Appendix: Quick Reference

Publication Details

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Naming Conventions

Standard nomenclature for DNA and protein amino acid sequence. GeneReviews uses the nomenclature guidelines at 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.

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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 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.

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Table 2.

Amino Acid Abbreviations