rare_amino_acid_variant
SO:0002008
Definition: A sequence variant whereby at least one base of a codon encoding a rare amino acid is changed, resulting in a different encoded amino acid.
Comments and references
Request from Uma Devi Paila, UVA. Variants in the sites of rare amino acids e.g. Selenocysteine. These are important impact terms since a loss of such rare amino acids may lead to a loss of function.
Definition references: SO:ke
Synonyms
| Scope | Value |
|---|---|
| exact | Jannovar:rare_amino_acid_variant |
| exact | rare amino acid variant |
| exact | snpEff:RARE_AMINO_ACID |
Identifiers and subsets
Accession: SO:0002008
Persistent URL: http://purl.obolibrary.org/obo/SO_0002008
Alternate IDs: None
Subsets: None
Cross references: http://snpeff.sourceforge.net/SnpEff_manual.html
History summary
Term history is reconstructed from the Git-era ontology files by comparing ontology classes across revisions. Earlier SVN-era changes will be added at a future date.
First seen in Git-era editable history: 2016-12-05 in commit 92e3cae
Most recent Git-era change: 2021-07-12 in commit 795c410
Number of changes: 2
Ontology neighborhood diagram
Relationships
Change history
This timeline summarizes changes identified in SO’s GitHub commit history, including updates to labels, definitions, parent terms, synonyms, subsets, and obsoletion status. It is a best-effort reconstruction and may not include every change to a term. Since only history from GitHub is included at the moment, any term added before the migration from SVN to Git will show as being created in 2016. This will be addressed once SVN history is incorporated.
| Date | Change | Summary | Evidence |
|---|---|---|---|
| 2021-07-12 | edited | Term stanza touched in repository history | 795c410 |
| 2016-12-05 | created | Term introduced into the editable ontology history Initial label: rare_amino_acid_variant Initial definition captured. Initial parent: SO:0001586 | 92e3cae |