ABCMdb

PMID: 10445602

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., [PubMed]

Sentences

No. Mutations Sentence Comment

83 ABCC7 p.Ser1235Arg ABCC7 p.Arg668Cys ABCC7 p.Val562Ile mmol.L-1 mV gene mutation 1 F 67 51 Yes II II 0401/1401 51 20 P. aeruginosa 48 -24 DF508/- 2{ F 52 29 Yes IV IV 0406/0416 35 50 P. aeruginosa ND -31 DF508/- 3 F 35 16 II II 0311/1302 4 82 H. influenzae 18 -21 DF508/- 4 F 52 42 II II 03011/1001 4 79 ND 55 -21.0 DF508/- 5 F 56 48 II III 0101/0401 12 90 Normal flora 40 -15.3 R668C/- 6 F 59 49 III III 0401/0405 4 14 P. aeruginosa 57 ND S1235R/- 7 F 55 53 II I 0101/1001 2 92 Normal flora 42 -17.3 -/- 8 F 55 46 III III 0101/1302 3 83 Normal flora 60 -18.7 -/- 9{ F 66 20 III IV 0101/0401 4 78 P. mirabilis 35 -15.8 -/- 10 M 71 61 II III 0701/1001 67 60 Normal flora 34 -19.2 V562I/- 11 M 59 34 II III 0101/0408 53 94 H. influenzae 62 -20.8 -/- 12 F 56 30 Yes III III 0101/0311 10 89 Normal flora 53 -11.1 -/- 13 F 46 43 Yes II III 0101/0405 9 73 H. influenzae 29 -21.3 -/- 14 F 47 41 II III 03011/0401 9 80 Normal flora 86 -16.5 -/- 15 F 54 44 II II 0401/0401 1 67 Normal flora 50 -13 -/- 16 F 59 37 III III 0101/0401 3 53 H. influenzae 70 -16.8 -/- 17 F 49 47 I I 03011/1401 10 58 H. parainfluenzae 79 -18.5 -/- 18{ F 65 37 Yes III III 03011/1501 56 43 Normal flora 35 -33.8 -/- 19 F 65 54 Yes II III 0101/1101 10 91 ND 64 -9.6 -/- 20 F 70 55 III III 0101/0401 4 80 Normal flora 38 -13.5 -/- 21 F 69 53 IV IV 0101/1501 4 35 P. aeruginosa 35 ND -/- 22 M 66 63 II II 0401/1104 63 97 Normal flora 36 -20.2 -/- 23 F 61 56 I I 03011/0701 4 76 Flavobacterium spp. Login to comment 118 ABCC7 p.Ser1235Arg ABCC7 p.Arg668Cys In the RA+DB group three other mutations were found (R668C in patient 5, S1235R in patient 6 and V5621 in patient 10). Login to comment 119 ABCC7 p.Ser1235Arg ABCC7 p.Arg668Cys In the RA+DB group three other mutations were found (R668C in patient 5, S1235R in patient 6 and V5621 in patient 10). Login to comment 128 ABCC7 p.Gly542* ABCC7 p.Gly239Arg 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 129 ABCC7 p.Gly542* ABCC7 p.Gly239Arg 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 163 ABCC7 p.Ser1235Arg ABCC7 p.Val562Ile Although the V562I and S1235R mutations have been described in CF patients, the putative detrimental effect of these mutations is disputable. Login to comment 164 ABCC7 p.Ser1235Arg ABCC7 p.Arg668Cys ABCC7 p.Val562Ile Although the V562I and S1235R mutations have been described in CF patients, the putative detrimental effect of these mutations is disputable. Login to comment 165 ABCC7 p.Arg668Cys The R668C mutation was first described as a DNA polymorphism [28]. Login to comment