Table 1 Rare, possibly pathogenic variants in the NLRP1 gene are presented, along with their functional impact, frequency in ExAC populations of European descent and theoretical predictions of pathogenicity.

From: Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis

Chr Position Ref Alt Variant class Transcript change (NM_033004.3) Protein change ExAC MAF Background population MAF* Polyphen2 SIFT
17 5445285 T Frameshift c.2591delA Asn864fsX4 0,000% 0,000% / /
17 5424908 C T Missense c.3719G > A Arg1240His 0,003% 0,000% B T
17 5485999 G A Missense c.439C > T Arg147Cys 0,010% 0.004% B T
17 5461960 T C Missense c.2056A > G Met686Val 0,039% 0,000% P D
17 5463093 C T Missense c.923G > A Arg308Gln 0,110% 0,009% B T
17 5445243 G A Missense c.2633C > T Thr878Met 4,429% 7,500% B T
17 5463279 G C Missense c.737C > G Thr246Ser 4,409% 7,200% B T
17 5437285 G A Missense c.2984C > T Thr995Ile 4,772% 7,200% P T
17 5433966 T C Missense c.3355A > G Met1119Val 4,808% 7,600% B T
17 5424906 C G Missense c.3721G > C Val1241Leu 4,875% 7,500% B T
  1. All the listed variants were identified in cases with familial MS, with the frequency in control populations below 5%. *Minor allele frequency (MAF) in the population-matched background population of 1000 population matched exomes.