CALM1 (Calmodulin-1) variants and mutations

CALM1 (also known as Calmodulin-1) is a human protein-coding gene encoding a calmodulin-1 protein. It translates intracellular calcium signals into changes in the activity of ion channels, kinases, phosphatases, and many other targets. De novo missense variants can cause severe calmodulinopathy, particularly long-QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. This analysis covers 245 CALM1 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes long QT syndrome 15, Romano-Ward syndrome, and familial long QT syndrome. Example CALM1 variants include M1?, D3E, and D3H.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CALM1 variants

Examples include M1?, D3E, D3H, D3N, L5M, T6I, T6S, E8*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.