Naming Conventions
- Gene: HUGO Gene Nomenclature Committee (www.genenames.org)
- Sequence variants / pathogenic variants: Human Gene Variation Society (varnomen.hgvs.org)
Standard nomenclature for DNA and protein amino acid sequence. GeneReviews uses the nomenclature guidelines at varnomen.hgvs.org. If the standard nomenclature for a sequence variant cannot be determined, the variant is designated as an alias and a reference to the earliest reported description of the variant is provided.
Table 1.
Basic structure for DNA and Protein Amino Acid Sequence Nomenclature
Reference sequence. For the variant nomenclature to be valid, a reference sequence is required. Reference sequences are found at www.ncbi.nlm.nih.gov. Note:
- Reference sequences beginning with "NM" refer to coding nucleotide sequences and those beginning with "NP" refer to protein sequences.
- Genes may have multiple reference sequences. The reference sequence shown in the GeneReview matches the exon structure and reference used by the majority of citations.
Abbreviations for amino acids. GeneReviews standard is use of the 3-letter symbol for amino acids.
Table 2.
Amino Acid Abbreviations
Publication Details
Publication History
Initial Posting: May 6, 2008; Last Update: January 31, 2019.
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Publisher
University of Washington, Seattle, Seattle (WA)
NLM Citation
Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Appendix: Quick Reference. 2008 May 6 [Updated 2019 Jan 31].