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        Mutation Nomenclature

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        745
        • 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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        Table of Contents

        • Recommendations
        • Concluding Remarks
        • Figures
        • Tables
             
         
        GO TO THE FULL PROTOCOL:
        PDF or HTML at Wiley Online Library

        Materials

         
        GO TO THE FULL PROTOCOL:
        PDF or HTML at Wiley Online Library

        Figures

        •   Figure 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 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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