Figure 1

Schematic representation of the NBN gene on chromosome 8q21. The upper part shows variants identified in the NBN gene. Light green boxes refer to SNPs with MAF ≥ 5% in the cases set, and variants name are indicated according to the reference sequence NM_002485.4. Corresponding coding variations are indicated relative to the protein structure in the bottom part of the figure. Light blue boxes refer to synonymous variations. FHA: Forkhead-associated domain. BRCT: BRCA1 C-terminal domain. MIR: MRE11 interacting region. AIR: ATM interacting region. Yellow dots: acetylated lysine residues (K208, K233, K334, K441, K504, K544, K665, K690, K698 and K715). Red dots: phosphorylated serine residues (S278 and S343).