ABCMdb

ABCC7 p.Arg1070Asp

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Publications

PMID: 20590134 [PubMed] Loo TW et al: "The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface."

No. Sentence Comment

5 It was also observed that introduction of the V510R/ R1070D mutations into ΔF508-CFTR also promoted maturation whereas the V510D/R1070A mutations did not. Login to comment
86 Mutant ΔF508/V510R/R1070D was constructed to reverse the positions of the charged residues. Login to comment
87 Figure 4C shows that the V510R/R1070D mutations promoted maturation of ΔF508-CFTR. Login to comment
88 Both mutations were required because the presence of V510R (Figure 1H) or R1070D (Figure 4D) alone did not promote maturation of ΔF508-CFTR. Login to comment
158 Mutation of Arg1070 to a neutral amino acid abolished V510D rescue of ΔF508-CFTR while V510R only rescued the mutant when the R1070D change was introduced (Figure 4C). Login to comment

PMID: 23378596 [PubMed] Hunt JF et al: "Cystic fibrosis transmembrane conductance regulator (ABCC7) structure."

No. Sentence Comment

256 Moreover, restoration of the trafficking of F508del-NBD1 by the V510D suppressor mutation, which introduces a negative charge into a generally apolar region J.F. Hunt et al. 16 Cite this article as Cold Spring Harb Perspect Med 2012;3:a009514 www.perspectivesinmedicine.org by Cold Spring Harbor Laboratory Press at SEMMELWEIS UNIV OF MEDICINE on December 5, of the interdomain interface (Fig. 4C,D), is strongly attenuated by introducing the R1070A or R1070D mutations that remove a complementary positive charge from the proximal surface of the TMD (Loo et al. 2010). Login to comment

PMID: 23457292 [PubMed] Chong PA et al: "Dynamics intrinsic to cystic fibrosis transmembrane conductance regulator function and stability."

No. Sentence Comment

98 Similar results are seen with an R1070W mutation, which might be expected to enhance the hydrophobic contacts at this interface or fill the void introduced by deletion of F508, or with a combined R1070D/V510R mutation, which would reverse the proposed salt bridge (Farinha et al. 2010; Loo et al. 2010). Login to comment