ABCMdb

PMID: 10862786

Hallows KR, Raghuram V, Kemp BE, Witters LA, Foskett JK
Inhibition of cystic fibrosis transmembrane conductance regulator by novel interaction with the metabolic sensor AMP-activated protein kinase.
J Clin Invest. 2000 Jun;105(12):1711-21., [PubMed]

Sentences

No. Mutations Sentence Comment

129 ABCC7 p.Ser1426Ala ABCC7 p.Asp1445Asn ABCC7 p.Ser1426Asp However, mutation of S1426 (S1426A and S1426D [not shown]) had no effect on the interaction strength. Mutation of Asp at 1445 to Asn (D1445N), a CF-causing mutation (Cystic Fibrosis Mutation Database at http://www.genet.sickkids.on.ca/cftr) also had no effect. Login to comment 131 ABCC7 p.Tyr1424Ala Interestingly, the mutation of Y1424A substantially diminished the interaction strength. Mutation of another possible trafficking motif in the vicinity, the di-leucine at 1430 and 1431 (40) (LL-1430,1431-AA) also dramatically reduced the interaction strength. Login to comment 224 ABCC7 p.Asp1445Asn This region contains a known CF-causing mutation (D1445N), as well as a consensus sequence for AMPK phosphorylation centered at S1426, but neither residue appears to be important for binding. Login to comment 388 ABCC7 p.Gly85Glu Structural cues involved in endoplasmic reticulum degradation The Journal of Clinical Investigation | June 2000 | Volume 105 | Number 12 of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator. J. Clin. Invest. 100:1079-1088. 34. Login to comment