Fig. 2
Schematic of the Cav1.1 protein showing pathogenic variants associated with different phenotypes
Shown are the locations of pathogenic or likely pathogenic variants of CACNA1S gene. Cav1.1 is composed of four repeated domains (DI–DIV), each containing six transmembrane segments (S1–S6), with S1–S4 representing the voltage-sensor domains and S5–S6 forming pore domains. Variants associated with HypoPP are indicated by red circles, whereas variants identified in individuals with malignant hyperthermia susceptibility are indicated by orange circles. The green circles denote missense variants identified in patients with congenital myopathy, whereas the green crosses represent truncated variants associated with congenital myopathy. The red pentagram indicates the variant in our patient