ABCC7 p.Gln207Cys
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PMID: 9724537
[PubMed]
Akabas MH et al: "Channel-lining residues in the M3 membrane-spanning segment of the cystic fibrosis transmembrane conductance regulator."
No.
Sentence
Comment
113
In contrast, a 1-min application of 10 mM MTSES- significantly inhibited the CFTR-induced currents for the mutants H199C, F200C, W202C, I203C, P205C, Q207C, and L211C (Figure 4).
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ABCC7 p.Gln207Cys 9724537:113:150
status: NEW
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
99
Gln207 does not appear to be essential for activity since it was found that the Q207C CFTR mutant was active when expressed in frog oocytes [32].
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ABCC7 p.Gln207Cys 24412276:99:80
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.Gln207Cys 24412276:100:47
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.Gln207Cys 24412276:104:156
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.Gln207Cys 24412276:107:107
status: NEW117 the Q207A, Q207L or Q207C changes.
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ABCC7 p.Gln207Cys 24412276:117:20
status: NEW182 It was observed that in the absence of VX-809, the V510D mutation significantly improved the maturation of Q207L, Q207C, Q207E, Q207N and Q207S (Fig. 6A and B).
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ABCC7 p.Gln207Cys 24412276:182:114
status: NEW183 Mature CFTR was the major product in Q207N/V510D (90% mature product) while mutants Q207L/V510D, Q207C/V510D, Q207E/V510D, and Q207S/V510D showed modest levels of mature CFTR (about 20-40% mature).
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ABCC7 p.Gln207Cys 24412276:183:97
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.Gln207Cys 24412276:184:113
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.Gln207Cys 24412276:284:42
status: NEWX
ABCC7 p.Gln207Cys 24412276:284:225
status: NEW