Table 1

Definitions of Discrepancy Types.

Discrepancies defined on nucleotide and polypeptide levels

Nucleotide changes
Polypeptide changes

Substitution
Silent substitution

Conservative substitution

Non-Conservative substitution

Missense substitution – any amino acid change

Truncation – inframe Stop codon
Frameshift deletion
Frameshift deletion
Frameshift insertion
Frameshift insertion
Inframe deletion
Inframe deletion
Inframe insertion
Inframe insertion
No Stop codon
Post-elongation
No Start codon
No Translation

Discrepancies defined on nucleotide level only

Discrepancies introduced by sequence ambiguity

     Start codon substitution
     Stop codon substitution
     Substitution in CDS region
     Frameshift insertion
     Inframe insertion
Discrepancies introduced by reference sequence ambiguity
     Substitution in CDS region
Flanking sequence region (5' and 3' regions described separately)
     Substitution – replacement of one base by another
     Deletion/insertion – deletion/insertion of several bases
     Ambiguous substitution – replacement of a base by ambiguous base
     Ambiguous insertion – insertion of ambiguous base

Discrepancy types for cDNA and flanking sequences defined at the nucleotide and polypeptide level by the Discrepancy Finder.

Taycher et al. BMC Bioinformatics 2007 8:198   doi:10.1186/1471-2105-8-198