What are the organismal consequences of the F508 deletion ie

What are the organismal consequences of the F508 deletion? i.e. how does this mutation affect a human being?

Solution

Cystic fibrosis is a genetic disorder. The gene responsible for the cause of CF is cystic fibrosis transmembrane conductance regulator CFTR gene. The cytogenetic location of CFTR is 7q31.2. A single defect in this gene leads to cystic fibrosis (effect).

Delta-F508 is the most common defect (70%) observed in patients with CFTR defective genes, so removal of/defects in this gene precipitates the symptoms of cystic fibrosis.. The CFTR protein acts like a bridge on the cell membrane of lung cells. The CFTR protein therefore connects the exterior with the interior of the cell. Chloride ions pass in and out of the lung cell through CFTR protein channel.