ABCMdb

PMID: 17660831

Baker JM, Hudson RP, Kanelis V, Choy WY, Thibodeau PH, Thomas PJ, Forman-Kay JD
CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.
Nat Struct Mol Biol. 2007 Aug;14(8):738-45. Epub 2007 Jul 29., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Ser660Ala The R region may have an additional stimulatory role, as shown by CFTR channels lacking much of the R region (D708À835/S660A), which gate independently of PKA yet are further stimulated by the addition in trans of phosphorylated R region (residues 645À835)15. Login to comment 149 ABCC7 p.Val754Met ABCC7 p.Arg766Met ABCC7 p.Arg709Asn ABCC7 p.Ser813Pro ABCC7 p.Ser737Phe ABCC7 p.Arg735Lys ABCC7 p.Ser712Cys ABCC7 p.Arg810Gly Milder phenotypes are seen for many cystic fibrosis-causing CFTR missense mutations within the R region, consistent with this multisite behavior, and the majority of these mutations are at the PKA recognition and phosphorylation sites (R709N, S712C, R735K, S737F, V754M, R766M, R810G and S813P; http://www. Login to comment