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. Author manuscript; available in PMC: 2021 Feb 22.
Published in final edited form as: Clin Genet. 2020 Aug 26;99(1):111–118. doi: 10.1111/cge.13829

FIGURE 1.

FIGURE 1

Gene structure for DNAJC5 encoding for cysteine string protein-α (CSPα): the typical J-domain interacts with heat shock cognate/protein-70 (Hsc70/Hsp70) via its evolutionarily conserved HPD motif (residues 43–45). The cysteine string is comprised of 13 cysteines (in red) over a stretch of 18 amino acids. The three separate ADNCL-causing mutations, which have been identified thus far occur within or immediately adjacent to the normally palmitoylated cysteine string domain: L115R, L116Δ and duplication of C124-C133 (resulting in sequence C124LCCCFNCCCCLCCCFNCCCGK145)