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

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.

Human genetics - 1 Jun 1990

Cooper D N, Krawczak M

Abstract excerpt

Reports of single base-pair substitutions that cause human genetic disease and that have been located and characterized in an unbiased fashion were collated; 32% of point mutations were CG----TG or CG----CA transitions consistent with a chemical model of mutation via methylation-mediated deaminat...

Topics

Amino Acid Sequence
Animals
Base Composition
Codon
DNA Mutational Analysis
Dinucleoside Phosphates
Genetic Diseases, Inborn
Humans
Models, Genetic
Molecular Sequence Data
Mutation
Software

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 2192981
DOI: 10.1007/BF00276326

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2192981-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.PMID 2192981Read ↗

Patterns and mutational signatures of tandem base substitutions causing human inherited disease.Semantic proximity Read ↗

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.Semantic proximity Read ↗

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Semantic proximity Read ↗

Impact of DNA physical properties on local sequence bias of human mutation.Semantic proximity Read ↗

Single base-pair substitutions in pathology and evolution: two sides to the same coin.Semantic proximity Read ↗

Statistical methods for identifying sequence motifs affecting point mutationsSemantic proximity Read ↗

Disease-causing mutations in the human genome.Semantic proximity Read ↗

Mutational spectrum in the recent human genome inferred by single nucleotide polymorphisms.Semantic proximity Read ↗

Exploiting CpG hypermutability to identify phenotypically significant variation within human protein-coding genes.Semantic proximity Read ↗

The amino-acid mutational spectrum of human genetic disease.Semantic proximity Read ↗

Triplex DNA and human diseaseSemantic proximity Read ↗

Low hanging fruit: a subset of human cSNPs is both highly non-uniform and predictable.Semantic proximity Read ↗

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