Figure 1. Genomic MAX mutations in 76 GISTs.
Inactivating MAX mutations were intragenic homozygous deletions (blue lines indicate deleted exons) and hemizygous mononucleotide alterations. Mutations are described according to international guidelines for sequence variant nomenclature by the Human Genome Variation Society (http://varnomen.hgvs.org). Annotations in blue are the nucleotide coding sequence mutations (indicated by ‘c.'), whereas annotations in green are the resultant protein sequence mutations (indicated by ‘p.'). All mutations affect both alternatively spliced forms of MAX, which encode 151 and 160 amino acid MAX isoforms.