ABCMdb

ABCC7 p.Val510Arg

None has been submitted yet.

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
51 HEK 293 cells weretransfected withthe cDNAof wild-type CFTR (Figure 1E) or mutants ΔF508 (Figure 1, panels E-H), V510D/ΔF508 (Figure 1F), V510E/ΔF508 (Figure 1G), and V510R/ΔF508 (Figure 1H), and whole cell SDS extracts were subjected to immunoblot analysis 18 h after transfection. Login to comment
54 Little mature CFTR was observed in mutant ΔF508 (Figure 1, panels E-H) or V510R/ΔF508 (Figure 1H). Login to comment
71 Whole cell extracts of HEK 293 cells expressing full-length wild-type (E) or ΔF508-CFTRs (E-H) or ΔF508-CFTR containing the V510D(F), V510E (G), or V510R mutation (H) were subjected to immunoblot analysis 18 h after transfection. 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: 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