Rare Variants in the TREX1 Gene and Susceptibility to Autoimmune Diseases

Figure 1

Scheme of disease-associated TREX1 mutations so far reported in literature. The two missense mutations found in the present study are in squares. Normal type, black: AGS; italic, green: RVCL; underlined, italic, green: CADASIL; underlined black: FCL; boldface, red: SLE; boldface, pink: SSc; boldface, blue: SS. Exo 1, 2, 3 domains; PII: polyproline II domain; TMH: transmembrane domain.