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A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

Figure 5

SEL1L protein structure and partial sequence alignment.

(A) A Schematic representation of the SEL1L protein, which shows the multi-modular protein structure. The p.Ser658Pro mutation hits one of the C-terminal Sel1-repeats. (B) SEL1L amino acid sequence alignment. Position of the mutation is conserved in all aligned species except for C. elegans and yeast. The Hrd3-motif, which is positioned five residues downstream from the Ser658, shows conservation across all aligned species.

Figure 5