Figure 2.

Schematic representation of the premature truncating variants in LTBP1 and corresponding protein in four unrelated consanguineous families

(A) Schematic representation of the location of the four distinct LTBP1 variants identified in the affected families. The genomic position of each variant is indicated on the exon structure of both the short (LTBP1S) and long (LTBP1L) isoforms of LTBP1.

(B) Sequence alignment shows conservation of the mutated residues among different species.

(C) Schematic representation of the LTBP1 domains. LTBP1 consists of fifteen calcium-binding (cb) EGF-like domains, three EGF-like domains, two TGFβ-binding domains, a hybrid motif, and a 4-cysteine domain. The position of the corresponding alterations on the protein level are indicated by an asterisk.