Mutation Nomenclature
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- Abstract
- Table of Contents
- Figures
- Literature Cited
Abstract
As part of the Human Genome Variation Society (formerly known as the HUGO Mutation Database Initiative), a committee was formed to suggest standards for the description of sequence variants in DNA, RNA, and protein sequences. The committee proposed that the nomenclature should be unequivocal, precise, and short, and should prevent any possible confusion and follow existing practice as much as possible. To ?spread the word,? the nomenclature rules were published at regular intervals. This unit summarizes these nomenclature recommendations, which stimulated a uniform and unequivocal description of sequence variants in literature.
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- Recommendations
- Concluding Remarks
- Figures
- Tables
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Figure 7.13.1 The basic elements of a gene and their names. Also indicated (bottom) are the extent and imaginary numbering of a genomic, cDNA/mRNA, and protein reference sequences. UTR = untranscribed region. View Image -
Figure 7.13.2 The elementary types of sequence variants covered. Indicated are examples for each type in relation to a normal DNA (left) and protein (right) sequence. Extensive descriptions of the variants are presented in the text. View Image
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Literature Cited
| Literature Cited | |
| Antonarakis, S.E. and the Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum. Mutat. 11:1‐3. | |
| Beaudet, A.L. and Tsui, L.C. 1993. A suggested nomenclature for designating mutations. Hum. Mutat. 2:245‐248. | |
| Cotton, R.G. and Horaitis, O. 2000. Quality control in the discovery, reporting, and recording of genomic variation. Hum. Mutat. 15:16‐21. | |
| den Dunnen, J.T. and Antonarakis, S.E. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum. Mutat. 15:7‐12. | |
| Stadman, T.C. 1996. Selenocysteine. Annu. Rev. Biochem. 65:83‐100. | |
| Wain, H.M., Bruford, E.A., Lovering, R.C., Lush, M.J., Wright, M.W., and Povey, S. 2002. Guidelines for human gene nomenclature. Genomics 79:464‐70. | |
| Internet Resources | |
| http://www.gene.ucl.ac.uk/nomenclature/ | |
| HUGO Gene Nomenclature Committee (HGNC). | |
| http://www.HGVS.org/ | |
| Human Genome Variation Society (HGVS). | |
| http://www.HGVS.org/mutnomen/ | |
| Web page for mutation nomenclature rules. | |
| http://www.ddbj.nig.ac.jp/ | |
| DNA Data Bank of Japan (DDBJ). | |
| http://www.ebi.ac.uk/ | |
| European Bioinformatics Institute (EBI). | |
| http://www.ncbi.nlm.nih.gov/ | |
| National Center for Biotechnology Information (NCBI) at the U.S. National Institutes of Health. | |
| http://www.ncbi.nlm.nih.gov/LocusLink/refseq.html | |
| NCBI reference sequences (RefSeq). | |
| http://www.genomic.unimelb.edu.au/mdi/dblist/glsdb.html | |
| Locus Specific DataBases (LSDB). | |
| http://hgvbase.cgb.ki.se/ | |
| Human Genome Variation database (HGVbase). | |
| http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html | |
| Human Gene Mutation Database (HGMD). | |
| http://www.ncbi.nlm.nih.gov/Omim/ | |
| Online Mendelian Inheritance in Man (OMIM). |
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