ABCC7 p.Gly1069Cys

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PMID: 18305154 [PubMed] Serohijos AW et al: "Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function."
No. Sentence Comment
71 Cross-linking of Cys pairs F508C/L1065C, F508C/F1068C, F508C/G1069C, and F508C/F1074C confirms that Phe-508 in NBD1 associates with CL4 in MSD2 (Fig. 3 and SI Fig. 7).
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ABCC7 p.Gly1069Cys 18305154:71:61
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80 Cross-linking also occurs between cysteines substituted for another hydrophobic residue (Val-510) near Phe-508 on the NBD1 surface and G1069C in CL4 (SI Fig. 8).
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ABCC7 p.Gly1069Cys 18305154:80:135
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81 In addition to the Phe-508-containing NBD1 surface patch, residues in other regions of the domain also interact with CL4 residues as evidenced by cross-linking of Cys pairs involving amino acids closer to the Q loop (Gln-493), including W496C/T1064C and M498C/L1065C as well as nearer the Walker B motif (Asp-572) such as K564C/G1069C (Fig. 3A and SI Fig. 8).
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ABCC7 p.Gly1069Cys 18305154:81:328
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84 Nevertheless, the proximity or relative orientation of the F508C/F1068C, F508C/G1069C, and V510C/G1069C pairs permitted very little disulfide bond formation on oxidation catalyzed by copper phenanthroline, i.e., only a very small proportion of mature band was converted to cross-linked band Fig. 2.
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ABCC7 p.Gly1069Cys 18305154:84:79
status: NEW
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ABCC7 p.Gly1069Cys 18305154:84:97
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97 Phe-508 participates in an apparent aromatic cluster with residues from CL4(seealsoSIFig.10).CL4alsointeractswithotherregionsinNBD1assuggested by cross-linking of residues close to the Q loop (W496C/T1064C and M498C/ L1065C) and a residue near the Walker B motif (K564C/G1069C).
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ABCC7 p.Gly1069Cys 18305154:97:270
status: NEW
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PMID: 20233947 [PubMed] He L et al: "Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR."
No. Sentence Comment
123 Cys- pair cross-linking also was not observed with Cys pairs at V510C/G1069C and K564C/G1069C in the NBD1/ CL4 interface of ⌬F508-CFTR (Fig. 3B).
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ABCC7 p.Gly1069Cys 20233947:123:70
status: NEW
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ABCC7 p.Gly1069Cys 20233947:123:87
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126 In addition, Cys pairs V510C/G1069C and K564C/G1069C at the NBD1/CL4 interface also were able to be cross-linked by M3M and M8M (Fig. 3B).
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ABCC7 p.Gly1069Cys 20233947:126:29
status: NEW
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ABCC7 p.Gly1069Cys 20233947:126:46
status: NEW
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205 This may reflect the involvement of this loop in the NBD1/CL4 interface, as shown with the cross-linking of V510C/ G1069C in the mature but not in the immature form (18).
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ABCC7 p.Gly1069Cys 20233947:205:115
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PMID: 20561529 [PubMed] Aleksandrov AA et al: "Regulatory insertion removal restores maturation, stability and function of DeltaF508 CFTR."
No. Sentence Comment
154 HEK 293 cells were transiently transfected with Cys-less ΔF508 CFTR with Cys pairs introduced at the CL2-NBD2 (C276-Q1280C) or CL4-NBD1 (V510C-G1069C) interfaces in the absence or presence of ΔRI.
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ABCC7 p.Gly1069Cys 20561529:154:149
status: NEW
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PMID: 15581632 [PubMed] Buyse F et al: "Mistargeted MRPdeltaF728 mutant is rescued by intracellular GSH."
No. Sentence Comment
154 HEK 293 cells were transiently transfected with Cys-less ΔF508 CFTR with Cys pairs introduced at the CL2-NBD2 (C276-Q1280C) or CL4- NBD1 (V510C-G1069C) interfaces in the absence or presence of ΔRI.
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ABCC7 p.Gly1069Cys 15581632:154:150
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PMID: 22406676 [PubMed] Aleksandrov AA et al: "Allosteric modulation balances thermodynamic stability and restores function of DeltaF508 CFTR."
No. Sentence Comment
155 Using an otherwise Cys-less construct, we had previously observed methanethiosulfonate-mediated cross-linking between V510C and G1069C in WT CFTR.29,33 Figure 7 shows similar cross-linking of this pair of residues in ΔF/4PT CFTR, providing evidence that the stabilization of ΔF508 NBD1 can Fig. 6.
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ABCC7 p.Gly1069Cys 22406676:155:128
status: NEW
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178 HEK293 cells were transiently transfected with Cys-less CFTR or Cys-less ΔF508-CFTR in the presence or absence of the 4PT mutations (S422P/S434P/S492P/A534P/I539T), with the Cys pair V510C/G1069C introduced at the CL4/NBD1 interface.
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ABCC7 p.Gly1069Cys 22406676:178:194
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279 Briefly, HEK cells transiently expressing Cys-less CFTR constructs with V510C and G1069C substitutions on the WT or ΔF/4PT CFTR basis grown on 35-mm tissue culture dishes were harvested, washed twice in PBS, and resuspended in 60 μl of PBS.
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ABCC7 p.Gly1069Cys 22406676:279:82
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PMID: 23104983 [PubMed] He L et al: "Correctors of DeltaF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein."
No. Sentence Comment
126 HEK293 cells were transiently transfected with Cys-less CFTR or Cys-less èc;F508 CFTR with Cys pairs 276C/Q1280C or V510C/G1069C, introduced at NBD2/CL2 and NBD1/CL4 interfaces, respectively (13).
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ABCC7 p.Gly1069Cys 23104983:126:126
status: NEW
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