ABCMdb

ABCC7 p.Glu664*

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Publications

PMID: 12913074 [PubMed] Aznarez I et al: "Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene."

No. Sentence Comment

3 We have also determined whether five other CF mutations D648V, D651N, G654S, E664X and T665S located near this putative ESE could lead to aberrant splicing of exon 13. Login to comment
5 In addition, we have shown that D648V, E664X and T665S mutations could cause aberrant splicing of exon 13 by improving the polypyrimidine tracts of two cryptic 30 splice sites. Login to comment
101 ca/cftr/) mutations are located upstream and the E664X (2122 G!T) (33) and T655S (2125A!T) (http://www.genet. sickkids.on.ca/cftr/) mutations are located downstream of the ESE sequence (Fig. 3A). Login to comment
130 Both the E664X and T665S mutations were found to cause an increase in the D248 transcript (Fig. 3C, lanes 2 and 5, respectively) by 2and 5-fold, respectively (Fig. 3E). Login to comment
134 3C and E) added further support to the conclusion that E664X and T665S could cause skipping of the first 248 nucleotides of exon 13 by improving the polypyrimidine tract of the 248-cryptic 30 splice site. Login to comment
144 We next investigated the effect of co-transfection of an expression plasmid for SF2/ASF with the minigene reporters containing the D651N, E664X and T665S mutations. Login to comment
163 (C) RT-PCR analysis of COS-7 cell lines transfected with minigenes driven by the CMV promoter carrying the wild-type exon 13 sequence, WT, and E664X, 2123A!T, 2124G!T, T665S, 2123AGA!TTT, 2123A!G/2125A!G and 2126C!A mutations separated in a 2% agarose gel. Login to comment
176 We have also expanded the search for other relevant sequences to the splicing of exon 13 and analyzed the effect of five additional previously reported CFTR mutations, D648V, D651N, G654S, E664X and T665S. Login to comment
177 The aberrant splicing of exon 13 observed for D648V, E664X and T665S mutations is probably due to strengthening the polypyrimidine tract adjacent to one of two cryptic 30 splice sites, located at 195 and 248 nt, downstream of the native 30 splice site. Login to comment
186 Therefore, our results showing that two nonsense mutations, E656X and E664X, affect the splicing of exon 13 acquire particular importance. Login to comment
203 Minigenes carrying D651N, E664X and T665S mutations were transfected alone (noted by the minus sign) or co-transfected with SF2/ASF (noted by the plus sign). Login to comment
212 Conversely, SF2/ASF exacerbated the effect of D651N, E664X and T665S mutations on the splicing of exon 13. Login to comment
221 The mutations were reported to associate with CF phenotype [D648V (31), E656X (http:// www.genet.sickkids.on.ca/cftr/), 2108delA (27), E664X (33) and T665S (http://www.genet.sickkids.on.ca/cftr/)] or with pulmonary disease [D651N (32)]. Login to comment

PMID: 20714932 [PubMed] Sommerburg O et al: "Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population."

No. Sentence Comment

110 In the second column, the results for both screening strategies are given CF patient True result for PAP/DNA Meconium ileus IRT (ng/ml) PAP (ng/ml) initial DNA result Age at referral (weeks) Mean of sweat Cl- measures (mmol/l) Age at diagnosis (weeks) Subsequent investigation Further DNA analysis 1 FN/FN No 36.0 n.d. n.d. 10 84 12 No special F508del/S1251N 2 TP/TP No 95.5 2.56 F508del/G542X 5 84 6 No special n.d. 3 TP/TP No 132.5 5.81 F508del/ - 4 95 5 No special n.d.a 4 TP/FN No 152.5 2.70 - / - 8b 44 10 ICMc CFTRdele2,3/ - c 5 TP/TP No 204.0 1.00 F508del/G551D 6 95 6 No special n.d. 6 TP/TP Yes 245.0 1.00 F508del/F508del - n.d.d 1 No special n.d. 7 TP/TP No 220.5 1.70 F508del/F508del 8b 82 10 No special n.d. 8 FN/FN No 139.0 0.95 - / - 15b 93 16 No special N1303K/R709X 9 TP/TP Yes 197.5 1.20 F508del/F508del - n.d.d 1 No special n.d. 10 TP/TP Yes 143.5 1.10 F508del/F508del - 92 1 No special n.d. 11 TP/TP No 114.0 1.45 F508del/ - 7b 116 7 No special F508del/p.Q552X 12 TP/TP No 174.5 2.60 F508del/F508del 4 88 5 No special n.d. 13 TP/TP Yes 81 1.30 F508del/F508del 1 n.d.d 1 No special n.d. 14 TP/FN No 198.5 9.45 - / - 8b 103 8 No special CFTRdele2,3/ E664X PAP IRT/PAP strategy, DNA IRT/DNA strategy, TP true positive, FN false negative a Further DNA analysis was not performed in the local CF centre after the health insurance of the patient refused to pay for further DNA analysis. 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

109 h M1K, K14X, W19X, 211delG, G27E, R31C, 237insA, 241delAT, Q39X, 244delTA, 296+2T>C, 297-3C>T, W57X+F87L, 306delTAGA, P67L, A72D, 347delC, R75Q, 359insT, 394delT, 405+4A>G, Q98R, 457TAT>G, R117H+5T, R117H+I1027T, R117L, R117P, H139R, A141D, M152V, N186K, D192N, D192del, E193X, 711+1G>A, 711+3A>G, 712-1G>T, L206F, W216X, C225R, Q237E, G241R, 852del22, 876-14del12, 905delG, 993del5, E292K, Y304X, F311del, 1161delC, R347L, R352Q, W361R, 1215delG, S364P, S434X, D443Y, S466X, C491R, T501A, I506T, F508C, I507del+F508C, F508del+L467F, 1774delCT, R553G, 1802delC, 1806delA, A559E, Y563N, 1833delT, Y569C, Y569H, Y569X, G576X, G576A, T582I, 1898+3A>G+186-13C>G, 1918delGC, R600G, L610S, G628R, 2043delG, 2118del4, E664X, 2174insA, Q689X, K698R, K716X, L732X, 2347delG, 2372del8, R764X, 2423delG, S776X, 2634insT, 2640delT, C866Y, 2752-1G>T, W882X, Y913C, V920M, 2896insAG, H939D, H939R, D979V, D985H, D993Y, 3120G>A, I1005R, 3195del6, 3293delA, 3320ins5, W1063X, A1067T, 3359delCT, T1086I, W1089X, Y1092X+S1235R, W1098X, E1104X, R1128X, 3532AC>GTA, 3548TCAT>G, M1140del, 3600G>A, R1162L, 3667ins4, 3732delA+K1200E, S1206X, 3791delC, S1235R+5T, Q1238R, Q1238X, 3849+4A>G, T1246I, 3869insG, S1255P, R1283K, F1286S, 4005+1G>T, 4006-8T>A, 4015delA, N1303H, N1303I, 4172delGC, 4218insT, 4326delTC, Q1382X, 4375-1C>T, 4382delA, D1445N, CF40kbdel4-10, Cfdel17b. Login to comment

PMID: 9101301 [PubMed] Clavel C et al: "Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140."

No. Sentence Comment

11 RESULTS Molecular defects were found in E664X, 2113delA, 306delTAGA, and aM1140. Login to comment
12 E664X A transversion GÃT at nucleotide position 2,122 was located in exon 13. Login to comment
31 Sequencing data of E664X, 306 del TAGA, and 2113 del A mutations. Login to comment

PMID: 23378595 [PubMed] Tsui LC et al: "The cystic fibrosis gene: a molecular genetic perspective."

No. Sentence Comment

105 Other examples of mutations affecting splicing efficiency include several missense (D648V and T665S) and nonsense(E664X)mutations,presumablyduetothe disruption of the ESE elements within exon 13 (Aznarez et al. 2003). Login to comment