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. Author manuscript; available in PMC: 2013 Apr 4.
Published in final edited form as: Nat Genet. 2012 Jul 8;44(8):922–927. doi: 10.1038/ng.2349

Figure 2. Mutational Analysis of TGFB2 in aneurysm patients.

Figure 2

(A.) Schematic representation of the microdeletions on chromosome 1q41. The TGFB2 gene is indicated in red. Pedigrees for two patients with de novo chromosomal microdeleletions completely overlapping TGFB2 (1-II:1 and 2-II:1) are shown. (+) Indicates presence of the described mutation in an associated individual while (−) indicates lack of mutation. (B-C.) TGFB2 mutations and pedigrees for families 3–8. Pedigrees document an autosomal dominant pattern of inheritance. Mutations are annotated at the nucleotide (c.) and protein level (p.; three letter code for amino acids is used; reference transcript: Ensembl ENST00000366929 or NCBI NM_001135599.2). Circle, female; square, male; open symbol, unaffected; shaded symbol, affected; diagonal line, deceased. The location of mutations in relation to the exons (numbers) of TGFB2 and the domain organization is shown (LAP; latency associated peptide; RKKRA potential furin cleavage site). Evolutionary conservation of the mutated residues in TGFB2 and related human cytokines (TGFB1/3) is shown.