PLN (Phospholamban) variants and mutations

PLN (also known as Phospholamban) is a human protein-coding gene encoding a phospholamban protein. It tonically restrains SERCA2a-mediated calcium reuptake into the cardiac sarcoplasmic reticulum, with phosphorylation relieving this inhibition during adrenergic stimulation. Pathogenic variants can destabilize calcium cycling and cause dilated or arrhythmogenic cardiomyopathy. This analysis covers 137 PLN variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy, familial isolated dilated cardiomyopathy, and cardiomyopathy. Example PLN variants include M1T, E2D, and E2Q.

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 PLN variants

Examples include M1T, E2D, E2Q, E2K, V4I, V4V, Q5R, Q5P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.