ABCMdb

PMID: 9401049

Goldman BS, Sherman DA, Kranz RG
Comparison of the bacterial HelA protein to the F508 region of the cystic fibrosis transmembrane regulator.
J Bacteriol. 1997 Dec;179(24):7869-71., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Phe508Cys ABCC7 p.Phe508Arg Previous studies have established that CFTR F508⌬ or F508R proteins are defective but F508C is functional. Login to comment 43 ABCC7 p.Phe508Arg It has been demonstrated that the CFTR F508⌬ and a site-directed mutant, CFTR F508R, are defective in intracellular transport and processing, and thus folding (4). Login to comment 55 ABCC7 p.Phe508Arg It is particularly intriguing that the HelA F88R and the CFTR F508R mutants are both defective, whereas with other substitutions (e.g., cysteine) function is retained. Login to comment 63 ABCC7 p.Phe508Arg The CFTR mutation F508R (marked with a asterisk) was found to be defective in COS-7 cells (4) and was not associated with a CF patient. Login to comment 64 ABCC7 p.Phe508Cys The CFTR F508⌬ was from many CF patients and in vitro analyses, and F508C was found in a benign case (20). Login to comment