Importantly, all actin mutants studied here are associated with human diseases; p.R183W was identified in β-actin from patients with deafness, juvenile-onset dystonia or development malfunctions40,41, whereas p.R183G and p.N111S have been found in α-actin of patients with nemaline myopathy42,43, highlighting the relevance of these actin variants. The gene discussed is ACTB; the disease is Developmental malformations - deafness - dystonia.