A novel nonsynonymous variation of NLRP3 was identified in an Italian patient with Behçet syndrome using both bioinformatics and molecular methods. This variation was a thymine to guanine polymorphism responsible for the isoleucine to serine amino acid change at position 348. The novel variation was predicted to be a pathogenic allele.

中文翻译：

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鉴定意大利 Behçet 综合征患者的 de novo NLRP3 基因变异

使用生物信息学和分子方法在一名患有 Behçet 综合征的意大利患者中发现了 NLRP3 的一种新的非同义变异。这种变异是胸腺嘧啶到鸟嘌呤的多态性，负责第 348 位异亮氨酸到丝氨酸的氨基酸变化。预测这种新变异是致病等位基因。