Rare Variants in the TREX1 Gene and Susceptibility to Autoimmune Diseases

Table 1

TREX1 variants.

Nucleotide variation	Amino acid change	ID, reference	SLE; 𝑁=210	SSc; 𝑁=150	SS; 𝑁=58
c.592G>A	p.Glu198Lys	Ramantani et al. 2010 [9]	0	0	1
c.694A>G	p.Met232Val	Novel	0	1	0
c.144C>G	p.Pro48Pro	Novel	1	0	0
c198G>A*	p.Lys66Lys	rs3135943; Lee-Kirsch et al. 2007 [4]	0	0	1
c.462T>C*	p.Asp154Asp	rs3135944; Lee-Kirsch et al. 2007 [4]	0	0	1
c.531C>T	p.Tyr177Tyr	rs11797; Lee-Kirsch et al. 2007 [4]	110	75	29
c.912G>A	p.Leu304Leu	rs3135945; Lee-Kirsch et al. 2007 [4]	1	0	1

Nucleotide numbering of TREX1 variations reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the GenBank reference sequence NM_022517.17.
Besides c.531C>T, all the other variations were found only in heterozygosity.
∗The two variants were observed in the same SS patient.