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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 2. Mutations in human plasmalemmal choline transporters.

Gene Protein name Missense coding variants Transport phenotype Trafficking to target membrane Disease phenotype Mode of inheritance OMIM#
SLC5A7 CHT1 K499Nfs*13 Loss-of-function Reduced Distal hereditary motor neuronopathy AD 158580
P509Lfs*3, K510Nfs*2, H521Qfs*2 ? ?  
D48G, G65E, P105S, R361Q, R446G, S263F Loss-of-function No change Congenital myasthenic syndrome AR/CHet 617143
S94R, V112E, P210L, Loss-of-function Altered  
I42*, Y111H, Y175C, I291T, P310L, V344L, F418V, S487P ? ?  
SLC44A1 CTL1 D517Mfs*19 K90Mfs*18, S126Mfs*8 Loss-of-function Unaltered Reduced Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) AR 618868
SLC44A4 CTL4 D47V ? ? Age-related macular degeneration and blindness ?
M156V Loss-of-function ? Postlingual non-syndromic mid-frequency sensorineural hearing loss AD 617606

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