Genetic Variation in an Individual Human Exome (original) (raw)
Figure 5
An example of a homozygous indel located near an exon boundary.
The HuRef assembly has a homozygous insertion of A at chr11: 44881936. This insertion resides inside a coding exon of the gene TP53I11, but is near a 2 bp intron. With this new base inserted, a single amino acid is introduced into the protein sequence, which is the more likely scenario instead of a 2 bp intron.