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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 4. Mutations in other human plasmalemmal SLC6 transporters.

Gene Protein name Missense coding variants Transport phenotype Trafficking to target membrane Disease phenotype Mode of inheritance OMIM#
SLC6A6 TauT A78E, G399V Loss-of-function Unaltered Childhood retinal degeneration with or without cardiomyopathy AR
SLC6A8 CRT1 >80 point mutations reported Loss-of-function Reduced in many Cerebral creatine deficiency syndrome 1 XLR 300352
SLC6A17 NTT4 G162R, P633R ? Unaltered for G162R, altered for P633R Intellectual disability AR 616269
SLC6A18 B0AT3 G79S, Y319X, P478L, G496R ? Reduced (for G79S,Y319X, G496R), unaltered (for P478L) Digenic iminoglycinuria (DIG)/hyperglycinuria (HG) when SLC36A2 mutations are co-inherited AD, AR, DR, CHet 242600 (DIG) 138500 (HG)
SLC6A19 B0AT1 >20 mutations ? ? Hartnup Disorder AR 234500
IVS7–4G → A ? ? Iminoglycinuria (IG)/hyperglycinuria (HG) when SLC36A2 mutations are co-inherited AD, AR, DR 242600 (DIG) 138500 (HG)
SLC6A20 XTRP3 T199M Reduced Unaltered Iminoglycinuria (IG)/hyperglycinuria (HG) when SLC36A2 mutations are co-inherited AD, AR, DR 242600 (DIG) 138500 (HG)

AR: Autosomal recessive; AD: Autosomal dominant; CHet: Compound heterozygotes; XLR: X-linked recessive; DR: Digenic recessive.