My Rare Loss of Function Variants: Part 2 - Insertion-Deletions (Indels)
Insertion-Deletions (Indels) Indel ( in sertion- del etion) is a molecular biology term for an insertion or deletion of bases in the genome of an organism. Indels ≥ 50 bases in length are classified as structural variants . [1] [2] In coding regions of the genome, unless the length of an indel is a multiple of 3, it will produce a frameshift mutation . For example, a common microindel which results in a frameshift causes Bloom syndrome in the Jewish or Japanese population. [3] Indels can be contrasted with a point mutation . An indel inserts or deletes nucleotides from a sequence, while a point mutation is a form of substitution that replaces one of the nucleotides without changing the overall number in the DNA. Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. [4] A TBM is defined as a substitution at adjacent nucleotides (primarily substitutions at two adjacent nucleotides, but substitutio