ABCMdb

PMID: 16712779

Tummler B
Rescue of F508del CFTR: Commentary on "F508del CFTR with two altered RXR motifs escapes from ER quality control but its channel activity is thermally sensitive".
Biochim Biophys Acta. 2006 May;1758(5):563-4. Epub 2006 Apr 7., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCC7 p.Arg553Gln ABCC7 p.Arg553Met ABCC7 p.Arg555Lys doi:10.1016/j.bbamem.2006.03.033 Hegedus' finding also provides a clue why second-site mutations in the RXR motif in the dodecapetide of NBF1 such as R553Q, R553M and R555K partially corrected the F508del CFTR mutant phenotype in model systems [16] and in CF patients [17]. Login to comment 25 ABCC7 p.Arg553Gln CFTR mutation analysis uncovered the mutation R553Q on one F508del CF chromosome of this patient. Login to comment