ABCC7 p.Val510Glu
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PMID: 20590134
[PubMed]
Loo TW et al: "The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface."
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We found that replacement of Val510 with acidic residues (but not neutral or positive residues) promoted maturation of ΔF508-CFTR with V510D more efficiently than V510E.
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ABCC7 p.Val510Glu 20590134:2:169
status: NEW51 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.
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ABCC7 p.Val510Glu 20590134:51:150
status: NEW53 The V510E mutation also promoted maturation, but it was less efficient than the V510D mutation (12% and 35%, respectively) (Figure 1, panels F and G).
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ABCC7 p.Val510Glu 20590134:53:4
status: NEW71 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.
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ABCC7 p.Val510Glu 20590134:71:146
status: NEW