Mutational Signatures (v3.1 - June 2020)

Single Base Substitution (SBS) Signatures

Single base substitutions (SBS), also known as single nucleotide variants, are defined as a replacement of a certain nucleotide base. Considering the pyrimidines of the Watson-Crick base pairs, there are only six different possible substitutions: C>A, C>G, C>T, T>A, T>C, and T>G. These SBS classes can be further expanded considering the nucleotide context.

Current SBS signatures have been identified using 96 different contexts, considering not only the mutated base, but also the bases immediately 5’ and 3’.

Click on any signature below to learn more about its details.

Possible sequencing artefacts