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Table 1 P2RX7 SNPs genotyped in pSS patients and normal subjects

From: Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjögren's syndrome

# ID SNP Exon Protein Functional effect of minor allele [30, 31, 40]
1 rs35933842 G151T 1 Intron 1 splice site Loss
2 rs17525809 T253C 2 V76A Partial loss
3 rs28360447 G474A 5 G150R Loss
4 rs208294 C489T 5 H155Y Gain
5 rs7958311 G835A 8 R270H Partial loss
6 rs7958316 G853A 8 R276H Loss
7 rs28360457 G946A 9 R307Q Loss
8 rs1718119 G1068A 11 A348T Gain
9 rs2230911 C1096G 11 T357S Partial loss
10 rs2230912 A1405G 13 Q460R Gaina
11 rs3751143 A1513C 13 E496A Loss
12 rs1653624 T1729A 13 I568N Loss
  1. aThe minor allele 1405G is a tag for haplotype 4 (Figure 1). pSS, primary Sjögren's syndrome; SNP, single nucleotide polymorphism.