Table 5. Mutations in human SLC17, SLC18, OCT and PMAT transporters.

Gene	Protein name	Missense coding variants	Transport phenotype	Trafficking to target membrane	Disease phenotype	Mode of inheritance	OMIM#
SLC17A5	Sialin	>30 mutations	Loss-of-function	Reduced, increased, unaltered or altered	Salla disease, intermediate severe Salla disease or Infantile Sialic Acid Storage Disorder	AR/CHet	604369 (SD) 269920 (ISSD)
SLC17A7	VGLUT1	L516M, P551S	?	?	Schizophrenia	?
SLC17A8	VGLUT3	A211V	Loss-of-function	Reduced and altered	Non-syndromic sensorineural deafness	AD	605583
		I78V, M206Nfs*4, A374S	?	?
SLC17A9	VNUT	R9C, R311N	?	?	Disseminated superficial actinic porokeratosis	AD	616063
SLC18A2	VMAT2	P387L, P316A	Loss-of-function	Unaltered protein levels, trafficking studies not undertaken	Brain monoamine vesicular transport disease	AR	618049
		P237H	?	?
SLC18A3	VAChT	G360R	Loss-of-function	Protein undetected	Congential myasthenic syndrome	AR	617239
		V52F, G186A, C372*, D398H	?	?
SLC22A3	OCT3	M370I	Loss-of-function	Unaltered	Obsessive Compulsive Disorder	AD
SLC29A4	PMAT	A138T, D326E	Loss-of-function	Unaltered	Autism spectrum disorder	AD

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