ABCMdb

ABCC7 p.Glu656*

None has been submitted yet.

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

2 In this study, we have investigated the consequence of two cystic fibrosis (CF) disease-causing mutations, E656X and 2108delA, on the function of a putative exonic splicing enhancer (ESE) in exon 13 of the CFTR gene. Login to comment
4 Using minigene constructs, we have demonstrated that the E656X and 2108delA mutations could indeed cause aberrant splicing in a predicted manner, supporting a role for the putative ESE sequence in pre-mRNA splicing. Login to comment
78 It was noted that two exon 13 mutations, E656X (http:// www.genet.sickkids.on.ca/cftr/) and 2108delA (27), were located within the putative ESE in exon 13 (Fig. 2A). Login to comment
79 The E656X mutation corresponded to a G to T substitution at nucleotide 2098; affecting the first nucleotide of the stretch of purine-rich ESE sequence, whereas 2108delA shortened the ESE sequence by one nucleotide. Login to comment
111 (D) RT-PCR analysis of minigenes carrying the wild-type sequence, WT, and E656X and 2108delA mutations separated in a 2% agarose gel. Login to comment
138 As shown in Figure 4A, co-transfection with the hTra2a-expressing construct could partially suppress the defective splicing caused by the E656X and 2108delA mutations (compare lanes 1 to 2 and 3 to 4, respectively). Login to comment
175 Using a CFTR minigene construct, we have found that two previously reported CFTR mutations, E656X and 2108delA, located in the ESE consensus sequence could actually cause aberrant splicing of exon 13. 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
196 Minigenes carrying E656X, 2108delA, MTand D648V mutations were transfected alone (noted by the minus sign) or co-transfected with hTra2a (noted by the plus sign). Login to comment
211 Increased expression of hTra2a decreased the aberrant splicing of exon 13 caused by two exonic splicing mutations, E656X and 2108delA. 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: 19318346 [PubMed] Goubau C et al: "Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis."

No. Sentence Comment

60 Table 2 CFTR mutations in the patient subgroups CF-PS CFTR dysfunction CF unlikely Genotype Subjects (n) Genotype Subjects (n) Genotype Subjects (n) F508del*/Not found 12 F508del*/3849+10 kb(C.T){ 11 Not found/Not found 39 Not found/Not found 10 F508del*/R117H{ 7 F508del*/Not found 4 F508del*/3849+10 kb(C.T){ 7 F508del*/Not found 7 IVS8-5T{/Not found 1 F508del*/R347P{ 5 Not found/Not found 5 S1235E/E528E 1 F508del*/R117H{ 4 F508del*/D1152H{ 4 No mutation analysis 1 F508del*/2789+5G.A{ 4 F508del*/IVS8-5T{ 4 Total 46 F508del*/S945L* 3 F508del*/S945L* 2 2789+5G.A{/Not found 3 W1282X*/IVS8-5T{ 2 F508del*/3272-26 A.G{ 2 F508del*/R1070W{ 1 F508del*/A455E{ 2 F508del*/L159S 1 F508del*/711+5G.A 2 F508del*/T1246I 1 F508del*/2789+5G.A 2 F508del*/L165S 1 G542X*/R334W{ 2 W1282X*/D1152H{ 1 F508del*/R334W{ 2 R1162X*/D1152H{ 1 R347P{/Not found 2 R347Hu/D1152H{ 1 F508del*/2116delCTAA 1 R553X*/R117H{ 1 F508del*/IVS8-5T{ 1 3659delC*/R117H{ 1 F508del*/D1152H{ 1 3849+10kb(C.T){/G551R 1 F508del*/711+3A.G 1 R1162X*/3849+10 kb(C.T){ 1 F508del*/L206W{ 1 2789+5G.A{/Not found 1 F508del*/I336K{ 1 G542X*/T854A 1 F508del*/G970D 1 R553X*/Q1463H 1 F508del*/L159S 1 S1235R/R668C 1 F508del*/R751L 1 2789+5G.A{/S977F 1 F508del*/E656X 1 No mutation analysis 1 F508del*/4015delA 1 Total 59 F508del*/Y913S 1 F508del*/L165S 1 F508del*/2143delT 1 G551D*/I336K{ 1 G551D*/3272-26A.G{ 1 G551D*/711+3A.G 1 R553X*/4005+2T.C 1 R553X*/E92K{ 1 G542X*/L206W{ 1 W1282X*/I336K 1 R1162X*/3849+10 kb(C.T){ 1 R1162X*/2789+5G.A{ 1 574delA*/3141del9 1 9890X/I105N 1 R334W{/R1070Q{ 1 3272-26A.G{/4218insT 1 3272-26A.G{/L165S 1 711+3A.G/G1244E 1 R352Q/1812-1G.A 1 F1052V/IVS8-5T{ 1 R74W/D1270N 1 1898-3G.A/1898-3G.A 1 1717-1G.A*/R334W{ 1 3659delC*/Not found 1 394delTT/Not found 1 R1162X*/Not found 1 R553X*/Not found 1 R117H{/Not found 1 G85E*/Not found 1 3849+10k(C.T){/Not found 1 Total 103 *Mutation class I, II or III. Login to comment