A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene

Cystic Fibrosis (CF) is the most common severe autosomal recessive disorder of the Caucasian population, with an estimated incidence of 1/2500 and a heterozygote (carrier) frequency of 1/25. Recently the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the most common mutation de...

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Bibliographic Details
Published in:Human molecular genetics 1992-05, Vol.1 (2), p.123-125
Main Authors: Cheadle, Jeremy P., Meredith, Alison L., Al-Jader, Layla N.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Child, Preschool
cystic fibrosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
DNA Mutational Analysis
Exons
Gastroenterology. Liver. Pancreas. Abdomen
genes
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
man
Medical sciences
Membrane Proteins - genetics
missense mutant
Molecular Sequence Data
Mutation
Other diseases. Semiology
transmembrane conductance regulator
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Summary:Cystic Fibrosis (CF) is the most common severe autosomal recessive disorder of the Caucasian population, with an estimated incidence of 1/2500 and a heterozygote (carrier) frequency of 1/25. Recently the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the most common mutation delta F508, were identified. The predicted protein, consisting of 1480 amino acids, contains two nucleotide binding folds, a regulatory domain and two membrane spanning domains. Since the characterisation of the gene, further mutations have been identified, although the majority are reported only in individual cases.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/1.2.123