Article
Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.
The Journal of biological chemistry - 21 Jun 1996
Seibert F S, Linsdell P, Loo T W, Hanrahan J W, Clarke D M, Riordan J R
Abstract excerpt
A cluster of 18 point mutations in exon 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been detected in patients with cystic fibrosis. These mutations cause single amino acid substitutions in the most C-terminal cytoplasmic loop (CL4, residues 1035-1102) of the CFT...
Topics
- Amino Acid Sequence
- Animals
- CHO Cells
- Cell Membrane
- Cricetinae
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Genetic Variation
- Humans
- Ion Channel Gating
- Kinetics
- Membrane Potentials
- Molecular Sequence Data