. Author manuscript; available in PMC: 2014 Apr 1.

Published in final edited form as: Nat Cell Biol. 2013 Aug 18;15(10):1186–1196. doi: 10.1038/ncb2822

Table 1.

Disease causing mutations of TSC2 PEX5 binding sequence (PxBS) disrupts TSC2’s peroxisome localization

Exon/Intron	Mutation	# Reported	Comments
Exon 40	5227 c>g, 1743 R>G	1	Probably pathogenic
Exon 40	5227 c>t, 1743 R>W	28	Pathogenic
Exon 40	5228 g>a, 1743 R>Q	18	Pathogenic
Exon 40	5228 g>c, 1743 R>P	1	Pathogenic
Exon 40	5228 g>t, 1743 R>L	1	Probably pathogenic