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Table 1 Rare serotonin transporter coding variants identified in autism and autism spectrum (Jeremy)

From: Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse

SERT variant Location Effect on Function
Gly56Ala [49] N-terminal intracellular tail ~30% increase in 5-HT uptake; absent upregulation by PKG, p38-MAPK [72, 79]
Ile425Leu [49] Transmembrane domain ~70% increase in 5-HT uptake; increased cell surface expression [79]
Ile425Val [77] Transmembrane domain ~70% increase in 5-HT uptake; increased cell surface expression vs. altered PKG regulation [79, 94]
Phe465Leu [49] Transmembrane domain ~70% increase in 5-HT uptake; increased cell surface expression [79]
Leu550Val [49] Transmembrane domain ~70% increase in 5-HT uptake; increased cell surface expression [79]
Lys605Asn [49] C-terminal intracellular tail ~30% increase in 5-HT uptake [72]