Protein sequence alterations or substitutions can be describes in standardised notation. The nomenclature herein is that published by the HGVS Variant Nomenclature Committee. A sequence should begin with a prefix to denote its type (DNA, RNA, protein).
Describing variations
For proteins the general rule is p.[aa position or range][change]. [change] includes the specified change (deletion, insertion, etc) and the new sequence, or, in the case of substitution simply describes the new amino acid.
Example: p.Gly54Phe
Further reading
- den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Human Mutation. 2016;37(6):564–9.
- HGVS Nomenclature Contributors. HGVS Nomenclature. Version 21.1.3. Github pages; 2025 Jun. Link