ABCMdb

PMID: 16617455

Courtney JM, Plant BJ, Morgan K, Rendall J, Gallagher C, Ennis M, Kalsheker N, Elborn S, O'Connor CM
Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3' enhancer polymorphism in alpha-1-antitrypsin.
Pediatr Pulmonol. 2006 Jun;41(6):584-91., [PubMed]

Sentences

No. Mutations Sentence Comment

79 ABCC7 p.Gly551Asp ABCC7 p.Arg117His As hypothesized, the contribution of the enhancer polymorphism to the prediction of percent predicted FEV1 TABLE 2-Frequency of CFTR Alleles in Dublin and Belfast CF Populations Allele1 Frequency Dublin Belfast Full study population Disease category2 DF508 76.1% 54.3% 68.3% Nonmild G551D 6.1% 3.9% 5.3% Nonmild R117H 2.7% 4.8% 3.4% Mild 621 þ 1 G ! Login to comment 80 ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg560Thr ABCC7 p.Arg75Gln ABCC7 p.Glu60* T 1.2% 1.7% 1.4% Nonmild R560T 1.5% 1.3% 1.4% Nonmild G542X 0.7% 1.7% 1.1% Nonmild E60X 0.5% 0.9% 0.6% Mild R553X 0.0% 1.3% 0.5% Nonmild N103K 0.7% 0.0% 0.5% Nonmild 9DELTT 0.0% 0.9% 0.3% Mild 3849 þ 10 kb C > T 0.0% 0.9% 0.3% Mild R75Q 0.0% 0.9% 0.3% Mild 1717 þ 1 G > A/À 0.5% 0.0% 0.3% Mild D1507 0.5% 0.0% 0.3% Mild Minor alleles 9.5% 27.4% 15.9% Mild 1 Alleles listed individually occur at a frequency of !0.5% in either population. Login to comment