What is the G551D CFTR mutation?

What is the G551D CFTR mutation?

The G551D mutation is the most prevalent gating mutation. It is caused by substitution of the amino acid glycine by aspartate at position 551 in the nucleotide binding domain-1 of the CFTR gene.

What are the most common CFTR mutations?

The most common CF mutation, F508del, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein. Without this building block, the CFTR protein cannot stay in the correct 3-D shape.

What type of mutation is delta 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 class is G551D?

To address this, we compared the clinical phenotype of patients with a G551D mutation, a Class 3 mutation, with patients homozygous for F508del and those with the missense mutation R117H (Arginine to histidine mutation of residue 117), a Class 2 and 4 mutation, respectively.

What is the second most common CFTR mutation?

The second frequent mutation was N1303K with frequency rate 15.6% (12/77), 9 (11.7%) of them were heterozygous and 3 (3.9%) were homozygous. Regarding frequency of cystic fibrosis gene mutation depending on sex, 55.8% (43/77) of mutations were found in male, whereas 44.2% (34/77) in female.

How many CFTR mutations are there 2021?

More than 2000 mutations have been identified in CFTR (CFTR1, www.genet.sickkids.on.ca (accessed on 14 April 2021)). The primary defects caused by some of these mutations, have been identified [4].

Which mutation of CFTR is the most severe and why?

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 G542X mutation?

The G542X is a nonsense mutation that introduces a stop codon into the mRNA, thus preventing normal CFTR protein synthesis.

What is a 5T variant cystic fibrosis?

The 5T variant is a common mild variant occurring in one in ten individuals in the general population. 3 It causes abnormal splicing of the CFTR gene transcript, resulting in a 90% reduction of functional CFTR protein.

How many types of cystic fibrosis are there?

Are there different types of cystic fibrosis? There are over 2,000 identified mutations of the cystic fibrosis gene.

Where is the G542X mutation?

Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the ΔF508 deletion, which accounts for 48% of CF chromosomes. G542X has a higher frequency in the Mediterranean coastal area (14%) and in the Canary Islands (25%).

What is R117H mutation?

R117H Mutation: The R117H mutation is generally considered to be a mild CF (class IV) mutation. When combined with another CF-causing variant it is associated with a broad phenotype, ranging from CF with suppurative lung disease, to no clinical disease.