rare_amino_acid_variant [SO_0002008]

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.
Tags:

rare_amino_acid_variant

ID: SO_0002008

Class

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.

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.

Open in VFB 3D Browser →

Classification

Alternative Names

Synonym Scope Reference
snpEff:RARE_AMINO_ACID exact synonym VAR
rare amino acid variant exact synonym
Jannovar:rare_amino_acid_variant exact synonym //doc-openbio.readthedocs.org/projects/jannovar/en/master/var_effects.html

References