What kind of mutation is F508?

What kind of mutation is F508?

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.

What is a Class 3 mutation?

Insufficient protein mutations result in a reduced amount of normal CFTR protein at the cell surface.

What is the most common class II mutation in CF?

F508del, the most common CFTR mutation that causes CF, is found in up to 80% to 90% of people with CF.

What is a Class 1 mutation?

Class I mutations include PTCs or nonsense codons. A nonsense mutation is a single point alteration in DNA that results in the inappropriate presence of a UAA, UAG, or UGA stop codon in the protein-coding region of the corresponding messenger RNA (mRNA) transcript.

Is CF dominant or recessive?

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

Which class of CF is most severe?

Class I-III mutations are considered more severe forms of CF because there is no residual CFTR function. Class IV-VI mutations are more common for those under age 10 and those who are 50 and older.

What is atypical CF?

Atypical CF is a milder form of the CF disorder, which is associated with mutations of the cystic fibrosis transmembrane receptor gene. Instead of having classic symptoms, individuals with atypical CF might only have mild dysfunction in 1 organ system and might or might not have elevated sweat chloride levels.

Can you have a mild case of cystic fibrosis?

While cystic fibrosis is usually diagnosed in childhood, adults with no symptoms (or mild symptoms) during their youth can still be found to have the disease.

Are there different strains of cystic fibrosis?

Are there different types of cystic fibrosis? There are over 2,000 identified mutations of the cystic fibrosis gene. Cystic fibrosis is a very complex condition that affects people in different ways. Some suffer more with their digestive system than the lungs.

How CF is diagnosed?

The sweat chloride test is the most commonly used test for diagnosing CF. It checks for increased levels of salt in the sweat. The test is performed by using a chemical that makes the skin sweat when triggered by a weak electric current. Sweat is collected on a pad or paper and then analyzed.

What genetic mutation causes CF?

Summary. Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body …