ABCMdb

PMID: 10812063

Wei L, Vankeerberghen A, Jaspers M, Cassiman J, Nilius B, Cuppens H
Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR.
FEBS Lett. 2000 May 12;473(2):149-53., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Ser1235Arg ABCC7 p.Gly628Arg Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR Lin Weia , Anne Vankeerberghenb , Martine Jaspersb , Jean-Jacques Cassimanb , Bernd Niliusa , Harry Cuppensb; * a Department of Physiology, University of Leuven, B-3000 Leuven, Belgium b Center for Human Genetics, University of Leuven, Gasthuisberg OpN6, Herestraat 49, B-3000 Leuven, Belgium Received 24 March 2000 Edited by Maurice Montal Abstract The S1235R locus in CFTR was studied in combination with alleles found at the M470V and G628R loci. Login to comment 2 ABCC7 p.Gly628Arg The impact of R1235 was found to be influenced by the alleles present at the G628R and M470V loci. Login to comment 15 ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Gly628Arg The S1235R amino acid alteration is such a mutation. It was 'rst found in a cystic 'brosis (CF) patient who carried S1235R and G628R (gCc) on the same allele [9]. Login to comment 16 ABCC7 p.Ser1235Arg In compound heterozygosity with a severe mutation, the S1235R amino acid alteration alone might also result in disease. Login to comment 20 ABCC7 p.Ser1235Arg In order to get better insight into the e&#a1;ect of the S1235R mutation, on different backgrounds, the maturational pattern and the electrophysiological properties of these mutant proteins were determined. Login to comment 23 ABCC7 p.Ser1235Arg Characterization of alleles at polymorphic loci Screening for the alleles at the (TG)m (located in intron 8), Tn (located in intron 8), M470V and S1235R loci was performed as previously described [9,11]. Login to comment 29 ABCC7 p.Ser1235Arg ABCC7 p.Gly628Arg ABCC7 p.Val470Met The di&#a1;erent amino acid alterations, V470M, G628R and S1235R, were introduced using the Transformer Site-Directed Mutagenesis kit (Clontech Laboratories, Inc., Palo Alto, CA, USA). Login to comment 86 ABCC7 p.Gly628Arg Two R1235 CFTR genes were found on the normal CFTR alleles of CF mothers, one was found in a CF patient who carried a second missense mutation G628R (gCc) on the same allele [9], one was from a patient with borderline sweat chloride values who was compound heterozygote for R1235 and vF508, and two R1235 CFTR genes were found in random individuals. Login to comment 91 ABCC7 p.Ser1235Arg The allele present at the S1235R locus could not bypass this maturation defect. Login to comment 117 ABCC7 p.Gly628Arg An interaction between both nucleotide binding domains might be supported by the whole cell data obtained for the alleles at the G628R locus. Login to comment