NLRP3 (NM_001243133.1) sequence variants
(CIAS1/NALP3/PYPAF1/CLR1.1)

Editor(s): Hal HOFFMAN   

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Total current number of sequence variants for NLRP3 : 172

Although it is common practice to identify the first Methionine (Meth) residue following a stop as the first amino acid of a protein, this database has chosen to use the second Meth residue because the use of the second Meth is more prevalent and it has better Kozak consensus sequence. In addition the first Meth is not present in the highly conserved mouse homolog of CIAS1. Therefore the initial 5 amino acids in the protein sequence used in this database are MASTR, and not MKMAS.

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
H49Rexon 1c.146A>Gp.His49Arg
 2013-07-01
A69Aexon 1c.207C>Tp.(=)
 2013-05-06
K355Texon 3c.274G>Tp.Lys355Thr
 2013-12-13
c.278-196T>Cintron 1c.278-196T>C-
 2007-08-14
c.278-45T>Cintron 1c.278-45T>C-
 2008-01-21
c.398-229T>Gintron 2c.398-229T>G-
 2010-09-29
c.398-56C>Tintron 2c.398-56C>T-
 2004-12-10
c.398-15C>Tintron 2c.398-15C>T-
 2012-01-03
R135Hexon 3c.404G>Ap.Arg135His
 2010-12-13
Y141Yexon 3c.423C>Tp.(=)
 2005-05-23
C148Yexon 3c.443G>Ap.Cys148Tyr
 2007-12-24
E150Eexon 3c.450A>Gp.(=)
 2013-05-06
R168Qexon 3c.503G>Ap.Arg168Gln
 2006-01-25
R170Sexon 3c.508 C>Ap.Arg170Ser
 2013-12-13
I172Texon 3c.515T>Cp.Ile172Thr
 2004-03-18
K173Eexon 3c.517A>Gp.Lys173Glu
 2013-02-05
T193Kexon 3c.578C>Ap.Thr193Lys
 2011-01-04
S196Nexon 3c.587G>Ap.Ser196Asn
 2005-12-24
V198Mexon 3c.592G>Ap.Val198Met
 2002-07-12
D211N exon 3c.631G>Ap.Asp211Asn
 2013-08-30
H213Rexon 3c.638 A>Gp.His213Arg
 2014-02-21
T219Texon 3c.657C>Tp.(=)
 2002-07-28
A225Vexon 3c.674C>Tp.Ala225Val
 2008-04-23
T231Texon 3c.693A>Tp.(=)
 2012-08-22
L233Lexon 3c.699G>Ap.(=)
 2008-10-23
A242Aexon 3c.726G>Ap.(=)
 2002-07-28
C259Wexon 3c.777T>Gp.Cys259Trp
 2007-04-09
R260Wexon 3c.778C>Tp.Arg260Trp
 2002-06-21
R260Lexon 3c.779G>Tp.Arg260Leu
 2003-12-29
R260Pexon 3c.779G>Cp.Arg260Pro
 2003-12-29
R260Rexon 3c.780G>Ap.(=)
 2002-07-28
V262Aexon 3c.785T>Cp.Val262Ala
 2007-04-09
V262Gexon 3c.785T>Gp.Val262Gly
 2008-02-13
L264Fexon 3c.790C>Tp.Leu264Phe
 2007-04-09
L264Vexon 3c.790C>Gp.Leu264Val
 2007-05-17
L264Hexon 3c.791T>Ap.Leu264His
 2002-09-16
L264Rexon 3c.791T>Gp.Leu264Arg
 2004-08-17
T266Pexon 3c.796A>Cp.Thr266Pro
 2010-07-29
I288Mexon 3c.864C>Gp.Ile288Met
 2013-05-21
M299Vexon 3c.895A>Gp.Met299Val
 2008-04-23
G301Sexon 3c.901G>Ap.Gly301Ser
 2013-05-06
G301Dexon 3c.902G>Ap.Gly301Asp
 2003-02-28
D303Nexon 3c.907G>Ap.Asp303Asn
 2002-06-21
D303Hexon 3c.907G>Cp.Asp303His
 2007-03-15
D303Gexon 3c.908A>Gp.Asp303Gly
 2003-12-29
D303Aexon 3c.908A>Cp.Asp303Ala
 2013-12-13
E304Kexon 3c.910G>Ap.Glu304Lys
 2007-07-03
L305Pexon 3c.914T>Cp.Leu305Pro
 2002-07-12
Q306Kexon 3c.916C>Ap.Gln306Lys
 2002-07-28
Q306Eexon 3c.916C>Gp.Gln306Glu
 2009-03-30
G307Sexon 3c.919G>Ap.Gly307Ser
 2011-09-01
G307Vexon 3c.920G>Tp.Gly307Val
 2006-08-08
F309Sexon 3c.926T>Cp.Phe309Ser
 2002-07-28
F309Lexon 3c.926T>Ap.Phe309Leu
 2013-05-30
D310Dexon 3c.930C>Tp.(=)
 2003-04-19
E311Kexon 3c.931G>Ap.Glu311Lys
 2006-08-08
H312Pexon 3c.935A>Cp.His312Pro
 2007-12-26
I313Vexon 3c.937A>Gp.Ile313Val
 2009-03-09
P315Lexon 3c.944C>Tp.Pro315Leu
 2006-01-23
R325Wexon 3c.973C>Tp.Arg325Trp
 2009-01-07
R325Qexon 3c.974G>Ap.Arg325Gln
 2010-05-06
G326Eexon 3c.977G>Ap.Gly326Glu
 2005-07-03
S331Rexon 3c.993C>Ap.Ser331Arg
 2004-08-25
I334Vexon 3c.1000A>Gp.Ile334Val
 2009-09-21
P340Pexon 3c.1020C>Tp.(=)
 2004-09-21
L344Lexon 3c.1032G>Ap.(=)
 2006-09-01
T348Mexon 3c.1043C>Tp.Thr348Met
 2002-06-21
T348Texon 3c.1044G>Ap.(=)
 2013-05-06
P350Lexon 3c.1049C>Tp.Pro350Leu
 2013-02-05
V351Mexon 3c.1051G>Ap.Val351Met
 2006-01-24
V351Lexon 3c.1051G>Cp.Val351Leu
 2006-10-22
A352Texon 3c.1054G>Ap.Ala352Thr
 2009-06-19
A352Vexon 3c.1055C>Tp.Ala352Val
 2002-04-30
L353Pexon 3c.1058T>Cp.Leu353Pro
 2002-09-17
E354Dexon 3c.1062G>Tp.Glu354Asp
 2003-12-29
K355Nexon 3c.1065A>Tp.Lys355Asn
 2011-10-10
H358Rexon 3c.1073A>Gp.His358Arg
 2002-07-28
L369Mexon 3c.1105C>Ap.Leu369Met
 2012-09-03
A374Dexon 3c.1121C>Ap.Ala374Asp
 2002-09-16
K375Eexon 3c.1123A>Gp.Lys375Glu
 2011-08-03
E378Kexon 3c.1132G>Ap.Glu378Lys
 2012-01-12
T405Pexon 3c.1213A>Cp.Thr405Pro
 2003-12-29
M406Vexon 3c.1216A>Gp.Met406Val
 2011-10-10
M406Iexon 3c.1218G>Cp.Met406Ile
 2007-07-27
L411L C>Texon 3c.1231C>Tp.(=)
2003-05-27
L411Vexon 3c.1231C>Gp.Leu411Val
 2013-05-06
L411L G>Texon 3c.1233G>Tp.(=)
2013-12-13
W414Lexon 3c.1241G>Tp.Trp414Leu
 2008-08-05
I415Iexon 3c.1245C>Tp.(=)
 2013-05-06
T433Iexon 3c.1298C>Tp.Thr433Ile
 2011-10-10
S434Sexon 3c.1302C>Tp.(=)
 2002-07-28
K435Eexon 3c.1303A>Gp.Lys435Glu
 2013-07-01
T436Pexon 3c.1306A>Cp.Thr436Pro
 2006-02-28
T436Aexon 3c.1306A>Gp.Thr436Ala
 2007-06-23
T436DELexon 3c.1306_1308delp.Thr436del
 2008-04-02
T436Nexon 3c.1307C>Ap.Thr436Asn
 2002-07-28
T436Iexon 3c.1307C>Tp.Thr436Ile
 2003-12-29
A439Texon 3c.1315G>Ap.Ala439Thr
 2002-06-21
A439Pexon 3c.1315G>Cp.Ala439Pro
 2004-09-17
A439Vexon 3c.1316C>Tp.Ala439Val
 2002-04-30
Y441Hexon 3c.1321T>Cp.Tyr441His
 2008-12-02
Y441Yexon 3c.1323C>Tp.(=)
 2013-05-06
F443Lexon 3c.1329C>Gp.Phe443Leu
 2007-04-09
H458Hexon 3c.1374C>Tp.(=)
 2007-05-17
C461Cexon 3c.1383C>Tp.(=)
 2003-04-19
H463Hexon 3c.1389C>Tp.(=)
 2003-04-19
L467Lexon 3c.1401C>Tp.(=)
 2010-08-26
N477Kexon 3c.1431C>Ap.Asn4744Lys
 2007-07-03
I480Fexon 3c.1438A>Tp.Ile480Phe
 2007-05-23
R488Kexon 3c.1463G>Ap.Arg488Lys
 2003-01-13
A495Vexon 3c.1484 C>Tp.Ala495Val
 2007-03-15
M521Texon 3c.1562T>Cp.Met521Thr
 2013-07-02
F523Cexon 3c.1568T>Gp.Phe523Cys
 2007-04-09
F523LC>Aexon 3c.1569C>Ap.Phe523Leu
 2002-09-16
F523LC>Gexon 3c.1569C>Gp.Phe523Leu
 2002-09-16
E525Kexon 3c.1573G>Ap.Glu525Lys
 2005-08-16
E525Vexon 3c.1574A>Tp.Glu525Val
 2010-11-30
L534Lexon 3c.1600C>Tp.(=)
 2003-04-19
R548Cexon 3c.1642C>Tp.Arg548Cys
 2013-05-06
R554Xexon 3c.1660C>Tp.Arg554*
 2005-12-27
T557Aexon 3c.1669A>Gp.Thr557Ala
 2006-01-11
Y563Nexon 3c.1687T>Ap.Tyr563Asn
 2007-04-09
F566Lexon 3c.1698C>Ap.Phe566Leu
 2011-10-10
E567Kexon 3c.1699G>Ap.Glu567Lys
 2007-12-06
E567Aexon 3c.1700 A>Cp.Glu567Ala
 2013-12-13
K568Nexon 3c.1704G>Cp.Lys568Asn
 2011-10-10
G569Rexon 3c.1705G>Cp.Gly569Arg
 2002-06-21
G569Aexon 3c.1706G>Cp.Gly569Ala
 2008-03-13
Y570Cexon 3c.1709A>Gp.Tyr570Cys
 2002-09-16
Y570Fexon 3c.1709A>Tp.Tyr570Phe
 2006-04-04
L571Fexon 3c.1713G>Tp.Leu571Phe
 2008-02-25
L571FG>Cexon 3c.1713G>Cp.Leu571Phe
 2010-05-06
I572Fexon 3c.1714A>Tp.Ile572Phe
 2008-02-25
F573Sexon 3c.1718T>Cp.Phe573Ser
 2002-07-28
T587Iexon 3c.1760C>Tp.Thr587Ile
 2006-08-02
S595Gexon 3c.1783A>Gp.Ser595Gly
 2010-11-30
I598Fexon 3c.1792A>Tp.Ile598Phe
 2013-03-29
E627Gexon 3c.1880A>Gp.Glu627Gly
 2002-04-30
E627Dexon 3c.1881A>T p.Glu627Asp
 2010-09-09
L632Fexon 3c.1896G>Tp.Leu632Phe
 2003-12-29
D646Yexon 3c.1936 G>Tp.Asp646Tyr
 2014-02-24
M659Kexon 3c.1976T>Ap.Met659Lys
 2005-08-16
M662Texon 3c.1985T>Cp.Met662Thr
 2002-07-28
L677Pexon 3c.2030T>Cp.Leu677Pro
 2013-05-06
E688Kexon 3c.2062G>Ap.Glu688Lys
 2007-07-03
E690Kexon 3c.2068G>Ap.Glu690Lys
 2008-04-28
M701Texon 3c.2102T>Cp.Met701Thr
 2008-08-18
Q703Kexon 3c.2107C>Ap.Gln703Lys
 2002-12-12
S710Cexon 3c.2129C>Gp.Ser710Cys
 2004-11-15
A712Sexon 3c.2134G>Tp.Ala712Ser
 2013-08-16
c.2150+59G>Aintron 3c.2150+59G>A-
 2007-08-14
S726Gexon 4c.2176A>Gp.Ser726Gly
 2011-07-14
G755RG>Cexon 4c.2263G>Cp.Gly755Arg
 2006-08-08
G755RG>Aexon 4c.2263G>Ap.Gly755Arg
 2012-05-07
G755Aexon 4c.2264G>Cp.Glu755Ala
 2007-01-10
c.2321+85A>Gintron 4c.2321+85A>G-
 2005-12-29
VNTRintron 4c.2322-527_2322-486(6_12)-
 2007-08-14
c.2322-76C>Tintron 4c.2322-76 C>T-
 2004-12-10
c.2322-55_2322-54ins42intron 4c.2322-55_2322-54ins42-
 2004-12-10
c.2322-40 G>Aintron 4c.2322-40 G>A-
 2004-12-07
G809Sexon 5c.2425G>Ap.Gly809Ser
 2012-01-12
Y859Hexon 6c.2575T>Cp.Tyr859His
 2013-05-06
Y859Cexon 6c.2576A>Gp.Tyr859Cys
 2004-09-02
V860Vexon 6c.2580G>Tp.(=)
 2013-05-06
G866Rexon 6c.2596G>Ap.Gly866Arg
 2013-05-06
c.2663+859A>Cintron 6c.2663+859A>C-
 2007-08-14
T952Mexon 8c.2855C>Tp.Thr952Met
 2013-07-01
c.3005+25C>Tintron 8c.3005+25C>T-
 2008-01-21
c.3005+44C>Aintron 8c.3005+44C>A-
 2005-04-19
c.3006-45_-44delAGintron 8c.3006-45_3006-44del-
 2005-12-19
c.*177delC3UTc.*177delC-
 2005-12-19
c.*230C>G3UTc.*230C>G-
 2005-04-19