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Germ line mutation spectra of TSC1 and TSC2 . In TSC1, mutations are binned at 40 bp/bin; in TSC2, mutations are binned at 60 bp/bin. A small
horizontal line delimits mutations occurring at nearby positions. Partial introns are drawn when a mutation occurs in the intron. Symbols: filled circles =
nonsense; filled circles with line = splicing point mutations; open circles = missense; filled triangles = in-frame indel; open triangles = frameshift indel;
triangle pointing upward = deletion; triangle pointing downward = insertion. Point mutations occurring at CpG sites are drawn below the gene. Putative
functional domains are shown at the bottom for each gene. A, TSC1 point mutations. B, TSC1 insertions and deletions. C, TSC2 truncating point
mutations. D, TSC2 missense mutations. E, TSC2 insertions and deletions. In addition, approximately 15 percent of mutations are whole exon, multiexon,
Source: Tuberous Sclerosis, The Online Metabolic and Molecular Bases of Inherited Disease
or whole gene deletions, or other large rearrangements at the TSC2 locus (not shown). (Courtesy of Dr. M.P. Reeve.)
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular
Bases of Inherited Disease; 2014 Available at: http://mhmedical.com/ Accessed: August 03, 2017
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