ABCMdb

PMID: 9511928

Seibert FS, Loo TW, Clarke DM, Riordan JR
Cystic fibrosis: channel, catalytic, and folding properties of the CFTR protein.
J Bioenerg Biomembr. 1997 Oct;29(5):429-42., [PubMed]

Sentences

No. Mutations Sentence Comment

50 ABCC7 p.Arg347Asp This anomalous mole fraction effect can be observed for CFTR, but is abolished if residue Arg 347 is mutated to Asp, suggesting that this site is involved in the interaction with permeant anions. Login to comment 51 ABCC7 p.Arg347His If Arg 347 is mutated to His, the anomalous mole fraction behavior can be turned on and off, simply by changing the pH of the bath solutions (the imidazole group of histidineispositively charged at low pH and uncharged at high pH) (Tabcharani et al, 1993). Login to comment 101 ABCC7 p.Lys464His ABCC7 p.Lys464Leu The observed Vmax of ~30 nmol/mg/min is very low compared to other ATPases such as the Ca++ -ATPase (600 nmol/mg/min; Racker, 1985) or P-glycoprotein (300-1650 nmol/mg/min; Sharom et al., 1995), although an indication of the significance of the data is given by a negative effect due to Walker A mutations K464H and K464L. Login to comment 178 ABCC7 p.Arg553Gln ABCC7 p.Arg553Met (1993) were able to identify two mutations, NBF1-located R553M and R553Q, which when introduced into AF508-CFTR partially restored the function of these chimeras. Login to comment 180 ABCC7 p.Arg553Gln Interestingly,in one patient a combination of the AF508 and the R553Q mutations was found on the same chromosome and this patient showed a mixed phenotype of severe lung and pancreatic disease, but normal sweat chloride (Dork etal, 1991). Login to comment