ABCMdb

PMID: 9799593

Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A, Kerem B
The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
Genomics. 1998 Nov 1;53(3):276-83., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC7 p.Trp1282* ABCC7 p.Gly85Glu These patients were compound heterozygous for the 3849110 kb C3T mutation and one of the following CFTR mutations: 4 patients carried the DF508 mutation, 2 carried the W1282X mutation, 3 carried the 40511 G3A mutation, and 1 carried the G85E mutation (Welsh et al., 1995) (Table 1). Login to comment 39 ABCC7 p.Trp1282* ABCC7 p.Gly85Glu These patients were compound heterozygous for the 3849ϩ10 kb C3T mutation and one of the following CFTR mutations: 4 patients carried the ⌬F508 mutation, 2 carried the W1282X mutation, 3 carried the 405ϩ1 G3A mutation, and 1 carried the G85E mutation (Welsh et al., 1995) (Table 1). Login to comment 108 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu Sex Other mutation Current age (years) Age at diagnosis (years) Sweat chloride (meq/L) Pancreatic status FVC (% predicted) FEV1 (% predicted) Aberrant transcript (% of total) 1 F ⌬F508 25 8 84 PS 92 88 0 2 F W1282X 13 13 95 PS 100 90 3 Ϯ 1 3 M G85E 11 0.3 54 PS-ϾPI 92 68 9 Ϯ 0.5 4 M ⌬F508 11 11 40 PS 51 44 22 Ϯ 1 5a M 405ϩ1 G3A 31, 32 10 63 PS 52, 40 30, 25 23 Ϯ 2, 28 Ϯ 2 6 M W1282X 19 13 97 PS 73 64 17 Ϯ 1 7b M 405ϩ1 G3A 22 5 112 PS 84 65 12 Ϯ 1 8b M 405ϩ1 G3A 21 4 74 PS 44 37 21 Ϯ 2 9b M ⌬F508 18 16 40 PS 78 46 26 Ϯ 1 10b F ⌬F508 10 8 37 PS 104 99 2 Ϯ 0.5 11c F Unknown 32 25 56 PS 25 18 46 Ϯ 2 a This patient was analyzed twice, at a year`s interval. Login to comment