ABCMdb

ABCC7 p.Arg792*

None has been submitted yet.

Publications

PMID: 10439967 [PubMed] Liechti-Gallati S et al: "Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease."

No. Sentence Comment

20 The distribution of analysed known mutations is similar to that of the total number of mutations in the entire CFTR gene: missense mutations account for 35% (G27E, G85E, R117H, A120T, I148T, H199Y, R334W, T338I, R347P, R347H, A455E, M718K, S5449N, S5449I, G551D, R560T, R560S, S945L, S977P, I1005R, R1066C, R1070Q, M1101K, D1152H, S1235R, R1283M, N1303K, N1303H), followed by 28% of frameshift mutations (175delC, 394delTT, 457TAT- > G, 905delG, 1078delT, I507, F508, 1609delCA, 1677delTA, 2143delT, 2176insC, 218delA, 2184insA, 2869insG, 3659delC, 3732delA, 3821delT, 3905insT, 4016insT, 4172delGC, 4382delA), 21% of nonsense mutations (Q30X, Q39X, Q220X, W401X, Q525X, G542X, Q552X, R553X, V569X, E585X, K710X, R792X, Y1092X, R1162X, S1255X, W1282X, E1371X), and 16% of splice site mutations (621 + 1G- > T, 711 + 1G- > T, 711 + 5G- > A, 1717-1G- > A, 1898 + 1G- > A, 1898 + 5G- > T, 2789 + 5G- > A, 3271 + 1G- > A, 3272-26A- > G, 3601-17T- > C, 3849 + 4A- > G, 3849 + 10kbC- > T, 4374 + 1G- > T). Login to comment
43 The R792X nonsense mutation in exon 13 and the 4374 + 1G- > T splice site mutation in exon 23 were not detectable with our screening method, whereas 78 out of 80 mutations and all 20 polymorphisms showed band shifts either in the single or in the double strands of the amplified DNA fragments. Login to comment

PMID: 15698946 [PubMed] des Georges M et al: "High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France."

No. Sentence Comment

68 of chromosomes (frequency %) p.M1V 1 1 (0.23) p.M1K 1 1 (0.23) c.300delA 3 1 (0.23) p.P67L 3 1 (0.23) c.359insT 3 1 (0.23) p.G85E 3 3 (0.70) c.394delTT 3 1 (0.23) p.Q98R 4 1 (0.23) p.R117H 4 2 (0.47) p.Y122X 4 2 (0.47) p.Y161N 4 1 (0.23) c.621+1GNT intron 4 1 (0.23) c.621+2TNG intron 4 1 (0.23) p.I175V 5 2 (0.47) c.711+1GNT intron 5 5 (1.16) p.L206W 6 3 (0.70) p.Q220X 6 1 (0.23) p.L227R 6 1 (0.23) c.1078delT 7 2 (0.47) p.R334W 7 7 (1.63) p.R347P 7 2 (0.47) c.1215delG 7 1 (0.23) c.T5 intron 8 1 (0.23) p.D443Y 9 1 (0.23) p.I506T 10 1 (0.23) p.I507del 10 4 (0.93) p.F508del 10 259 (60.23) p.F508C 10 1 (0.23) c.1677delTA 10 1 (0.23) c.1717-8GNA intron 10 1 (0.23) c.1717-1GNA intron 10 6 (1.40) p.G542X 11 23 (5.35) p.S549R 11 1 (0.23) p.G551D 11 2 (0.47) p.R553X 11 1 (0.23) c1811+1.6kbANG intron 11 4 (0.93) c.1812-1GNA intron 11 1 (0.23) p.T582I 12 1 (0.23) p.E585X 12 2 (0,47) c.1898+1GNA intron 12 1 (0.23) [c.1898+5GNA ;p.E725K] intron 12 1 (0.23) c.1898+73TNG intron 12 1 (0.23) c.2183AANG 13 4 (0.93) c.2184insA 13 1 (0.23) p.K710X 13 4 (0.93) c.2423delG 13 1 (0.23) p.S776X 13 1 (0.23) c.2493ins8 13 1 (0.23) p.R792X 13 1 (0.23) p.K830X 13 1 (0.23) p.D836Y 14a 1 (0.23) p.W846X1 14a 1 (0.23) c.2711delT 14a 1 (0.23) c.2789+5GNA intron 14b 3 (0.70) p.S945L 15 3 (0.70) p.D993Y 16 1 (0.23) c.3129del4 17a 1 (0.23) c.3195del6 17a 1 (0.23) c.3272-26ANG intron 17a 1 (0.23) [c.3395insA ;pI148T] 17b/4 1 (0,23) p.Y1092X 17b 3 (0.70) Table 1 (continued) Mutation Location exon/intron No. Login to comment

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

106 e M1V, R75X, L165S, F311L, R560K, 1898+1G>C, 1949del84, 2113delA, 2184delA, R792X, W846X2, 3121-1G>A, H1054D, 3737delA, D1270N+R74W. Login to comment

PMID: 7691344 [PubMed] Claustres M et al: "Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France."

No. Sentence Comment

26 Mutations identified in a Southern french population mutation AF5O8 M1K 300delA P67L R74W G85E 394detTT 406-6 (T-C) Y122X I148T 621 + 1G-T 62/+2T-G L206W 1078deIT R334W R347H R347P AI507 1717-1G-A G542X R553X S549N G551D E585X 2184delA K710X R792X S945L Y1092X 3272-26A-G R1158X R1162X 3737delA 3659delC 11234V D1270N W1282X N13O3H N13O3K 4382delA Exon 10 1 3 3 3 3 3 intron 3 4 4 intron 4 intron 4 6a 7 7 7 7 10 intron 10 11 11 11 11 , 12 13 13 13 15 17b intron 17a 19 19 19 19 19 20 20 21 21 24 Amino acid change 3 bp deletion start-Lys at 1 frameshift Pro-Leu at67 Arg-Trp at 74 Gly-Glu at 85 frameshift splice mutation? Login to comment
41 R792X. Login to comment
67 The patient with the mutation R792X has also a T-to-C transition in exon 15, that was first reported to the CF Consortium as a possible missense mutation. Login to comment
68 As the stop mutation R792X in exon 13 is a causing disease mutation that leads in a premature termination of the protein product, the rare sequence alteration first named 'L967S' in exon 15 should rather be considered as a polymorphism 3032 T or C. DISCUSSION The SSCP approach for detecting the CFTR mutations has been found reliable and effective in this study, as we characterized 91.2% of mutations responsible for CF in a small area from Southern France. Login to comment
83 Single strand conformation polymorphism (SSCP) analysis 100 ng ofgenormc DNA from each individual was amplified by poh/merase chain reaction (PCR) using each of the 27 sets of primers described by Zielenski a al (22), except for exon 1, that was screened by denaturing gradient gel SSCP Sequence C-T- R792X Figure 6. Login to comment
84 Identification of the stop mutation R792X in exon 13 (the size of PCR products analyzed by SSCP is 497-bp). Login to comment

PMID: 11232455 [PubMed] Federici S et al: "[CFTR gene analyis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA>G mutations]."

No. Sentence Comment

63 /2 1717-1G>A 1,4 1,7 1,33 R334W 1,2 2,6 < 0,5 R553X 0,9 0,9 0,87 G551D 0,7 0,9 0,97 Delta I507 0,7 0,9 0,66 4005+1G>A 0,7 < 0,5 < 0,5 R792X 0,7 < 0,5 < 0,5 R1162X 0,5 < 0,5 < 0,5 1717-8G>A 0,5 < 0,5 < 0,5 2789+5G>A 0,5 < 0,5 < 0,5 3849+10kbC>T 0,5 0,9 < 0,5 3737 del A 0,5 1,7 < 0,5 Y1092X 0,5 0,9 < 0,5 3905 ins T 0,5 < 0,5 < 0,5 32 mutations rares* 7,8 6,1 ND All&#e8;les non caract&#e9;ris&#e9;s 5,6 4,4 6,8 a : fr&#e9;quence all&#e9;lique pour l`ensemble de la s&#e9;rie (207 patients) ; b : fr&#e9;quence all&#e9;lique pour les patients originaires du Sud-Ouest (57 patients) ; c : fr&#e9;quence all&#e9;lique dans la population fran&#e7;aise [6] ; d : fr&#e9;quence all&#e9;lique en Italie [12] ; e : fr&#e9;quence all&#e9;lique en Espagne [16] ; * 32 mutations diff&#e9;rentes (connues) retrouv&#e9;es en un seul exemplaire ; ND : non d&#e9;termin&#e9;. Login to comment