Figure 1.

Schematic representation of the heavy chain A of nonmuscle myosin class IIA (NMMHC‐IIA) and variants position. (a) Schematic representation of NMMHC‐IIA protein. Nonmuscle myosin II A shows a hexameric structure consisting of two heavy chains, namely NMMHC‐IIA, and two pairs of light chains. Each heavy chain includes a N‐terminal globular head domain (HD), a neck region which binds the light chains, and a C‐terminal α‐helical coiled‐coil tail domain (TD), which ends with a nonhelical tail domain (NHTD) involved in the subcellular localization of the protein. The HD includes four subdomains: the N‐terminal SRC‐Homology 3 like motif (SH3), the upper and lower 50 kDa subdomains, that together form the motor domain (MD), and the converter subdomain. In green the globular HD, in violet the neck domain and in blue the coiled coil TD with the NHTD at the 3′‐UTR in orange. (b) Affected exons and variants identified. The most affected exons are highlighted with red stars. The novel variants are shown in bold and the number in brackets is the patient ID number. Colors reflect protein domains. All variants described were confirmed by Sanger sequencing. The * indicates the two mutations identified in the same patient (39). #*,^,°,^// represent members of the same family. 3′‐UTR, 3′‐untranslated region