Standard Mutation Nomenclature in Molecular Diagnostics

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Presentation transcript:

Standard Mutation Nomenclature in Molecular Diagnostics Shuji Ogino, Margaret L. Gulley, Johan T. den Dunnen, Robert B. Wilson The Journal of Molecular Diagnostics Volume 9, Issue 1, Pages 1-6 (February 2007) DOI: 10.2353/jmoldx.2007.060081 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Example of nucleotide numbering based on a coding DNA sequence. Exonic sequences are numbered sequentially from the initiation codon to the stop codon. Untranslated sequences in the 5′- and 3′-UTRs, as well as in intronic sequences, are numbered in relation to the coding exonic sequences as shown. Note that lengths of DNA sequence are arbitrary. The Journal of Molecular Diagnostics 2007 9, 1-6DOI: (10.2353/jmoldx.2007.060081) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Example of standard mutation nomenclature based on a coding DNA sequence. Note that the amino acid change for “c.1A>T” is described as “p.0?” because amino acid changes secondary to codon 1 mutations are frequently unpredictable. In this example, c.1A>T cannot be described as “p.Met1Leu” because it either creates no protein or creates a different protein starting from a cryptic translation initiation site. One may describe the amino acid sequence change as “p.0” if there is experimental proof that no protein forms. The Journal of Molecular Diagnostics 2007 9, 1-6DOI: (10.2353/jmoldx.2007.060081) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 How to find a DNA reference sequence and HGNC-approved gene symbol. BLAST, Basic Local Alignment Search Tool; HUGO, Human Genome Organisation; NCBI, National Center for Biotechnology Information. The Journal of Molecular Diagnostics 2007 9, 1-6DOI: (10.2353/jmoldx.2007.060081) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions