Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PRM2

Gene name: protamine 2
OMIM ID: 182890
Chromosome location: 16p13.13

Polymorphisms

Disease/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.-67C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.9961NS
T0.0040
CC134 (99%)160 (100%)
CT1 (1%)0
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.87C>T
A.A. Changep.His29His
Variation Typeothers
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C10.997NS
T00.003
CC135 (100%)159 (99%)
CT01 (1%)
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.201C>T
A.A. Changep.His67His
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C10.997NS
T00.003
CC135 (100%)159 (99%)
CT01 (1%)
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.381+10C
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.98510.043
T0.0150
CC131 (97%)160 (100%)
CT4 (3%)0
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.381+17G
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.9950.995NS
C0.050.005
GG133 (99%)158 (99%)
GC2 (1%)2 (1%)
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.381+19C
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.970.99NS
T0.030.01
CC128 (95%)158 (99%)
CT7 (5%)2 (1%)
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.381+27G
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.760.8NS
C0.240.2
GG80 (60%)102 (63%)
GC46 (34%)52 (33%)
CC9 (6%)6 (4%)
ReferenceImken 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/PhenotypeSpermatogenic failure 9
Reference transcriptNM_002762.2
DNA Changec.381+102C
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.730.74NS
A0.270.26
CC74 (55%)85 (53%)
CA50 (37%)67 (42%)
AA11 (8%)8 (5%)
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.381+107G
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.9951NS
A0.0050
GG134 (99%)160 (100%)
GA1 (1%)0
ReferenceImken 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/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002762.2
DNA Changec.381+135C
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.970.98NS
T0.030.02
CC127 (94%)153 (96%)
CT8 (6%)7 (4%)
ReferenceImken 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.