ABCC7 p.Lys1351Arg
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PMID: 25010724
[PubMed]
Sharma H et al: "Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure."
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5
Two mutations in exon 25 viz., R1358I and K1351R were identified as novel mutations in patients with non-CBAVD obstructive azoospermia.
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ABCC7 p.Lys1351Arg 25010724:5:42
status: NEW87 SSCP analysis and subsequent DNA sequencing revealed two novel mutations viz., R1358I and K1351R (Table 2).
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ABCC7 p.Lys1351Arg 25010724:87:90
status: NEW88 Notably K1351R mutation was found in association with IVS8-5T allele in one patient.
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ABCC7 p.Lys1351Arg 25010724:88:8
status: NEW108 of alleles Non-CBAVD obstructive azoospermia (n = 60) T5 Reduction of oligo T tract to 5T at 1342-6 Aberrant splicing Intron 8 19 F508del Deletion of 3 bp (CTTor TTT) between 1652 and 1655 Deletion of phenylalanine at 508 Exon 11 7 R1358Ia G to A at 4073 Arginine to isoleucine at 1358 Exon 25 1 K1351Ra A to G at 4052 Lysine to arginine at 1351 Exon 25 1 Oligospermia/non-obstructive azoospermia (n = 150) T5 Reduction of oligo T tract to 5T at 1342-6 Aberrant splicing Intron 8 27 F508del Deletion of 3 bp (CTTor TTT) between 1652 and 1655 Deletion of phenylalanine at 508 Exon 10 11 a Indicates novel substitution mutations.
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ABCC7 p.Lys1351Arg 25010724:108:319
status: NEW137 Mutation Non-CBAVD obstructive azoospermia (OA) (n = 60) Spermatogenic failure (SF) (n = 150) Healthy control (ctrl) (n = 100) Chi square-test P valueÌe; OA vs ctrl SF vs ctrl OA vs SF 1 F508del 7 (11.6%) 11 (7.3%) 0 0.0008 0.008 NS 2 IVS(8)-5T homozygous 4 (6.6%) 7 (4.6%) 0 0.01 0.04 NS 3 IVS(8)-5T heterozygous 11 (18.3%) 13 (8.6%) 7 (7%) 0.00 NS 0.0001 4 R1358I 1 (1.6%) 0 0 NS - NS 5 K1351R 1 (1.6%) 0 0 NS - NS Ìe; P b 0.05 is considered as significant. Table 4 Pathological and stability prediction of novel substitution mutations identified in Indian non-CBAVD obstructive azoospermia patients.
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ABCC7 p.Lys1351Arg 25010724:137:393
status: NEW138 Pathological/structural prediction Novel mutants identified R1358I K1351R Polyphen score 1.00 0.03 Pathological prediction Probable damaging Benign iStable score 0.716 0.551 Stability prediction Decrease Unaffected Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/) was used to generate the output score of novel sequence variants (threshold for pathological mutation was 0.05).
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ABCC7 p.Lys1351Arg 25010724:138:67
status: NEW