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

PRM3

Gene name: protamine 3
OMIM ID:
Chromosome location: 16p13.3

Polymorphisms

Disease/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_021247.1
DNA Changec.-25C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Cases125 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.320.3NS
T0.680.7
CC11 (8.8%)20 (13%)
CT58 (46.4%)58 (36%)
TT56 (44.8%)82 (51%)
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_021247.1
DNA Changec.65C>T
A.A. Changep.Thr22Met
Variation Typeothers
Cases125 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C10.997
T00.003
CC125 (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_021247.1
DNA Changec.66A>G
A.A. Changep.Thr22Thr
Variation Typesubstitution
Cases125 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.9961NS
A0.0040
GG124 (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_021247.1
DNA Changec.178G>T
A.A. Changep.Gly60Trp
Variation Typesubstitution
Cases125 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G10.997NS
T00.003
GG125 (100%)159 (99%)
GT01 (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_021247.1
DNA Changec.258C>G
A.A. Changep.His86Gln
Variation Typesubstitution
Cases125 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.80.8NS
G0.20.2
CC86 (68.8%)116 (72%)
GC34 (27.2%)38 (24%)
GG5 (4%)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, susceptibility to.
Reference transcriptNM_021247.1
DNA Changec.299G>A
A.A. Changep.Arg100Gln
Variation Typesubstitution
Cases125 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.40.4NS
A0.60.6
GG22 (18%)28 (17%)
GA63 (50%)70 (44%)
AA40 (32%)62 (39%)
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_021247.1
DNA Changec.*1C>T
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.0120.023NS
T0.9880.977
CT3 (2.4%)8 (5%)
TT122 (97.6%)152 (95%)
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.

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