ABCMdb

PMID: 10419506

Haardt M, Benharouga M, Lechardeur D, Kartner N, Lukacs GL
C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.
J Biol Chem. 1999 Jul 30;274(31):21873-7., 1999-07-30 [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Ser1455* ABCC7 p.Leu1399* ABCC7 p.Gln1412* Premature stop codons were as follows: Q1412X (A. Wallace and M. Tassabehji; ⌬70); S1455X and L1399X (⌬26 and ⌬82, respectively). Login to comment 39 ABCC7 p.Ile1383* ABCC7 p.Gln1411* T70 CFTR (corresponding to Q1411X) and T98 CFTR (corresponding to I1383X) were engineered by polymerase chain reaction mutagenesis (sense primer, 5Ј-TGC AAG AAT GGC CAA CTC TCG CC-3Ј; antisense primers, 5Ј-A AAG GGC CCG CTA GCA TTC CAG CAT TGC TTC-3Ј and 5Ј-AAA GGG CCC CTA TTG GTA TGT TAC TGG ATC C-3Ј) by introducing a TAG stop codon flanked with an ApaI restriction site 3Ј to nucleotides 4362 and 4278, respectively. Login to comment 86 ABCC7 p.Gln1412* RESULTS AND DISCUSSION Analysis of mutations found in the Cystic Fibrosis Genetic Consortium Database revealed that the shortest truncation, which manifests in CF with pancreatic insufficiency and recurrent pulmonary infection, is Q1412X (the genotype and clinical symptoms of the patient were kindly provided by C. J. Taylor, University of Sheffield, UK). Login to comment