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. Author manuscript; available in PMC: 2018 Dec 1.
Published in final edited form as: Hum Mutat. 2017 Sep 14;38(12):1684–1699. doi: 10.1002/humu.23315

Figure 2. Schematic of the OCTN2 carnitine transporter with location of the 92 variants expressed in CHO cells.

Figure 2

The OCTN2 carnitine transporter is composed of 557 amino acids. Hydropathy analysis and conservation with other organic cation transporters indicates that the transporter forms 12 transmembrane spanning domains (rectangles) with both the N- and C-termini facing the cytoplasm. Glycosylation sites are indicated by branching (Filippo, et al., 2011). The 92 OCTN2 variants identified and expressed in CHO cells are indicated by circles. Mutations reducing carnitine transport to 20% or less than wild-type when expressed in CHO cells are indicated by full circles; variants retaining more that 20% residual activity are indicated by empty circles. The A142S and R488H mutations (indicated by black stripes circles) impair carnitine transport when in cis on the same allele, but not alone (Amat di San Filippo, et al., 2006).