What is the frameshift mutation in cystic fibrosis?
The mutation introduces a termination codon in exon 13 of the CFTR gene at residue 821, and is predicted to result in the production of a severely truncated nonfunctional protein.
What is the delta F508 mutation?
The most common mutation in the gene associated with cystic fibrosis (CF) causes deletion of phenylalanine at residue 508 (delta F508) of the gene product called CFTR. This mutation results in the synthesis of a variant CFTR protein that is defective in its ability to traffic to the plasma membrane.
Is CF a frameshift mutation?
We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations–CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues …
What are the 3 most common types of mutations that cause cystic fibrosis?
Protein production mutations (Class 1) Protein processing mutations (Class 2) Gating mutations (Class 3)
What does the CFTR gene do?
The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. When the protein is not working correctly, chloride — a component of salt — becomes trapped in cells.
What does the Delta F508 mutation do to the lungs?
The most common mutation – called delta F508 – causes people to lose a small bit of genetic sequence in each of the genes that makes CFTR. This leads to one crucial building block being left out. As a result, the protein doesn’t fold properly and is destroyed by the body, leaving its cells short of CFTR.
Which is a frameshift mutation?
A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three.
How does cystic fibrosis affect the pancreas?
The thickened secretions can block the ducts in the pancreas. This blockage causes a drop in the amount of digestive enzymes the pancreas puts out. Because of this, a child with CF has trouble absorbing fats, some proteins, and fat-soluble vitamins A, D, E, and K. The problems with the pancreas can get very severe.