NAVIP: Unraveling the influence of neighboring small sequence variants on functional impact prediction
Fig 2
(a) Theoretical concept of two InDels compensating each others’ frameshift. The first insertion changes the reading frame, while the second insertion shifts the reading frame back to the original one. While each individual variant would suggest a loss-of-function due to a frameshift mutation, the combination of both results in ‘only’ two additional amino acids in the gene product. (b) Distribution of distances between compensating InDels (cInDels). As the second InDel can compensate for the frameshift caused by the upstream InDel, distances between such cInDels are short and frequently multiples of three. In total, 484 genes were identified to contain cInDels in the Nd-1 data set.