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Table 1 Summary of common polymorphisms and rare variants used for in vitro study

From: Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases

Variant

Chromosomes from resequencing study with minor allele (total = 146)

PolyPhen-2

SIFT

M441T

21

Benign (0)

Tolerated (0.63)

A858V

33

Benign (0.001)

Tolerated (0.35)

F941V

1

Probably damaging (1.00)

Damaging (0)

G1145S

1

Benign (0.319)

Tolerated (0.5)

  1. PolyPhen-2 [30] categorizes mutations as benign, possibly damaging, or probably damaging, based on pairs of false-positive rate (FPR) thresholds. SIFT [31] predicts variants to be deleterious, given an output value <0.05.
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Arthritis Research & Therapy

ISSN: 1478-6362

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