Table 1

P2RX7 SNPs genotyped in pSS patients and normal subjects

#

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


aThe minor allele 1405G is a tag for haplotype 4 (Figure 1). pSS, primary Sjögren's syndrome; SNP, single nucleotide polymorphism.

Lester et al. Arthritis Research & Therapy 2013 15:R71   doi:10.1186/ar4248

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