Sunday, April 12, 2009

The APC gene and distributions of mutations

The APC gene (adenoma polyposis coli) consists
of 8538 bp in 15 exons encoding a 2843-aminoacid
protein (not 8535 bp and 2844 amino acids
as shown in C). Exon 15 is very large, 6579 base
pairs. Over 95% of mutations result in a nonfunctional
truncated protein due to nonsense
mutations (40%), deletions (41%), insertions
(12%), and splice site mutations (7%).

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