Figure 3.
Transcription activation assays for BRCA1 missense VUS at the BRCT linker region. A, structure of BRCA1 tandem BRCT domains (PDB 1JNX). The linker region is shown as a magenta structure perpendicular to the plane of the page (red box). The linker is rotated (90°) and enlarged to show amino acid residue positions tested. B and C, transcription activity of missense variants located at the linker region between BRCT domains. D, transcription activity of missense variants located at the disordered region, and intervening segments and α-helices of BRCT domains. Variants with significantly reduced activity (< 80% WT) are denoted in red font.
