Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Nature - 26 Jul 1990

Cutting G R, Kasch L M, Rosenstein B J, Zielenski J, Tsui L C, Antonarakis S E, Kazazian H H

Abstract excerpt

The gene responsible for cystic fibrosis (CF) has recently been identified and is predicted to encode a protein of 1,480 amino acids called the CF transmembrane conductance regulator (CFTR). Several functional regions are thought to exist in the CFTR protein, including two areas for ATP-binding, termed nucleotide-binding folds (NBFs), a regulatory (R) region that has many possible sites for phosphorylation by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Binding Sites

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to Membrane Proteins

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1695717
DOI: 10.1038/346366a0

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.PMID 1695717Read ↗

Cystic fibrosis gene.Semantic proximity Read ↗

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.Semantic proximity Read ↗

Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.Semantic proximity Read ↗

High conservation of sequences involved in cystic fibrosis mutations in five mammalian species.Semantic proximity Read ↗

[The cystic fibrosis gene, its product CFTR protein and its mutations].Semantic proximity Read ↗

Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator.Semantic proximity Read ↗

The cystic fibrosis gene and its product CFTR.Semantic proximity Read ↗

Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.Semantic proximity Read ↗

A frame-shift mutation in the cystic fibrosis gene.Semantic proximity Read ↗

Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease.Semantic proximity Read ↗

Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.Semantic proximity Read ↗

Benign missense variations in the cystic fibrosis gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.