Table 2

Concepts in the Mutation Impact Ontology and their descriptions.




Proteins, also known as polypeptides, are organic compounds made of amino acids arranged in a linear chain and folded into a globular form.

Protein Mutant

A protein mutant is a protein where the amino acid sequence is altered compared to the wildtype protein. These alterations are called mutations.

Protein Property

The physical, chemical and biological properties of proteins. Stability and Function to mention a couple.

Elementary Mutation

An elementary change in the amino acid sequence of a protein.

Mutation Series

A set of elementary mutations.

Mutation Specification

An umbrella concept introduced as a link between mutations, their corresponding proteins, the impacts they cause and the texts.

Mutation Impact

A mutation impact describes a directional alteration of a protein.

Laurila et al. BMC Genomics 2010 11(Suppl 4):S24   doi:10.1186/1471-2164-11-S4-S24

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