Extended Data Fig. 1: Functional effects of SNVs on the BRCA2 protein.
From: Functional evaluation and clinical classification of BRCA2 variants
A, Heatmap of functional categories (colour) for all possible amino acid substitutions encoded by SNVs. B, Cross-species sequence conservation from pufferfish to Homo sapiens (n = 10) relative to frequency of P_Strong missense variants (perfectly conserved: 100% identity across 10 species; highly conserved: 80% or 90% identity; poorly conserved: ≤70% identity). C–G, BRCA2 3-dimensional protein ribbon diagrams showing the frequency of P_Strong missense variants encoded by SNVs at each amino acid in the Helical (C), OB1 (D), OB2 (E), OB3 (F) domains, and the BRCA2-DSS1-ssDNA complex (PBD 1MJE) (G). Colour denotes the frequency of P_Strong missense alterations (green: 0%; yellow: <25%; orange: 25-49.9%; red: ≥50%). The subdomains were oriented to maximize views of the functionally pathogenic missense alterations. The BRCA2-DSS1-ssDNA complex is shown from N-terminus (left) to C-terminus (right).
