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. 2020 Nov 26;11(12):1410. doi: 10.3390/genes11121410

Figure 4.

Figure 4

Mutations in TGFBR1 in individuals with MSSE (modified from Reference [9] Domain structure of the TGFβRI protein showing reported MSSE mutations [6,9,12,13,14,15,16] and unpublished data). The MSSE mutations are shown above the protein while the locations of missense mutations reported in Loeys Dietz syndrome [17,18,19,20,21,22,23,24,25,26,27,28,29] are indicated by asterisks below. The location of the c.1459C > T, p.(Arg487Trp) and c.664G > A, p.(Gly222Arg) variants found in patients with both MSSE and Loeys Dietz phenotypes are also shown. Functional domains are color-coded: extracellular ligand-binding domain (yellow), transmembrane domain (green), glycine-serine-rich domain (red), cytoplasmic kinase domain (blue). SP, signal peptide; TM, transmembrane domain.