The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
McMahon O, Hallam TM, Patel S, Harris CL, Menny A, Zelek WM, Widjajahakim R, Java A, Cox TE, Tzoumas N, et al. Hum Mol Genet. 2021 Jun 17; 30(13):1188-1199.