title: Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter.
abstract: Two forms of glycine transporter have been described to date, GlyT-1 and GlyT-2. The GlyT-2 form is expressed mainly in the spinal cord, brainstem and cerebellum. Here we describe the identification of a variant form of the human GlyT-2 (SC6), showing three amino acid changes to the previously reported protein. Population analysis identified the allele causing one of the polymorphisms, D463N, at 10% within the population with 3% being homozygous for the change. We also transfected our new variant into mammalian cells and compared it to the published cDNA, showing that the three amino acid changes present have no major effect on the biochemical properties of the transporter.
authors.affiliation: Molecular Biology Department, SmithKline Beecham Pharmaceuticals, Harlow, UK.
authors.forename: J
authors.initials: J
authors.lastname: Evans
authors.forename: H
authors.initials: H
authors.lastname: Herdon
authors.forename: W
authors.initials: W
authors.lastname: Cairns
authors.forename: E
authors.initials: E
authors.lastname: O'Brien
authors.forename: C
authors.initials: C
authors.lastname: Chapman
authors.forename: J
authors.initials: J
authors.lastname: Terrett
authors.forename: I
authors.initials: I
authors.lastname: Gloger
mesh_terms: D000595:Amino Acid Sequence; D026921:Amino Acid Transport Systems, Neutral; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000737:chemistry; D005787:Gene Frequency; D005838:Genotype; D005998:Glycine / Q000378:metabolism*; D050487:Glycine Plasma Membrane Transport Proteins; D006801:Humans; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D011110:Polymorphism, Genetic; D016415:Sequence Alignment; D013116:Spinal Cord / Q000378:metabolism; D014162:Transfection
chemical_list: D026921:Amino Acid Transport Systems, Neutral; D002352:Carrier Proteins; D018076:DNA, Complementary; D050487:Glycine Plasma Membrane Transport Proteins; C493271:SLC6A5 protein, human; C493268:SLC6A9 protein, human; D005998:Glycine