Figure 8.

Sec6 domain in EXOC3L4 contains a cluster of variants primarily carried by AD case individuals. (A) Alignment of the EXOC3L4 and Sec6. The structure for EXOC3L4 is from AlphaFold2 with entry Q17RC7, and the structure for Sec6 is PDB:2FJI. The alignment is performed with PyMOL. (B) The structure for the C-terminal domain of Sec6 is formed by three domains C, D, and E. (C) The genomic coordinate of Sec6, EXOC3L4, the splicing variants from Miller et al. (2018), and variants from case cluster 2 in Figure 7C. The splicing variants are colored blue and labeled with dbSNP Reference SNP number. The variants from case cluster 2 in Figure 7C are colored in red and labeled with the amino acid change.

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