ABCMdb

PMID: 9822639

Pasyk EA, Morin XK, Zeman P, Garami E, Galley K, Huan LJ, Wang Y, Bear CE
A conserved region of the R domain of cystic fibrosis transmembrane conductance regulator is important in processing and function.
J Biol Chem. 1998 Nov 27;273(48):31759-64., 1998-11-27 [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Asp614Gly ABCC7 p.Leu619Ser ABCC7 p.Ile618Thr One of these mutants, L619S, exhibits no detectable function, whereas the other two, D614G and I618T, exhibit partial activity as chloride channels. Login to comment 40 ABCC7 p.Leu619Ser One of these RD1 mutants, L619S, failed to exhibit chloride channel function in two electrode voltage clamp studies and hence is likely to reside in a region critical for this activity. Login to comment 41 ABCC7 p.Asp614Gly ABCC7 p.Ile618Thr The two other mutants, D614G and I618T, exhibited partial function in two-electrode voltage clamp experiments and could be studied at the single channel level, wherein it was revealed that they exhibited altered rates of channel opening. Login to comment 130 ABCC7 p.Asp614Gly ABCC7 p.Leu619Ser ABCC7 p.Ile618Thr Single Channel Analysis Reveals Defects in Channel Opening by CFTR D614G and I618T-We know from the previous whole cell studies that the L619S mutation causes severe dysfunction of the CFTR channel activity because, despite expression of this mutant protein at the cell surface (Fig. 3), cyclic AMP-activated chloride currents were not detected (Fig. 4). Login to comment 132 ABCC7 p.Leu610Ser On the other hand, for the mutant proteins, ⌬607-634 and L610S, insufficient protein reached the surface (Fig. 3) to perform single channel analysis. Login to comment 173 ABCC7 p.Leu619Ser Mutation of the leucine residue at position 619 to serine has a profound inhibitory effect on channel activity, such that whole cell currents cannot be detected despite significant cell surface expression. Login to comment