Molecular & genetic basis of Cystic Fibrosis
508 allele)
that removes a Phe residue
from a position near a nucleotide-binding domain [right-hand side
of diagram]. CF proteins
with this defect are destroyed by the cell, and in the absence of
Cl--channels, the Cl- / Na+ balance of the
cell is disrupted. This leads to an accumulation of mucous in the
lungs, a condition that is ultimately fatal.