Table 3. Mutations in human plasmalemmal SLC6 neurotransmitter transporters.

Gene	Protein name	Missense coding variants	Transport phenotype	Trafficking to target membrane	Disease phenotype	Mode of inheritance	OMIM#
SLC6A1	GAT1	9/45 variants characterized	Loss-of-function		Myoclonic-atonic epilepsy	AD	616421
		G94E, W235R, F270S, I272*, Y445C, W496*, G550R		?
		G234S, P361T		Reduced
SLC6A2	NET	A457P	Loss-of-function	Reduced	Chronic orthostatic intolerance	AD	604715
SLC6A3	DAT	A559V, E602G, R615C	Unaltered dopamine uptake, anomalous dopamine efllux	Unaltered	Attention deficit hyperactivity disorder (ADHD), bipolar disorder	AD
		R85L, V158F, R219G, R219S, L224P, A314V, G327R, L368Q, G380_K384delinsE, G386R, P395L, R445C, Y470S, R521W, P529L, P554L	Loss-of-function	Reduced	Dopamine transporter defeciency syndrome (Infantile Parkinsonism/dystonia)	AR	613135
		V382A			ADHD	AD
		I312F, D421N		Unaltered	Adult Parkinsonism with ADHD	CHet
		ΔN336, T356M		Unaltered	Autism spectrum disorder	AD
SLC6A4	SERT	G56A, K605N	Gain-of-function	Unaltered	OCD, depression, Autism spectrum disorder, Asperger’s syndrome, Tourette’s syndrome	AD/AR	164230 (I425V)
		I425V, I425L, F465L, L550V		Increased
		N211S, V274I, F474L	?	?
		L90F	?	?	Anorexia nervosa-restrictive type	AD
SLC6A5	GlyT2	G225R, Y297*, R439*, S477P, S477Ffs*9	?	?
		P108Lfs*25, Y377*, V432Ifs*97, Q630*	Loss-of-function	Reduced
		W151*, R191*, L198Rfs*123, L237P, P243T, E248K, S489Ffs*39, S513I, F547S, I655Kfs*1, Y656H, G657A		?	Hyperekplexia	AR	614618
		A89E, A275T, L306V, T425M, W482R, Y491C, N509S, G787R		Unaltered
		P429L S510R, Y705C		Reduced		AD
SLC6A9	GlyT1	K310Ffs*31, S407G, Q573*	?	?	Glycine encephalopathy	AR	617301

AR: Autosomal recessive; AD: Autosomal dominant; CHet: Compound heterozygotes.