ABCMdb

ABCC7 p.Asp44Gly

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Publications

PMID: 10923036 [PubMed] Claustres M et al: "Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France."

No. Sentence Comment

108 g D44G, 300delA, W57X, 405+1G>A, D110H, E116K, 541del4, 542del7, L137R, 621+2T>G, I175V, H199R, H199Y, C225X, V232D, Q290X, E292X, G314V, T338I, 1221delCT, W401X, Q452P, I502T, 1716+2T>C, G544S, R560S, A561E, V562I, Y569D, 1898+3A>G, 1898+5G>A, G628R(G>A), 2143delT, G673X, R851X, Q890X, S977F, 3129del4, 3154delG, 3271+1G>A, G1061R, R1066L, R1070W, 3601-17T>C, S1196X, 3732delA, G1249R, 3898insC, 4374+1G>A, del25kb. Login to comment

PMID: 1379210 [PubMed] Fanen P et al: "Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions."

No. Sentence Comment

66 In TABLE 1 Oligonucleotides Used for Amplification and DGGE Analysis of CFTR Gene Exons Annealing Amplified Denaturant Exon PCR primers, 5` + 3 temperature ("C) product (bp) 1 2 3 4 5 6a 6b 7 8 9 10 11 12 13 14a 14b 15 16 17a 17b 18 19 20 21 22 23 24 CGTAGTGGGTGGAGAAAGC (CFl) [55 GC] CCAAAGCCAACCCATACACA (GCCFl) CCAAATCAAGTGAATATCTG (CF2) [40 GC] TAATAATATGAATTTCTCTCTT (GCCFB) TTGGATATACTTGTGTGAAT (CF3) [40 GC] TTCGTAGTCTTTTCATAATC (GCCF3) TGTGTTGAAATTCTCAGGGT (CF4) [40 GC] CAGAATATATGTGCCATGGG (GCCF4) [35GC] TATTTGTATTTTGTTTGTTGA (GCCF5) CTTTCCAGTTGTATAATTTA (CF5) [50 GC] TGGAAGATACAATGACACCTG (GCCFGa) GCATAGAGCAGTCCTGGTTT (CF6a) TATGACTTAAAACCTTGAGC (CFGb) [40 GCIAAGGACAGAATTACTAACAA (GCCFGb) CATCCTGAATTTTATTGTTA (CF7) [50 GC] ATCATAGTATATAATGCAGC (GCCF7) [50 GC] TAAAGTAGATGTAATAATGC (GCCFS) ATTTTATTCGCCATTAGGAT (CFS) TGAAAATATCTGACAAACTC (CF9) GGGGAATTATTTGAGAAAGC (CF9i) [40 GC] CCTTCCAGCACTACAAACTA (GCCFS) TCCTGAGCGTGATTTGATAA (CFlO) [35 GCIATTTGGGTAGTGTGAAGGG (GCCFlO) [35 GC] CAGATTGAGCATACTAAAAGTG (GCCFll) CATTTACAGCAAATGCTTGCTAG (CFll) ATGACCAGGAAATAGAGAGG (CF12) [30 GC] GCTACATTCTGCCATACCAA (GCCF12) [35 GC] TATATCTTAAAGCTGTGTCTGT (GCCF1311) TCCCTGCTCAGAATCTGGTA (CF1312) [50 GC] CCCTTACAAATGAATGGCAT (GCCF1321) TATCCAGTTCAGTCAAGTTT (CF1322) [50 CC] CCCTTACAAATGAATGGCAT (GCCF1321) TACATATTGCATTCTACTCA (CF1323) CAAAATGCTAAAATACGAGACA (CF13-3) TCCCTGCTCAGAATCTGGTA (CF1312) [35 GC] GGTGGCATGAAACTGTACTG (GCCF14a) TGTATACATCCCCAAACTATCT (CF14a) AATAGGTGAAGATGTTAGAA (CF14b) [40 GC] ATAAAACACAATCTACACAA (GCCF14b) TCAGTAAGTAACTTTGGCTGC (CF15) [40 GC] CCTATTGATGGTGGATCAGC (GCCF15) [25 GC] TCTGAATGCGTCTACTGTGA (GCCF16) GCAATAGACAGGACTTCAAC (CF16) [35 GC] TGCAATGTGAAAATGTTTAC (GCCF17a) CTCTTATAGCTTTTTTACAA (CF17a) [40 GC] TTTGTGTTTATGTTATTTGC (GCCFl7b) TGCAGCATTTTATTCATTGA (CF17b) ATCATTTCTATTCTCATTTG (CFl7bi) TAGGAGAAGTGTGAATAAAG (CF18) [40 GC] ATACTTTGTTACTTGTCTGA (GCCF18) GTGAAATTGTCTGCCATTCT (CF19) [45 GC] AGGCTACTGGGATTCACTTA (GCCF19) [35 CC] TATGTCACAGAAGTGATCCC (GCCFZO) TGAGTACAAGTATCAAATAGC (CF20) TGAAATATTTTACAATACAATAAGGG (CF21) [40 CC] GCCATTTGTGTTGGTATGAG (GCCF21) TTTTAGAATGTCAACTGCTT (CF22) [50 GC] ATGATTCTGTTCCCACTGTG (GCCF22) [40 GC] CTGTTCTGTGATATTATGTG (GCCF23) GTTATCAAGAATTACAAGGG (CF23) TTTCTGTCCCTGCTCTGGTC (CF24) [40 GC] TCCCACGAGCTCCAATTCCA (GCCF24) 55 451 range (%) 40-80 50 240 lo-60 50 323 lo-60 55 369 30-80 45 235 lo-60 55 345 50 301 40-90 and lo-60 lo-60 50 365 lo-60 45 302 lo-60 55 375 lo-60 55 298 lo-60 55 336 lo-60 50 224 lo-60 55 296 lo-60 55 516 25-75 50 318 40-90 50 454 lo-60 55 545 O-60 55 276 50 168 lo-60 lo-60 55 390 lo-60 55 323 lo-60 45 283 lo-60 50 382 lo-60 50 266 30-80 48 277 lo-60 55 55 407 302 30-80 lo-60 55 272 55 340 lo-60 and 30-80 30-80 50 242 lo-60 60 362 30-80 Running time (h) 7 3 3 5 3 5 5 4 6 3 5 5 4 3 3 2 4 4 2 6 5 3 5 3 4 4 3 3 5 5 5 5 5 3 4 TABLE 2 Mutations Identified in this Study 773 Name Amino acid change Nucleotide change Exon - D44G 241delAT 574delA G1`78R 711 + 1 G -. Login to comment
89 Analysis of the Remaining Exons Other mutations or candidate mutations were detected outside the regions cited above and included D44G, 241delAT (exon 2) (Fig. l), G178R, 711 + 1 G-T (exon 5), W1063X, R1066C, Y1092X (exon 17b) (Fig. 2), and 4374 + 1 G-A (intron 23). Login to comment