Figure 1.
Schematic representation of integrin αIIbβ3 major domains in relation to 70 pilot variants with their final PD-EP classification. Integrin αIIbβ3 subunits αIIb (top) and β3 (bottom) each possess a signal peptide (SP), an extracellular domain involved in ligand binding (β propeller and βI, respectively), a transmembrane (TM) domain, and a cytoplasmic domain (C). Clinically actionable variants (PATH, LPATH) are shown above the protein schematics; VUS, LBEN, and BEN variants are shown below.

Schematic representation of integrin αIIbβ3 major domains in relation to 70 pilot variants with their final PD-EP classification. Integrin αIIbβ3 subunits αIIb (top) and β3 (bottom) each possess a signal peptide (SP), an extracellular domain involved in ligand binding (β propeller and βI, respectively), a transmembrane (TM) domain, and a cytoplasmic domain (C). Clinically actionable variants (PATH, LPATH) are shown above the protein schematics; VUS, LBEN, and BEN variants are shown below.

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