Fig 1.

Autosomal dominant mutations in SEC61A1 cause SCN. A, Pedigree of a family with segregation of the p.Q92R mutant allele. The index patient is denoted by a black symbol. B, May-Grünwald Giemsa staining of representative bone marrow smears from the index patient. Promyelocytes are marked by the symbol %, and myelocytes are marked by the symbol ∗. Magnification, ×500. C, Sequencing profiles demonstrating the heterozygous SEC61A1 c.A275G:p.Gln92Arg mutation in the kindred. D, Table of all reported mutations in SEC61A1 with associated phenotypes. E, Multiple alignment to display conservation exported by using HomoloGene (National Center for Biotechnology Information). F-H, Illustration of mutated residues in green obtained using available cryo-EM structure (Protein Data Bank identifier 2wwb), with lumenal view in (F) and cytosolic view in (H). The plug domain is visible in red, the Sec61β protein is visible in blue, and the Sec61γ subunit is visible in orange.