Figure 1. Pedigree of family 1229.
TTC3 p.S1038C (rs377155188) is the only rare, nonsynonymous variant detected by whole-exome sequencing (WES) shared by all 11 LOAD individuals. The age beneath each individual is either the age at onset for individuals with LOAD or the age at examination for unaffected family members. The genotypes are the wild type (C/C) or the alteration (C/G) that causes the TTC3 missense alteration.