rs1799807

rs1799807 is a missense variant in BCHE causing the Asp70Gly substitution, historically known as the 'atypical' butyrylcholinesterase allele. The change sits in the enzyme's anionic substrate/inhibitor-binding site and reduces butyrylcholinesterase activity by roughly 30%, lowering its capacity to hydrolyze choline-ester drugs. Carriers — particularly those homozygous or compound heterozygous with other BCHE variants such as rs1803274 — are at risk of prolonged neuromuscular blockade and delayed recovery after standard doses of the anesthesia muscle relaxants succinylcholine or mivacurium.