ABCMdb

PMID: 8661502

Grygorczyk R, Tabcharani JA, Hanrahan JW
CFTR channels expressed in CHO cells do not have detectable ATP conductance.
J Membr Biol. 1996 May;151(2):139-48., [PubMed]

Sentences

No. Mutations Sentence Comment

15 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg347Pro Thus, mutations that cause mislocalization (⌬F508; [11]) or inhibit responsiveness to secretagogues (G551D; [13]) are usually associated with severe disease symptoms, whereas mutations that only partially reduce open probability (R117H; [26, 5]), single channel conductance (R347P/H; [25, 26]), or targeting to the plasma membrane (A445E; [25]) correlate with milder disease symptoms [31]. Login to comment