Loeys et al. 355 (8): 788, Figure 1 August 24, 2006

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Figure 1. Mutations in TGFBR2 (Panel A) and TGFBR1 (Panel B) in the Loeys–Dietz Syndrome.

Amino acid mutations previously reported by our group³ are indicated in red type. The different exons are numbered; intervening sequences (IVSs) are shown as black lines. The colored boxes represent the exons corresponding to the extracellular domain of the receptor (yellow), the transmembrane domain (blue), the serine–threonine kinase domain (red), intracellular domains without a specified function (gray), and the glycine–serine-rich domain (green). Mutations in Loeys–Dietz syndrome type I are shown below each gene, and mutations in Loeys–Dietz syndrome type II are shown above each gene. TGFBR2 mutations were found in 8 patients with type II and 27 with type I, and TGFBR1 mutations were found in 4 patients with type II and 13 with type I.