Table 1

Summary of genetic data of patients with somatic NLRP3 mosaicism

Pt (Country)	Phenotype	Nucleotide exchange*	Amino acid exchange	Massively parallel DNA sequencing		Bioinformatics analyses			Reference	Analysed relatives
Pt (Country)	Phenotype	Nucleotide exchange*	Amino acid exchange	Mutated allele frequency	Coverage	SIFT	PolyPhen-2	Population genetics†	Reference	Kinship	Results
1 (Spain)	MWS	c.908 A>C	p.D303A	31.3%‡	622×‡	Damaging	Probably damaging	Absent	Present Study	n.d.	n.d.
2 (Japan)	MWS	c.1000 A>G	p.I334V	34.9%‡	1060×‡	Damaging	Benign	Absent	12	Father	Negative§
										Mother	Negative§
3 (Japan)	MWS	c.1064 A>C	p.K355T	20.2%‡	100×‡	Tolerated	Probably damaging	Absent	Present Study	n.d.	n.d.
4¶ (Spain)	MWS	c.[1231 C>T; 1233 G>T]	p.L411F	14.4%‡	590×‡	Tolerated	Possibly damaging	Absent	Present Study	Mother	Negative§
4** (Spain)	MWS	c.[1231 C>T; 1233 G>T]	p.L411F	15.6%‡	870×‡	Tolerated	Possibly damaging	Absent	Present Study	Mother	Negative§
5 (Spain)	MWS	c.1569 C>A	p.F523L	8.7%††	569×††	Tolerated	Possibly damaging	Absent	3	Daughter	Negative§
6 (Japan)	MWS	c.1699 G>A	p.E567K	5.6%‡	1211×‡	Tolerated	Benign	Absent	11	n.d.	n.d.
7 (Japan)	MWS	c.1699 G>A	p.E567K	5.5%‡	724×‡	Tolerated	Benign	Absent	11	n.d.	n.d.

*NCBI Reference Sequence NM_001243133.1.
†Data of population genetics obtained from NCBI dbSNP Build 137.
‡Mean of two independent experiments.
§Analyses performed by Sanger sequencing.
¶Blood sample collected in 2002.
**Blood sample collected in 2009.
††Mean of four independent experiments.
MWS, Muckle-Wells syndrome; n.d., not done; Pt, patient; SIFT, Sorting Intolerant from Tolerant.