Fig. 1
From: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Overview of ACTB-AST mutations. a Schematic representations of ACTB mutations. ACTB-AST mutations are shown in magenta above the gene model and BWCFF-associated mutations from the literature and from our own patients are given below the gene model; Asterisk (*) indicates a specific variant associated with progressive dystonia67. Genomic coordinates refer to the GRCh37/hg19 genome assembly. Exons are numbered and coding exons are indicated by large boxes; b–e Pedigree charts (left) and in silico representations of impacted residues (right) in b Family A (P1 and P2)—ACTB: p.Met313Arg, c Family B (P3 and P4) - ACTB: p.Ala331Val_fs*27, d Family C (P5)—ACTB: p.Ser338_Ile341del and e Family D (P6)—ACTB: p.Ser368Leu_fs*13. For pedigree charts, squares represent males, circles indicate females, magenta-shaded symbols indicate individuals with ACTB-AST and patients are numbered according to the text. For in silico representations, affected amino acid residues are indicated in magenta on the actin protein structure (PDB 5JLH)
