ABCMdb

PMID: 19707853

Mornon JP, Lehn P, Callebaut I
Molecular models of the open and closed states of the whole human CFTR protein.
Cell Mol Life Sci. 2009 Nov;66(21):3469-86. Epub 2009 Aug 26., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCC7 p.Arg1070Trp ABCC7 p.Arg1070Pro Of note, recent work has also shown that the R1070P and R1070W mutations lead, respectively, to the absence or to reduced levels of insertion of the protein into the apical membrane of polarized epithelial cells [23], suggesting that these mutations may, as DF508, affect the inter-domain interactions of CFTR. Login to comment 34 ABCC7 p.Arg1070Gln In contrast, the protein with the R1070Q mutation was found to be located at the apical membrane of the polarized epithelial cells [23]. Login to comment 35 ABCC7 p.Ser466* In our model, this last mutation leads only to a relatively limited modification of the ICL4/NBD1 interface characteristics, a finding consistent with a moderate CFTR dysfunction [24]; however, a more severe phenotype has been observed when this mutation was associated with the nonsense mutation S466X [23]. Login to comment