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. Author manuscript; available in PMC: 2021 Oct 1.
Published in final edited form as: DNA Repair (Amst). 2020 Apr 27;94:102860. doi: 10.1016/j.dnarep.2020.102860

Fig. 3.

Fig. 3.

Positions of mutated amino acids in DDB2 that cause XP-E. Shown on the structure of DDB2 (red) are amino acids (yellow) that are altered from point mutations shown in Table 1. All other mutations resulting in frameshifts, stop codons and large deletions are not shown on this structure. Note that patient GM01389 apparently showed a compound mutation in one allele involving a Leu350Pro substitution and deletion of Asn349 in the other allele. Thus, both amino acids are shown in yellow in the DDB2 structure.