Table 1.

Characterization of the Six Pathogenic APC Variants

FAP no.	APC mutation	Exon/intron	Predicted effect	Influence on normal splice efficiency (BDGP)	RNA processing	Phenotype
1159*	c.531 + 5G>C	Intron 4		0.98 to 0.25	Deletion of exon 4, premature stop codon	Attenuated
1398	c.532 − 8G>A	Intron 4		0.45 to <0.01 new SA site: 0.98	Aberrant transcript, premature stop codon	Classic
1476	c.1409-2_1409 delAGG	Intron 10	Destruction of SA site	Activation of two cryptic SA sites	Two aberrant transcripts, premature stop codon	Attenuated
0005	c.1548G>A	Exon 11	p.Lys516	1.00 to 0.84	Deletion of exon 11, premature stop codon	Classic
1172	c.1742A>G	Exon 13	p.Lys581Arg	0.92 to 0.78	Deletion of exon 13	Attenuated
1199	dup exon 10 to 11	Exon 10 to 11			Duplication of exon 10 to 11, premature stop codon	Classic

SA, splice acceptor site; BDGP, Berkeley Drosophila Genome Project (splice prediction program).

^*Also reported by Moisio et al.36