ABCMdb

ABCC7 p.Arg1358Ile

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Publications

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."

No. Sentence Comment

5 Two mutations in exon 25 viz., R1358I and K1351R were identified as novel mutations in patients with non-CBAVD obstructive azoospermia. Login to comment
6 Mutation R1358I was predicted as probably damaging CFTR mutation. Login to comment
87 SSCP analysis and subsequent DNA sequencing revealed two novel mutations viz., R1358I and K1351R (Table 2). Login to comment
97 harvard.edu/pph2/) for R1358I was more than 0.05 (threshold for pathological mutation) and therefore categorized as deleterious mutation which may probably affect CFTR structure and functions (Table 4). Login to comment
98 Another algorithm mmb program (http://mmb.pcb.ub.edu/) also validates predictions done by PolyPhen-2 and revealed R1358I as pathological mutation. Login to comment
99 The output prediction score with iStable program (http://predictor.nchu.edu.tw/iStable/indexSeq.php) for R1358I was also more than 0.5 (threshold for stability), thus predicting that substitution of arginine to isoleucine at 1358 position may affect the structural stability of protein (Table 4). Login to comment
108 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. Login to comment
137 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. Login to comment
138 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). Login to comment