ABCC7 p.Gln207Ala
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PMID: 24412276
[PubMed]
Loo TW et al: "The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds."
No.
Sentence
Comment
19
The rationale was that a V232N mutation should mimic V232D and a V232D/Q207A mutant should mature if the processing defect was caused by hydrogen bonds.
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ABCC7 p.Gln207Ala 24412276:19:71
status: NEW23 The Q207L mutation did not rescue V232D because Q207L showed about 50% maturation in the presence of corrector VX-809 while V232D/Q207A could no longer be rescued.
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ABCC7 p.Gln207Ala 24412276:23:130
status: NEW100 The V232D, V232D/Q207A, V232D/Q207L, and V232D/Q207C mutants were then expressed in the presence or absence of corrector VX-809 to test for maturation.
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ABCC7 p.Gln207Ala 24412276:100:17
status: NEW104 By contrast, none of the Gln207 mutations rescued V232D CFTR (Fig. 1B and C) as no mature CFTR was observed when mutants V232D/Q207A, V232D/Q207L, or V232D/Q207C were expressed in the presence or absence of VX-809 (Fig. 1B).
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ABCC7 p.Gln207Ala 24412276:104:127
status: NEW107 Mutations to Gln207 inhibit CFTR maturation Since V232D but not mutants V232D/Q207A, V232D/Q207L, or V232D/Q207C could be rescued with VX-809 (Fig. 1B), we tested if maturation of CFTR was also sensitive to changes to Gln207 in a wild-type background.
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ABCC7 p.Gln207Ala 24412276:107:78
status: NEW109 Mutants V232D/Q207A, L, or C do not mature.
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ABCC7 p.Gln207Ala 24412276:109:14
status: NEW112 (B) Whole cell extracts of cells expressing V232D or V232D/Q207A, L, or C mutants in the absence () or presence (+) of VX-809 were subjected to immunoblot analysis.
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ABCC7 p.Gln207Ala 24412276:112:59
status: NEW117 the Q207A, Q207L or Q207C changes.
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ABCC7 p.Gln207Ala 24412276:117:4
status: NEW184 In the presence of corrector VX-809 however, the amount of mature CFTR in mutants V510D/Q207A V510D/Q207L, V510D/Q207C, V510D/Q207E, V510D/Q207F and V510D/Q207S were significantly increased (25-85% mature product).
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ABCC7 p.Gln207Ala 24412276:184:88
status: NEW284 Although mutants such as A207A, Q207L and Q207C could be rescued with corrector VX-809 (Fig. 2), the V232D mutation appeared to have an effect that was independent of that of Gln207 since mutants Q207A/V232D, Q207L/V232D and Q207C/V232D could no longer be rescued by VX-809 (Fig. 1B).
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ABCC7 p.Gln207Ala 24412276:284:196
status: NEW