ABCMdb

PMID: 11897641

Selvadurai HC, McKay KO, Blimkie CJ, Cooper PJ, Mellis CM, Van Asperen PP
The relationship between genotype and exercise tolerance in children with cystic fibrosis.
Am J Respir Crit Care Med. 2002 Mar 15;165(6):762-5., 2002-03-15 [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Trp1282* ABCC7 p.Gly542* Examples of class I mutations are G542X and W1282X. Login to comment 15 ABCC7 p.Asn1303Lys The most common mutation, ⌬F508 and the N1303K mutation belong to class II mutations and result in defects in protein processing. Login to comment 17 ABCC7 p.Gly551Asp Class III mutations, of which G551D is an example, are regulatory mutations in which protein reaches the surface of the cell but fails to respond consistently to cyclic AMP activation signals. Login to comment 19 ABCC7 p.Arg117His ABCC7 p.Arg347Pro The genes R117H and R347P are examples of class IV mutations. Login to comment 81 ABCC7 p.Trp1282* ABCC7 p.Arg553* I G542 (6), R553X (3), W1282X (3), 3659delC (1), 3905insT (2). Login to comment 82 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Arg560Thr ABCC7 p.Ala559Thr II ⌬F508 (36), W1282X (1) III G551D (10), N1303K (4), R560T (2), A559T (1) IV R117H (14), R347H (3) V 3849 ϩ 10KbC→T (7), 3120G→A (3) AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE VOL 165 2002 All patients were recruited from a single center, and the sample size of this study was large compared with previously published studies of exercise capacity in children with CF (21). Login to comment