Table 2

Overview of the NLRP2 and NLRP5 mutations observed in the seven families

Mutation geneFamilyGenomic position on Chr19 (bp)cDNA changeProtein changeMutation typeSIFT*PPH2*1 KG_eas†ExAC_eas†
NLRP2155495027c.1961C>Ap.Ser654*Stop gainTNANANA
255493839c.773T>Cp.Phe258SerMissenseDDNANA
55497571c.2254C>Tp.Arg752*Stop gainTNANANA
355493591c.525G>Cp.Trp175CysMissenseDDNANA
55501876c.2544A>Tp.Glu848AspMissenseDPNANA
455493728c.662C>Tp.Thr221MetMissenseDD0.020.017
55494913c.1847A>Tp.Glu616ValMissenseTPNANA
555493728c.662C>Tp.Thr221MetMissenseDD0.020.017
55494534c.1469C>Tp.Arg490CysMissenseDBNA0
NLRP5656515311c.292C>Tp.Gln98*Stop gainNANANANA
56539680c.2081C>Tp.Thr694IleSissenseDDNANA
756538465c.866G>Ap.Gly289GluMissenseDDNANA
56569626c.3320C>Tp.Thr1107IleMissenseDDNANA
  • *Mutation assessment by SIFT and PolyPhen-2 (PPH2). T, tolerance; D, damaging; and P, probably damaging; B, benign.

  • †Frequency of corresponding mutations in East Asian population of 1000 Genomes (1 KG) and ExAC Browser.

  • B, benign; D, damaging; ExAC, Exome Aggregation Consortium; NLRP2, NLR family pyrin domain containing 2; NLRP5, NLR family pyrin domain containing 5; P, probably damaging; T, tolerance.