Mutation identification is one of the most important types of genomic research analyses. The genomic position of the identified mutations is a critical factor to assess the importance and functionality of the mutations. Recently, we improved our mutation annotation categorization to help users better research mutation.
Now, we added a third category, Consequence, beyond the original Type and Location of gene information:
The new category helps to clarify the effects of the mutation, including the following categories:
- SYNONYMOUS: change of a single nucleotide in CDS but not causing amino acid change
- NON_SYNONYMOUS: change of a single nucleotide in CDS and causing amino acid change
- FRAME_SHIFT: Frameshift (total of NT changes are not 3N) in CDS caused by insertion, deletion or indel
- STOP_GAIN: mutation creating a stop codon
- STOP_LOSS: mutation destroying a stop codon
- NO_CONSEQUENCE: any consequence not described above, such as SUBSTITUTION in the intergeneic regions. It is only a technical (not a biological) definition.