Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

NLRP3

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.8610C>T CDS: c.1322C>T AnimoAcid: p.Ala441Val	Substitutions	Direct sequencing	Hoffman HM et al., 2001
2	Substitutions	Genomic: g.7886G>A CDS: c.598G>A AnimoAcid: p.Val200Met	Substitutions	Direct sequencing	Hoffman HM et al., 2001
3	Substitutions	Genomic: g.9174A>G CDS: c.1886A>G AnimoAcid: p.Glu629Gly	Substitutions	Direct sequencing	Hoffman HM et al., 2001
4	Substitutions	Genomic: g.8349C>T CDS: c.1061C>T AnimoAcid: p.Ala354Val	Substitutions	Direct sequencing	Hoffman HM et al., 2001
5	Substitutions	Genomic: g.8072C>T CDS: c.784C>T AnimoAcid: p.Arg262Trp	Substitutions	Direct sequencing	Dode C et al., 2002
6	Substitutions	Genomic: g.8337C>T CDS: c.1049C>T AnimoAcid: p.Thr350Met	Substitutions	Direct sequencing	Dode C et al., 2002
7	Substitutions	Genomic: g.8201G>A CDS: c.913G>A AnimoAcid: p.Asp305Asn	Substitutions	Direct sequencing	Dode C et al., 2002
8	Substitutions	Genomic: g.8999G>C CDS: c.1711G>C AnimoAcid: p.Gly571Arg	Substitutions	Direct sequencing	Dode C et al., 2002
9	Substitutions	Genomic: g.8609G>A CDS: c.1321G>A AnimoAcid: p.Ala441Thr	Substitutions	Direct sequencing	Dode C et al., 2002
10	Substitutions	Genomic: g.7886G>A CDS: c.598G>A AnimoAcid: p.Val200Met	Substitutions	Direct sequencing	Dode C et al., 2002
11	Substitutions	Genomic: g.8079T>G CDS: c.791T>G AnimoAcid: p.Val264Gly	Substitutions	Direct sequencing	Maksimovic L et al., 2008
12	Substitutions	Genomic: g.9012T>C CDS: c.1724T>C AnimoAcid: p.Phe575Ser	Substitutions	Direct sequencing	Feldmann J et al., 2002
13	Substitutions	Genomic: g.8210C>A CDS: c.922C>A AnimoAcid: p.Gln308Leu	Substitutions	Direct sequencing	Feldmann J et al., 2002
14	Substitutions	Genomic: g.8601C>A CDS: c.1313C>A AnimoAcid: p.Thr438Asn	Substitutions	Direct sequencing	Feldmann J et al., 2002
15	Substitutions	Genomic: g.8367A>G CDS: c.1079A>G AnimoAcid: p.His360Arg	Substitutions	Direct sequencing	Feldmann J et al., 2002
16	Substitutions	Genomic: g.9279T>C CDS: c.1991T>C AnimoAcid: p.Met664Thr	Substitutions	Direct sequencing	Feldmann J et al., 2002
17	Substitutions	Genomic: g.8201G>A CDS: c.913G>A AnimoAcid: p.Asp305Asn	Substitutions	Direct sequencing	Feldmann J et al., 2002
18	Substitutions	Genomic: g.8220T>C CDS: c.932T>C AnimoAcid: p.Phe311Ser	Substitutions	Direct sequencing	Feldmann J et al., 2002
19	Substitutions	Genomic: g.8072C>T CDS: c.784C>T AnimoAcid: p.Arg262Trp	Substitutions	Direct sequencing, Restriction enzyme analysis	Aganna E et al., 2002
20	Substitutions	Genomic: g.8208T>C CDS: c.920T>C AnimoAcid: p.Leu307Pro	Substitutions	Direct sequencing, Restriction enzyme analysis	Aganna E et al., 2002
21	Substitutions	Genomic: g.7886G>A CDS: c.598G>A AnimoAcid: p.Val200Met	Substitutions	Direct sequencing, Restriction enzyme analysis	Aganna E et al., 2002
22	Substitutions	Genomic: g.8085T>A CDS: c.797T>A AnimoAcid: p.Leu266His	Substitutions	Direct sequencing	Aksentijevich I et al., 2002
23	Substitutions	Genomic: g.8201G>A CDS: c.913G>A AnimoAcid: p.Asp305Asn	Substitutions	Direct sequencing	Aksentijevich I et al., 2002
24	Substitutions	Genomic: g.8415C>A CDS: c.1127C>A AnimoAcid: p.Ala376Asn	Substitutions	Direct sequencing	Aksentijevich I et al., 2002
25	Substitutions	Genomic: g.9003A>G CDS: c.1715A>G AnimoAcid: p.Tyr572Cys	Substitutions	Direct sequencing	Aksentijevich I et al., 2002
26	Substitutions	Genomic: g.8863C>A CDS: c.1575C>A AnimoAcid: p.Phe525Leu	Substitutions	Direct sequencing	Aksentijevich I et al., 2002
27	Substitutions	Genomic: g.8863C>G CDS: c.1575C>G AnimoAcid: p.Phe525Leu	Substitutions	Direct sequencing	Aksentijevich I et al., 2002
28	Substitutions	Genomic: g.8073G>T CDS: c.785G>T AnimoAcid: p.Arg262Leu	Substitutions	Direct sequencing	Neven B et al., 2004
29	Substitutions	Genomic: g.8337C>T CDS: c.1049C>T AnimoAcid: p.Thr350Met	Substitutions	Direct sequencing	Neven B et al., 2004
30	Substitutions	Genomic: g.9190G>T CDS: c.1902G>T AnimoAcid: p.Leu634Phe	Substitutions	Direct sequencing	Neven B et al., 2004
31	Substitutions	Genomic: g.8356G>T CDS: c.1068G>T AnimoAcid: p.Glu356Asp	Substitutions	Direct sequencing	Neven B et al., 2004
32	Substitutions	Genomic: g.8073G>C CDS: c.785G>C AnimoAcid: p.Arg262Pro	Substitutions	Direct sequencing	Neven B et al., 2004
33	Substitutions	Genomic: g.8201G>A CDS: c.913G>A AnimoAcid: p.Asp305Asn	Substitutions	Direct sequencing	Neven B et al., 2004
34	Substitutions	Genomic: g.8202A>G CDS: c.914A>G AnimoAcid: p.Asp305Gly	Substitutions	Direct sequencing	Neven B et al., 2004
35	Substitutions	Genomic: g.8220T>C CDS: c.932T>C AnimoAcid: p.Phe311Ser	Substitutions	Direct sequencing	Neven B et al., 2004
36	Substitutions	Genomic: g.8507A>C CDS: c.1219A>C AnimoAcid: p.Thr407Pro	Substitutions	Direct sequencing	Neven B et al., 2004
37	Substitutions	Genomic: g.8601C>T CDS: c.1313C>T AnimoAcid: p.Thr438Ile	Substitutions	Direct sequencing	Neven B et al., 2004
38	Substitutions	Genomic: g.9003A>G CDS: c.1715A>G AnimoAcid: p.Tyr572Cys	Substitutions	Direct sequencing	Neven B et al., 2004
39	Substitutions	Genomic: g.7809T>C CDS: c.521T>C AnimoAcid: p.Ile174Thr	Substitutions	Direct sequencing	Stojanov S et al., 2004
40	Substitutions	Genomic: g.8757G>A CDS: c.1469G>A AnimoAcid: p.Arg490Lys	Substitutions	Direct sequencing	Arostegui JI et al., 2004
41	Substitutions	Genomic: g.7886G>A CDS: c.598G>A AnimoAcid: p.Val200Met	Substitutions	Direct sequencing	Arostegui JI et al., 2004
42	Substitutions	Genomic: g.8208T>C CDS: c.920T>C AnimoAcid: p.Leu307Pro	Substitutions	Direct sequencing	Arostegui JI et al., 2004
43	Substitutions	Genomic: g.8337C>T CDS: c.1049C>T AnimoAcid: p.Thr350Met	Substitutions	Direct sequencing	Arostegui JI et al., 2004
44	Substitutions	Genomic: g.8201G>A CDS: c.913G>A AnimoAcid: p.Asp305Asn	Substitutions	Direct sequencing	Arostegui JI et al., 2004
45	Substitutions	Genomic: g.9003A>G CDS: c.1715A>G AnimoAcid: p.Tyr572Cys	Substitutions	Direct sequencing	Saito M et al., 2005
46	Substitutions	Genomic: g.8287C>A CDS: c.999C>A AnimoAcid: p.Ser333Arg	Substitutions	Direct sequencing	Boschan C et al., 2006
47	Substitutions	Genomic: g.8071T>G CDS: c.783T>G AnimoAcid: p.Cys261Trp	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
48	Substitutions	Genomic: g.8079T>C CDS: c.791T>C AnimoAcid: p.Val264Ala	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
49	Substitutions	Genomic: g.8084C>T CDS: c.796C>T AnimoAcid: p.Leu266Phe	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
50	Substitutions	Genomic: g.8345G>C CDS: c.1057G>C AnimoAcid: p.Val353Leu	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
51	Substitutions	Genomic: g.8623C>G CDS: c.1335C>G AnimoAcid: p.Phe445Leu	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
52	Substitutions	Genomic: g.8862T>G CDS: c.1574T>G AnimoAcid: p.Phe525Cys	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
53	Substitutions	Genomic: g.8981T>A CDS: c.1693T>A AnimoAcid: p.Tyr565Asn	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
54	Substitutions	Genomic: g.8208T>C CDS: c.920T>C AnimoAcid: p.Leu307Pro	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
55	Substitutions	Genomic: g.8352T>C CDS: c.1064T>C AnimoAcid: p.Leu355Pro	Substitutions	Direct sequencing	Aksentijevich I et al., 2007
56	Substitutions	Genomic: g.9270T>A CDS: c.1982T>A AnimoAcid: p.Met661Lys	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
57	Substitutions	Genomic: g.8610C>T CDS: c.1322C>T AnimoAcid: p.Ala441Val	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
58	Substitutions	Genomic: g.8072C>T CDS: c.784C>T AnimoAcid: p.Arg262Trp	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
59	Substitutions	Genomic: g.8201G>A CDS: c.913G>A AnimoAcid: p.Asp305Asn	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
60	Substitutions	Genomic: g.8337C>T CDS: c.1049C>T AnimoAcid: p.Thr350Met	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
61	Substitutions	Genomic: g.8999G>C CDS: c.1711G>C AnimoAcid: p.Gly571Arg	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
62	Substitutions	Genomic: g.9190G>T CDS: c.1902G>T AnimoAcid: p.Leu634Phe	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
63	Substitutions	Genomic: g.8601C>A CDS: c.1313C>A AnimoAcid: p.Thr438Asn	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2007
64	Substitutions	Genomic: g.8352T>C CDS: c.1064T>C AnimoAcid: p.Leu355Pro	Substitutions	NA	Stack JH et al., 2005
65	Substitutions	Genomic: g.9270T>A CDS: c.1982T>A AnimoAcid: p.Met661Lys	Substitutions	NA	Stack JH et al., 2005
66	Substitutions	Genomic: g.8867G>A CDS: c.1579G>A AnimoAcid: p.Glu527Lys	Substitutions	NA	Stack JH et al., 2005
67	Substitutions	Genomic: g.8352T>C CDS: c.1064T>C AnimoAcid: p.Leu355Pro	Substitutions	Direct sequencing	Hoffman HM et al., 2003
68	Substitutions	Genomic: g.8084C>T CDS: c.796C>T AnimoAcid: p.Leu266Phe	Substitutions	Direct sequencing, PCR based assay	Saito M et al., 2008
69	Substitutions	Genomic: g.8352T>C CDS: c.1064T>C AnimoAcid: p.Leu355Pro	Substitutions	Direct sequencing	Shpall RL et al., 2004
70	Substitutions	Genomic: g.7886G>A CDS: c.598G>A AnimoAcid: p.Val200Met	Substitutions	Direct sequencing	Porksen G et al., 2004
71	Substitutions	Genomic: g.8072C>T CDS: c.784C>T AnimoAcid: p.Arg262Trp	Substitutions	Direct sequencing	Kanegane H et al., 2008
72	Substitutions	Genomic: g.8213G>A CDS: c.925G>A AnimoAcid: p.Gly309Ser	Substitutions	Direct sequencing, PCR based assay	Saito M et al., 2008
73	Substitutions	Genomic: g.8993G>A CDS: c.1705G>A AnimoAcid: p.Glu569Lys	Substitutions	Direct sequencing, PCR based assay	Saito M et al., 2008
74	Substitutions	Genomic: g.9279T>C CDS: c.1991T>C AnimoAcid: p.Met664Thr	Substitutions	Direct sequencing	Saito M et al., 2008
75	Substitutions	Genomic: g.8072C>T CDS: c.784C>T AnimoAcid: p.Arg262Trp	Substitutions	Direct sequencing	Saito M et al., 2008
76	Substitutions	Genomic: g.8201G>A CDS: c.913G>A AnimoAcid: p.Asp305Asn	Substitutions	Direct sequencing	Saito M et al., 2008
77	Substitutions	Genomic: g.8601C>T CDS: c.1313C>T AnimoAcid: p.Thr438Ile	Substitutions	Direct sequencing	Jesus AA et al., 2008
78	Substitutions	Genomic: g.13542G>A CDS: c.2269G>A AnimoAcid: p.Gly757Arg	Substitutions	Direct sequencing	Jesus AA et al., 2008
79	Substitutions	Genomic: g.7737G>A CDS: c.449G>A AnimoAcid: p.Cys150Tyr	Substitutions	Direct sequencing	Jesus AA et al., 2008
80	Substitutions	Genomic: g.9077A>G CDS: c.1789A>G AnimoAcid: p.Ser597Gly	Substitutions	Direct sequencing	Kanariou M et al., 2009
81	Substitutions	Genomic: g.7886G>A CDS: c.598G>A AnimoAcid: p.Val200Met	Substitutions	Direct sequencing	Loock J et al., 2010
82	Substitutions	Genomic: g.8192G>C CDS: c.904G>C AnimoAcid: p.Asp302His	Substitutions	RFLP, Pyrosequencing	Arostegui JI et al., 2010
83	Substitutions	Genomic: g.19898A>G CDS: c.2582A>G AnimoAcid: p.Tyr861Cys	Substitutions	Direct sequencing, PCR based assay	Jeru I et al., 2010