ABCMdb

PMID: 16807389

Elborn JS, Bradley JM
Diagnosing CF: sweat, blood and years.
Thorax. 2006 Jul;61(7):556-7., [PubMed]

Sentences

No. Mutations Sentence Comment

193 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Over 1000 mutations of the CFTR gene have now been described, but only a proportion are associated with disease.4 Mutations of the CFTR gene which cause disease can be classified as follows: class 1, defective protein synthesis (e.g. G542X); class 2, defective protein processing (e.g. DF508); class 3, defective protein regulation (e.g. G551D). Login to comment 195 ABCC7 p.Arg117His Class 4 (e.g. R117H) and class 5 (e.g. 3849+10kbCRT and IVS8-5T) are associated with altered chloride conductance of CFTR or reduced expression and with mild phenotypes. Login to comment