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

PRM1

Gene name: protamine 1
OMIM ID: 182880
Chromosome location: 16p13.13

Polymorphisms

Disease/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_002761.2
DNA Changec.-191C>A
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
C0.80.84NS
A0.20.16
CC85 (63%)113 (71%)
CA45 (33%)42 (26%)
AA5 (4%)5 (3%)
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_002761.2
DNA Changec.-107G>C
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
G0.9961.00NS
C0.0040
GG134 (99%)160 (100%)
GC1 (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_002761.2
DNA Changec.54G>A
A.A. Changep.Gln18Gln
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.990.985NS
A0.010.015
GG133 (99%)155 (97%)
GA2 (1%)5 (3%)
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_002761.2
DNA Changec.65G>A
A.A. Changep.Ser22Asn
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G0.9961NS
A0.0040
GG134 (99%)160 (100%)
GA1 (0%)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_002761.2
DNA Changec.139C>A
A.A. Changep.Arg47Arg
Variation Typesubstitution
Cases135 Infertile
Controls160 Fertile
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.320.33NS
A0.680.67
CC16 (12%)16 (10%)
CA55 (41%)74 (46%)
AA64 (47%)70 (44%)
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.