ABCMdb

ABCC7 p.Asp651Asn

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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
100 The D648V (2075A!T) (31), D651N (2083G!A) (32) and G654S (2092A!G) (http://www.genet.sickkids.on. Login to comment
125 The minigene carrying the D651N mutation yielded two species of aberrantly spliced products. Login to comment
126 Firstly, the G to A substitution responsible for D651N, located 10 nt upstream of the 195-cryptic 30 splice site (Fig. 3A), apparently enhanced the usage of this site (Fig. 3B, lane 5) increasing the ratio of the D195 over the wt transcript by 3-fold (Fig. 3D). 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
162 (B) 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 2074G!T, D648V, 2076T!A, D651N and G654S 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
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: 9921909 [PubMed] Bombieri C et al: "Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease."

No. Sentence Comment

4 Four new mutations were identified: D651N, 2377C/T, E826K, and P1072L. Login to comment
63 Three novel mutations were first identified in this study: D651N, E826K, and P1072L. Login to comment
73 D651N, a G to A transition was detected at nucleotide 2083 in exon 13, which codes for the regulatory domain of CFTR. Login to comment
88 of cases CFTR gene PolyTb status tested mutationa DBE 23 1 G576A-R668C/L997F 7/9 1 ∆F508/L997F 9/9 1 ∆F508/- 7/9 1 R1066C/- 5/7 1 3667ins4/- 5/7 1 R75Q/- 7/7 1 M1137V/- 7/7 1 -/- 5/5 3 -/- 5/7 10 -/- 7/7 2 -/- 7/9 CB 27 1 P111L/- 7/7 1 R117H/- 7/7 1 E585X/- 7/7 1 P1072L/- 7/7 1 -/- 5/7 15 -/- 7/7 6 -/- 7/9 1 -/- 9/9 E 25 1 R668C/- 7/7 6 -/- 5/7 16 -/- 7/7 6 -/- 7/9 S 8 1 E826K/- 7/7 1 ∆F508/- 7/9 1 4382delA/- 7/7 1 L997F/- 7/9 1 V754M/- 7/9 3 -/- 7/7 LC 26 1 I148T/- 5/7 1 D1270N-R74W 5/7 1 D651N/- 7/7 1 Y301C/- 7/7 1 -/- 5/7 16 -/- 7/7 5 -/- 7/9 TB 4 1 -/- 5/7 1 -/- 7/7 2 -/- 7/9 Pneumonia 5 4 -/- 7/7 1 -/- 5/7 Pnx 2 2 -/- 7/7 Controls 68 1 L997F/- 7/9 1 R31C/- 7/7 1 I506V/- 5/7 1 -/- 5/7 1 -/- 5/9 23 -/- 7/7 4 -/- 7/9 1 -/- 9/9 2 ? Login to comment

PMID: 11001817 [PubMed] Chen JM et al: "Definition of a "functional R domain" of the cystic fibrosis transmembrane conductance regulator."

No. Sentence Comment

32 Another missense mutation D651N that changes a conserved, negatively charged residue was reported to be a neutral polymorphism (11). Login to comment