ABCMdb

ABCC7 p.Gly239Arg

ClinVar:	c.715G>A , p.Gly239Arg ? , not provided
CF databases:	c.715G>A , p.Gly239Arg (CFTR1) ? , This missense mutation in exon 6a of the CFTR gene was detected by heteroduplex-MDE analysis of DNA amplified by PCR with exon 6a specific primers (6ai-5, 5'-TTAGTGTGCTCAGAACCACG-3' and 6ai-3. 5'-CTATGCATAGAGCAGTCCTG-3'). Direct sequencing showed G to A transition at the nucleotidew position 847, which changes glycine to arginine at the amino acid position 239. The G239R allele was found once among 192 CF chromosomes screened for mutations in exon 6a. Mutation on the other chromosome of the pancreatic sufficient (PS) patient is unknown.
Predicted by SNAP2:	A: N (72%), C: N (78%), D: D (53%), E: D (63%), F: N (66%), H: N (57%), I: N (61%), K: D (71%), L: N (61%), M: N (53%), N: N (61%), P: D (59%), Q: N (53%), R: N (57%), S: N (72%), T: N (66%), V: N (78%), W: D (63%), Y: N (66%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

[switch to compact view]
Comments [show]

None has been submitted yet.

Publications
[hide] Increased frequency of cystic fibrosis deltaF508 m... Eur Respir J. 1999 Jun;13(6):1281-7. Puechal X, Fajac I, Bienvenu T, Desmazes-Dufeu N, Hubert D, Kaplan JC, Menkes CJ, Dusser DJ
Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis.
Eur Respir J. 1999 Jun;13(6):1281-7., [PMID:10445602]

Abstract [show]
This study investigated the clinical characteristics and the possible involvement of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients with symptomatic diffuse bronchiectasis (DB) associated with rheumatoid arthritis (RA). Twenty-six patients with both RA and DB (group RA+DB) and control groups of 29 consecutive patients with RA but no bronchiectasis (group RA) and 29 patients with symptomatic DB of unknown origin (group DB) were prospectively studied. Among the patients of the RA+DB group, four (15.4%) were heterozygous for the CFTR gene deltaF508 mutation, whereas no deltaF508 mutation was found in patients of the RA and the DB groups (both, p<0.05). This frequency of deltaF508 mutation was also higher than the expected frequency (2.8%) in the general European population (p<0.04). Sweat chloride values and nasal potential differences were normal in three out of four patients carrying the deltaF508 mutation. In the RA+DB group, those with deltaF508 mutation had more frequent chronic sinusitis (p<0.05), a trend toward a more severe pulmonary involvement, and a lower value of nasal potential differences (p<0.01) whereas their rheumatic features had no particularity. In the RA+DB group, patients with adult-onset bronchiectasis (including two with deltaF508 mutation) had a greater reduction in total lung capacity (p<0.05) and lower nasal potential differences (p<0.005) than those with childhood-onset bronchiectasis. This study suggests a possible deleterious effect of the cystic fibrosis transmembrane conductance regulator mutated protein in the airways which may predispose to the development and severity of bronchiectasis in patients suffering from rheumatoid arthritis.

Comments [show]

None has been submitted yet.

Sentences [show]
No. Sentence Comment
129 In the DB group, two patients carried mutations: one was compound heterozygous (G542X/3849+ 10Kb CRT) and was diagnosed as suffering from an atypical CF with a normal sweat chloride concentration, while the other was heterozygous for the missense mutation G239R with normal values of both sweat chloride concentrations and nasal potential differences. Login to comment
128 In the DB group, two patients carried mutations: one was compound heterozygous (G542X/3849+ 10Kb CRT) and was diagnosed as suffering from an atypical CF with a normal sweat chloride concentration, while the other was heterozygous for the missense mutation G239R with normal values of both sweat chloride concentrations and nasal potential differences. Login to comment