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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]