ABCMdb

PMID: 15888700

Rowe SM, Miller S, Sorscher EJ
Cystic fibrosis.
N Engl J Med. 2005 May 12;352(19):1992-2001., 2005-05-12 [PubMed]

Sentences

No. Mutations Sentence Comment

119 ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu ABCC7 p.Gly91Arg Like ∆F508, several other clinically important mutations - such as N1303K, G85E, and G91R - lead to misfolded CFTR protein that is prematurely degraded. Login to comment 120 ABCC7 p.Gly542* About 5 to 10 percent ofCFTR mutations are due toprematuretruncationornonsensealleles(designated by "X," such as G542X, a class I mutation). Login to comment 123 ABCC7 p.Gly551Asp For example, the G551D mutation (class III) is believed to possess little or no chloride-channel function in vivo because of abnormal function of a nucleotide-bindingdomain,resultingindisordered regulation. Login to comment 124 ABCC7 p.Ala455Glu The A455E mutation (class IV) exhibits onlypartialCFTRion-channelactivity,afeaturethat probably explains a less severe pulmonary phenotype.47 Other mutation classes include reduced numbers of CFTR transcripts (class V) and defective CFTR stability at the cell surface (class VI).48-50 Insight into the cellular consequences of defective CFTR suggests a role for tailored therapies, a predominant theme in clinical research on cystic fibrosis. Login to comment