Article Figures & Data
Figures
- Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations
(A–B) Pedigrees of families A and B showing affected (black), unaffected (white), and possibly affected (grey) individuals. Those clinically investigated are indicated by * and those who had genetic testing are indicated by the test result, where (+/−) represents individuals heterozygous for the SLC5A7 mutation and (−/−) represents individuals homozygous for wild type. (C) Hands of individual B:III:1 showing pronounced atrophy of the intrinsic hand muscles. (D) Species amino acid sequence alignment of the CHT C-terminal region, depicting the outcomes of the K499Nfs13, H521Qfs2, and K510Nfs2 alterations (arrows indicate the position of polypeptide truncation, and additional aberrant amino acids are highlighted in yellow). The primary endocytic motif (SEENMDKTILV-1° Motif) is highlighted in blue (Ser522 to Val532), and the secondary endocytic motif (DELAL-2° Motif) is highlighted in green (Asp540 and Leu544).
- Figure 2 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.
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