | GG | 134 (99%) | 160 (100%) | | | | GA | 1 (1%) | 0 | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM2 |
|---|
| Reference transcript | NM_002762.2 |
|---|
| DNA Change | c.381+135C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | Intron |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.97 | 0.98 | | NS | | T | 0.03 | 0.02 | | | | CC | 127 (94%) | 153 (96%) | | | | CT | 8 (6%) | 7 (4%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | TNP2 |
|---|
| Reference transcript | NM_005425.4 |
|---|
| DNA Change | c.76T>G |
|---|
| A.A. Change | p.Cys26Gly |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| T | 1.00 | 0.997 | | NS | | G | 0 | 0.003 | | | | TT | 135 (100%) | 159 (99%) | | | | TG | 0 | 1 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | TNP2 |
|---|
| Reference transcript | NM_005425.4 |
|---|
| DNA Change | c.117G>C |
|---|
| A.A. Change | p.Gln39His |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 1 | 0.997 | | NS | | C | 0 | 0.003 | | | | GG | 135 (100%) | 159 (99%) | | | | GC | 0 | 1 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | TNP2 |
|---|
| Reference transcript | NM_005425.4 |
|---|
| DNA Change | c.129C>A |
|---|
| A.A. Change | p.Gly43Gly |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.98 | 0.99 | | NS | | A | 0.02 | 0.01 | | | | CC | 130 (96%) | 158 (99%) | | | | CA | 5 (4%) | 2 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | TNP2 |
|---|
| Reference transcript | NM_005425.4 |
|---|
| DNA Change | c.301C>T |
|---|
| A.A. Change | p.Arg101Cy |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.66 | 0.68 | | NS | | T | 0.34 | 0.32 | | | | CC | 60 (44%) | 73 (46%) | | | | CT | 59 (44%) | 70 (44%) | | | | TT | 16 (12%) | 17 (10%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | TNP2 |
|---|
| Reference transcript | NM_005425.4 |
|---|
| DNA Change | c.391C>T |
|---|
| A.A. Change | p.Arg131Trp |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.37 | 0.4 | | NS | | T | 0.63 | 0.6 | | | | CC | 15 (11%) | 27 (17%) | | | | CT | 70 (52%) | 75 (47%) | | | | TT | 50 (37%) | 58 (36%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | TNP2 |
|---|
| Reference transcript | NM_005425.4 |
|---|
| DNA Change | c.*78C>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 3' of the stop codon |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.55 | 0.56 | | NS | | T | 0.45 | 0.44 | | | | CC | 42 (31%) | 54 (34%) | | | | CT | 63 (47%) | 70 (44%) | | | | TT | 30 (22%) | 36 (22%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM3 |
|---|
| Reference transcript | NM_021247.1 |
|---|
| DNA Change | c.-25C>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Cases | 125 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.32 | 0.3 | | NS | | T | 0.68 | 0.7 | | | | CC | 11 (8.8%) | 20 (13%) | | | | CT | 58 (46.4%) | 58 (36%) | | | | TT | 56 (44.8%) | 82 (51%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM3 |
|---|
| Reference transcript | NM_021247.1 |
|---|
| DNA Change | c.65C>T |
|---|
| A.A. Change | p.Thr22Met |
|---|
| Variation Type | others |
|---|
| Cases | 125 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 1 | 0.997 | | | | T | 0 | 0.003 | | | | CC | 125 (100%) | 159 (99%) | | | | CT | 0 | 1 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM3 |
|---|
| Reference transcript | NM_021247.1 |
|---|
| DNA Change | c.66A>G |
|---|
| A.A. Change | p.Thr22Thr |
|---|
| Variation Type | substitution |
|---|
| Cases | 125 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.996 | 1 | | NS | | A | 0.004 | 0 | | | | GG | 124 (99%) | 160 (100%) | | | | GA | 1 (1%) | 0 | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM3 |
|---|
| Reference transcript | NM_021247.1 |
|---|
| DNA Change | c.178G>T |
|---|
| A.A. Change | p.Gly60Trp |
|---|
| Variation Type | substitution |
|---|
| Cases | 125 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 1 | 0.997 | | NS | | T | 0 | 0.003 | | | | GG | 125 (100%) | 159 (99%) | | | | GT | 0 | 1 (1%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM3 |
|---|
| Reference transcript | NM_021247.1 |
|---|
| DNA Change | c.258C>G |
|---|
| A.A. Change | p.His86Gln |
|---|
| Variation Type | substitution |
|---|
| Cases | 125 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.8 | 0.8 | | NS | | G | 0.2 | 0.2 | | | | CC | 86 (68.8%) | 116 (72%) | | | | GC | 34 (27.2%) | 38 (24%) | | | | GG | 5 (4%) | 6 (4%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM3 |
|---|
| Reference transcript | NM_021247.1 |
|---|
| DNA Change | c.299G>A |
|---|
| A.A. Change | p.Arg100Gln |
|---|
| Variation Type | substitution |
|---|
| Cases | 125 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.4 | 0.4 | | NS | | A | 0.6 | 0.6 | | | | GG | 22 (18%) | 28 (17%) | | | | GA | 63 (50%) | 70 (44%) | | | | AA | 40 (32%) | 62 (39%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|
| Gene symbol | PRM3 |
|---|
| Reference transcript | NM_021247.1 |
|---|
| DNA Change | c.*1C>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 3' of the stop codon |
|---|
| Variation Type | substitution |
|---|
| Cases | 135 Infertile |
|---|
| Controls | 160 Fertile |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.012 | 0.023 | | NS | | T | 0.988 | 0.977 | | | | CT | 3 (2.4%) | 8 (5%) | | | | TT | 122 (97.6%) | 152 (95%) | | |
|
|---|
| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure?
Mol Hum Reprod. 2009 Nov;15(11):733-8. |
|---|