ABCC7 p.Gln207Phe
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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
122
Expression in the presence of VX-809 promoted maturation (30-60% as mature product) of all of the mutants except Q207F or Q207W (Fig. 2A and B).
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ABCC7 p.Gln207Phe 24412276:122:113
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.Gln207Phe 24412276:184:139
status: NEW