Figure 2 Schematic displaying the 3 described CHT mutant proteins alongside wild type molecule (Adapted from reference 2, using Microsoft Powerpoint Software)‏

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Figure 2 Schematic displaying the 3 described CHT mutant proteins alongside wild type molecule (Adapted from reference 2, using Microsoft Powerpoint Software)‏ Schematic displaying the 3 described CHT mutant proteins alongside wild type molecule (Adapted from reference 2, using Microsoft Powerpoint Software) Schematic indicating the transmembrane architecture and C-terminal truncation of both sequence variants identified in the current study alongside the previously published dHMN-VII-associated CHT sequence variant (A: H521Qfs*2; B: K510Nfs*2; C: K499Nfs*13; D: wild type). Dark circles represent amino acids that are conserved across human CHT, mouse Cht1, and the C. elgans CHT ortholog. Potential protein kinase A phosphorylation sites are indicated by light circles containing a letter P, and potential protein kinase C phosphorylation sites are indicated by dark circles containing a letter P. Potential N-glycosylation sites are indicated by gray “tree-like” structures. Claire G. Salter et al. Neurol Genet 2018;4:e222 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology