A codified nomenclature system is required by medical geneticists to describe changes (mutations) in the sequence of deoxyribonucleic acid, ribonucleic acid and protein.
Keywords: gene; mutation; polymorphism; sequence change; genetic disease
Mutation Nomenclature
Johan T den Dunnen, Leiden University Medical Center, Leiden, Netherlands
Published online: January 2006
DOI: 10.1038/npg.els.0005472
| References | |
| Antonarakis SE and the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Human Mutation 11: 1–3. | |
| Beaudet AL and the Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Human Mutation 8: 197–202. | |
| Beutler E, McKusick VA, Motulsky A, Scriver CR and Hutchinson F (1996) Mutation nomenclature: nicknames, systematic names and unique identifiers. Human Mutation 8: 203–206. | |
| den Dunnen JT and Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation 15: 7–12. | |
| Further Reading | |
| The HUGO Mutation Database Initiative (2000) The HUGO mutation database initiative: issues, databases, and perspectives for the new millennium. Human Mutation 15(1) [http://www.wiley.com/legacy/products/subject/life/genetics/genetics_humu_mdi.html]. | |
| Web Links | |
| ePath Human Genome Variation Society (HGVS): homepage of the Human Genome Variation Society http://www.HGVS.org | |
| ePath Human Genome Variation Society (HGVS): nomenclature for the description of sequence variations with recent modifications, discussions and examples http://www.HGVS.org/mutnomen/ | |
| ePath Leiden Muscular Dystrophy pages: example of assigning database IDentifiers by a locus specific database (LSDB) http://www.dmd.nl/db_id.html | |
| ePath Leiden Muscular Dystrophy pages: nomenclature for the description of sequence variations with recent modifications, discussions and examples. http://www.dmd.nl/mutnomen.html | |
| ePath NCBI RefSeq: the Reference Sequence project (RefSeq) provides reference sequence standards for the naturally occurring molecules of the central dogma, from chromosomes to mRNAs to proteins http://www.ncbi.nlm.nih.gov/LocusLink/refseq.html | |
| ePath Online Mendelian Inheritance in Man (OMIM): database of all hereditary diseases in human with descriptions of some allelic variants http://www.ncbi.nlm.nih.gov/Omim/ | |
