Fig. 1.

Presently reported RAD21 variants. a RAD21 (horizontal bar) has three binding domains: SMC3 (p.1–103), STAG1/2 (p.362–403) and SMC1A (p.558–628). Sizes of the binding domains are not shown to scale. Truncating RAD21 variants are shown above, and missense mutations and in-frame deletions are shown below the protein representation. Variants for which protein modelling is available, are marked in bold. F family number. The horizontal black line represents the inframe deletion p.(Asp541_Gln568del). ClinVar variants which are reported in the ClinVar database and could be investigated for pathogeneity with protein modelling (see supplementary Table S6). b Genomic region showing the microdeletions including RAD21