Predicting the effects of frameshifting indels

Genome Biol. 2012 Feb 9;13(2):R9. doi: 10.1186/gb-2012-13-2-r9.

Abstract

Each human has approximately 50 to 280 frameshifting indels, yet their implications are unknown. We created SIFT Indel, a prediction method for frameshifting indels that has 84% accuracy. The percentage of human frameshifting indels predicted to be gene-damaging is negatively correlated with allele frequency. We also show that although the first frameshifting indel in a gene causes loss of function, there is a tendency for the second frameshifting indel to compensate and restore protein function. SIFT Indel is available at http://sift-dna.org/www/SIFT_indels2.html.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • African Continental Ancestry Group / genetics
  • Algorithms
  • Animals
  • Asian Continental Ancestry Group / genetics
  • Computational Biology*
  • European Continental Ancestry Group / genetics
  • Frameshift Mutation / genetics*
  • Gene Frequency
  • Genome, Human
  • Humans
  • INDEL Mutation / genetics*
  • Proteins / genetics*
  • Software*

Substances

  • Proteins