Fig. 3: CGN arginine codon usage and variation across actin gene family.
From: Biases in arginine codon usage correlate with genetic disease risk
CGN codons are shown in red font or shading, AGR codons in blue. (a) Eighteen conserved actin residues in the ACTG2 gene are shown at top with numbering corresponding to the ACTG2 protein. Each numbered arginine is then linked to a table of the actin paralogs. Solid black circle-dot symbols indicate the presence of a missense change in the gnomAD database, a proxy for benign alleles. (b) ClinVar variants corresponding to the same arginine positions in (a) are shown for all homologs. Empty circle-dot symbols indicate variants of uncertain significance (VUS), while solid dots indicate pathogenic or likely pathogenic missense changes. Arginines 8, 9, 12, 13, and 14 are notable for being encoded by CGN codons in all paralogs and having pathogenic alleles across multiple human disease phenotypes.
