Figure 2.

Transcription activation assay for BRCA1 missense VUS at the N- and C-terminal borders of the BRCT domains. A, transcription activity of missense variants located at the transition between the disordered region and the BRCT domain. B, transcription activity of missense variants located at the C-terminal border of the BRCT domain. Western blots indicate steady state levels of expression of the fusion proteins containing C-terminal deletions. Regions of interest are indicated in the crystal structure diagram (Protein Data Bank 1Y98_A) by a dashed circle. Variants with significantly reduced activity (<80% WT) are denoted in red font.