Table 2: Mutation description.

Mutation descriptionDefinition

SubstitutionA mutation involving the substitution of a single nucleotide
Substitution-nonsenseA substitution mutation resulting in a termination codon, foreshortening the translated peptide
Substitution-missenseA substitution mutation resulting in an alternate codon, altering the amino acid at this position only
Substitution-coding silentA synonymous substitution mutation which encodes the same amino acid as the wild type codon
Substitution-intronicA substitution mutation outside the coding domains; no interpretation is made as to its effect on splice sites or nearby regulatory regions
InsertionAn insertion of novel sequence into the gene
Insertion-in frameAn insertion of nucleotides which does not affect the gene’s translation frame, leaving the downstream peptide sequence intact
Insertion-frameshiftAn insertion of novel sequence which alters the translation frame, changing the downstream peptide sequence (often resulting in premature termination)
DeletionA deletion of a portion of the gene’s sequence
Deletion-in frameA deletion of nucleotides which does not affect the gene’s translation frame, leaving the downstream peptide sequence intact
Deletion-frameshiftA deletion of nucleotides which alters the translation frame, changing the downstream peptide sequence (often resulting in premature termination)
ComplexA compound mutation which may involve multiple insertions, deletions, and substitutions