Figure 1.

Identification and characterization of novel ACTN1 variants. (a) Pedigrees of the affected families Squares denote males, and circles denote females. Black filled, and empty symbols represent thrombocytopenic and nonthrombocytopenic family members, respectively. Dotted‐line symbols were used when platelet count was unavailable. ATCN1 gene constitutional variant status is indicated at the top of symbols representing family members. All identified variants were monoallelic. (b) Structural domains of ACTN1 and localization of ACTN1 variants: (i) previously described with proven functional impact (dark), (ii) previously described but untested for functional impact (gray), (iii) previously described with proven functional impact and reported here (green), and (iv) previously undescribed and reported here (red). The four SRs form the rod domain of the protein. CaM, calmodulin‐like domain; CH, calponin homology domain; SR, spectrin repeat