ABCMdb

PMID: 14731137

Gaskin KJ
CFTR gene and cystic fibrosis.
J Gastroenterol Hepatol. 2004 Feb;19(2):228., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Arg117His ABCC7 p.Ala455Glu In contrast, patients with at least one copy of type IV and V mutations, for example R117H or A455E, usually have sufficient preservation of their exocrine pancreatic function to prevent malabsorption and are classified as pancreatic sufficient. Login to comment 23 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly542* Contributed by Kevin J Gaskin Department of Gastroenterology and James Fairfax Institute of Pediatric Nutrition,The Children`s Hospital,Westmead, NSW 2145, Australia Table 1 Classification of cystic fibrosis transmembrane conductance regulator (CFTR) mutations Type Description Example I CFTR mRNA or protein not formed G542X II CFTR trafficking defect, and protein fails to locate in cell membrane DF508 III Regulation defect. CFTR inserts into cell membrane but no response to cAMP G551D IV Channel defect. CFTR inserts into cell membrane but function is reduced R117H V Synthesis defect. CFTR inserts into membrane and functions normally, but the amount of CFTR synthesized is reduced from normal Login to comment