Figure 2.

Germline SEC23B Mutation Spectra in CS and Apparently Sporadic CS-Related Cancers from TCGA

A schematic of SEC23B and its functional domains is shown; Arabic numerals correspond to amino acid number. The amino acid positions corresponding to germline heterozygous variants are indicated for variants identified in CS-affected family 616 (blue), an unrelated CS proband (gray), TCGA apparently sporadic thyroid cancer (black), breast cancer (pink), endometrial cancer (purple), and a shared variant observed in all three cancer types and in CS (green). Abbreviations are as follows: ZNF, zinc finger domain; BS, beta-sandwich.