ABCC7 p.Gln207Ser
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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
182
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.Gln207Ser 24412276:182:138
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.Gln207Ser 24412276:183:127
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.Gln207Ser 24412276:184:155
status: NEW