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. Author manuscript; available in PMC: 2022 Feb 22.
Published in final edited form as: Pharmacol Ther. 2020 Dec 10;222:107785. doi: 10.1016/j.pharmthera.2020.107785

Table 1. Mutations in human plasmalemmal SLC1 transporters.

Gene Protein name Missense coding variants Transport phenotype Traf ficking to target membrane Disease phenotype Mode of inheritance OMIM#
SLC1A1 EAAT3 E48*, R445W, I395del Loss-of-function Reduced Dicarboxylic aminoaciduria, autism AR 222730
T164A ? ? Obsessive compulsive disorder (OCD) and bipolar disorder AD
R280C ? ? Schizotypal personality disorder SM 615232
SLC1A2 EAAT2 N206S Loss-of-function Reduced Sporadic amyotrophic lateral sclerosis AD
L85P Loss-of-function Reduced Epileptic encephalopathy AD/CHet 617105
G82R, P289R, L474* ? ?  
A79G ? ? Hereditary spastic paraplegia AD
G6S, R31Q ? ? Bipolar disorder and schizophrenia AD
SLC1A3 EAAT1 P290R Loss-of-function Reduced Episodic ataxia AD 612656
C186S Minimally reduced Altered  
M128R, T318A, A329T1, V393I, R454Q, K520R ? ?  
T387P Loss-of-function Reduced Hemiplegia migraines with aura AD
A329T2 ? ? Benign essential blepharospasm AD
E219D Gain-of-function Increased Tourette syndrome AD
SLC1A4 ASCT1 E256K, R457W Loss-of-function Unaltered Spastic tetraplegia, thin corpus callosum, and progressive AR 616657
Y191*, L315Hfs*42, G381R,W453* ? ? microcephaly; SPATCCM  

AR: Autosomal recessive; AD: Autosomal dominant; CHet: Compound heterozygotes; SM: somatic mosaicism.