What type of mutation is R117H?

What type of mutation is R117H?

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.

Is the CFTR gene on chromosome 7?

The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7. Mutations in this gene lead to CF. Since the discovery of the CFTR gene in 1989, more than 2,500 mutations have been identified.

What is wrong with chromosome 7 in CF?

Cystic fibrosis (CF) is a major cause of pancreatic exocrine failure in children. It is an autosomal recessive disorder caused by a mutation in the CFTR gene on chromosome 7 leading to a defective cyclic-AMP dependent chloride channel function.

Where is chromosome 7 cystic fibrosis?

Cystic Fibrosis. Cystic Fibrosis (CF) is an inherited disorder that affects multiple systems. It is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which is located on the long arm of chromosome 7.

What is a poly T tract?

Poly(A/T) tracts are abundant simple sequence repeats (SSRs) within the human genome. They constitute part of the coding sequence of a variety of genes, encoding polylysine stretches that are important for protein function.

What is CFTR 5T?

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.

What genes are in chromosome 7?

Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells….

Chromosome 7
RefSeq NC_000007 (FASTA)
GenBank CM000669 (FASTA)

What does chromosome 7 affect?

Abnormalities involving the inheritance of chromosome 7 can cause Russell-Silver syndrome, a rare condition characterized by slow growth, distinctive facial features, delayed development, speech and language problems, and learning disabilities.

Why is chromosome 7 important?

Studies suggest that some genes on chromosome 7 may play critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in a cancerous tumor.

What are CFTR-related disorders?

CFTR-related disorders refer to a group of diseases that are associated with CF mutations but do not meet diagnostic criteria for CF. Congenital absence of the vas deferens (CAVD) is the most well-characterized of these disorders, where 80% of affected individuals are found to have CF mutations.

How many variants of cystic fibrosis are there?

More than 1,700 mutations of the CFTR gene have been identified. Although some are common, others are rare and found in only a few people.

What are the different types of cystic fibrosis?

There are five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein. The most common CF mutation, F508del, is primarily considered to be a protein processing mutation.

What is the R117H variant of the CFTR gene?

The R117H variant in the CFTR gene has been reported multiple times previously as a common variant in the CFTR gene (Moskowitz et al., 2008). R117H is a class IV variant which results in defective protein conductance but allows for some residual CFTR function (De Boeck et al., 2014).

How does R117H occur in CIS?

R117H can occur in cis with either the polypyrimidine stretch T5 or T7 [6]. The T5 variant in intron 8 of the CFTR gene leads to improper splicing, removing exon 9 from 90% of the CFTR protein produced.

How does adenosine activate wild-type and R117H CFTR?

Adenosine and its nucleotides activate wild-type and R117H CFTR through an A2B receptor-coupled pathway. Heterogeneity in hereditary pancreatitis.