TNP2
Gene name: transition protein 2 (during histone to protamine replacement)
OMIM ID: 190232 Chromosome location: 16p13.13
Polymorphisms
| Disease/Phenotype | Spermatogenic failure, susceptibility to. |
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| Reference transcript | NM_005425.4 |
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| DNA Change | c.76T>G |
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| A.A. Change | p.Cys26Gly |
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| Variation Type | substitution |
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| Cases | 135 Infertile |
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| Controls | 160 Fertile |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| T | 1.00 | 0.997 | | NS | | G | 0 | 0.003 | | | | TT | 135 (100%) | 159 (99%) | | | | TG | 0 | 1 (1%) | | |
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| 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. |
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| Disease/Phenotype | Spermatogenic failure, susceptibility to. |
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| Reference transcript | NM_005425.4 |
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| DNA Change | c.117G>C |
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| A.A. Change | p.Gln39His |
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| Variation Type | substitution |
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| Cases | 135 Infertile |
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| Controls | 160 Fertile |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 1 | 0.997 | | NS | | C | 0 | 0.003 | | | | GG | 135 (100%) | 159 (99%) | | | | GC | 0 | 1 (1%) | | |
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| 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. |
|---|
| Disease/Phenotype | Spermatogenic failure, susceptibility to. |
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| Reference transcript | NM_005425.4 |
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| DNA Change | c.129C>A |
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| A.A. Change | p.Gly43Gly |
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| Variation Type | substitution |
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| Cases | 135 Infertile |
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| Controls | 160 Fertile |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 0.98 | 0.99 | | NS | | A | 0.02 | 0.01 | | | | CC | 130 (96%) | 158 (99%) | | | | CA | 5 (4%) | 2 (1%) | | |
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| 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. |
|---|
| Disease/Phenotype | Spermatogenic failure, susceptibility to. |
|---|
| Reference transcript | NM_005425.4 |
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| DNA Change | c.301C>T |
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| A.A. Change | p.Arg101Cy |
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| Variation Type | substitution |
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| Cases | 135 Infertile |
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| Controls | 160 Fertile |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| 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%) | | |
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| 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. |
|---|
| Disease/Phenotype | Spermatogenic failure, susceptibility to. |
|---|
| Reference transcript | NM_005425.4 |
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| DNA Change | c.391C>T |
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| A.A. Change | p.Arg131Trp |
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| Variation Type | substitution |
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| Cases | 135 Infertile |
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| Controls | 160 Fertile |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| 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%) | | |
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|---|
| 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. |
|---|
| Disease/Phenotype | Spermatogenic failure, susceptibility to. |
|---|
| Reference transcript | NM_005425.4 |
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| DNA Change | c.*78C>T |
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| A.A. Change | |
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| Exon/Intron | 3' of the stop codon |
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| Variation Type | substitution |
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| Cases | 135 Infertile |
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| Controls | 160 Fertile |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| 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%) | | |
|
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| 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. |
|---|