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A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 1993

J P Cheadle, and L N al-Jader, and A L Meredith
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.

UI MeSH Term Description Entries
D008565 Membrane Proteins Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001176 Arthrogryposis Persistent flexure or contracture of a joint. Amyoplasia Congenita,Arthromyodysplasia, Congenital,Guerin-Stern Syndrome,Myodystrophia Fetalis Deformans,Arthrogryposis Multiplex Congenita,Arthrogryposis Multiplex Congenita (AMC),Congenital Arthromyodysplasia,Congenital Multiple Arthrogryposis,Fibrous Ankylosis of Multiple Joints,Guérin-Stern Syndrome,Otto Syndrome,Rocher-Sheldon Syndrome,Rossi Syndrome,Arthrogryposes,Arthrogryposes, Congenital Multiple,Arthrogryposis Multiplex Congenitas,Arthrogryposis Multiplex Congenitas (AMC),Arthrogryposis, Congenital Multiple,Arthromyodysplasias, Congenital,Congenita, Arthrogryposis Multiplex,Congenita, Arthrogryposis Multiplex (AMC),Congenital Arthromyodysplasias,Congenital Multiple Arthrogryposes,Congenitas, Arthrogryposis Multiplex,Congenitas, Arthrogryposis Multiplex (AMC),Guerin Stern Syndrome,Guérin Stern Syndrome,Multiple Arthrogryposes, Congenital,Multiple Arthrogryposis, Congenital,Multiplex Congenita, Arthrogryposis,Multiplex Congenita, Arthrogryposis (AMC),Multiplex Congenitas, Arthrogryposis,Multiplex Congenitas, Arthrogryposis (AMC),Rocher Sheldon Syndrome,Syndrome, Guerin-Stern,Syndrome, Guérin-Stern,Syndrome, Otto,Syndrome, Rocher-Sheldon,Syndrome, Rossi
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations
D019005 Cystic Fibrosis Transmembrane Conductance Regulator A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8) CFTR Protein,Chloride channels, ATP-gated CFTR,Chloride channels, ATP gated CFTR,Protein, CFTR

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