NOD2
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.2689G>A
CDS: c.413G>A
AnimoAcid: p.Arg138Gln		 Substitutions Direct sequencing Lesage S et al., 2002
2 Substitutions Genomic: g.13774G>A
CDS: c.1001G>A
AnimoAcid: p.Arg334Gln		 Substitutions Direct sequencing Miceli-Richard C et al., 2001
3 Substitutions Genomic: g.13773C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334Trp		 Substitutions Direct sequencing Coto-Segura P et al., 2007
4 Substitutions Genomic: g.13773C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334Trp		 Substitutions Direct sequencing Snyers B et al., 2006
5 Substitutions Genomic: g.14065C>T
CDS: c.1292C>T
AnimoAcid: p.Ser431Leu		 Substitutions NA Goyal M et al., 2007
6 Substitutions Genomic: g.15150G>A
CDS: c.2377G>A
AnimoAcid: p.Val793Met		 Substitutions NA Goyal M et al., 2007
7 Substitutions Genomic: g.26227G>A
CDS: c.2863G>A
AnimoAcid: p.Val955Ile		 Substitutions NA Goyal M et al., 2007
8 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Direct sequencing Bianchi V et al., 2007
9 Substitutions Genomic: g.14178C>T
CDS: c.1405C>T
AnimoAcid: p.Leu469Phe		 Substitutions Direct sequencing Miceli-Richard C et al., 2001
10 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Direct sequencing Bianchi V et al., 2007
11 Substitutions Genomic: g.13774G>A
CDS: c.1001G>A
AnimoAcid: p.Arg334Gln		 Substitutions NA, NA Meiorin SM et al., 2007
12 Substitutions Genomic: g.13773C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334Trp		 Substitutions Direct sequencing Miceli-Richard C et al., 2001
13 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing Hampe J et al., 2001
14 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Direct sequencing Hugot JP et al., 2001
15 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Restriction enzyme analysis Braat H et al., 2005
16 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Direct sequencing Hugot JP et al., 2001
17 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Restriction enzyme analysis Laghi L et al., 2005
18 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing Bianchi V et al., 2007
19 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing Hugot JP et al., 2001
20 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing Ogura Y et al., 2001
21 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Restriction enzyme analysis Braat H et al., 2005
22 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications PCR based assay Laghi L et al., 2005
23 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Restriction enzyme analysis Laghi L et al., 2005
24 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Restriction enzyme analysis Braat H et al., 2005
25 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing, SSCP Vind I et al., 2005
26 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Direct sequencing, SSCP Vind I et al., 2005
27 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Direct sequencing, SSCP Vind I et al., 2005
28 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing Bene J et al., 2006
29 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Direct sequencing Bene J et al., 2006
30 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Direct sequencing Bene J et al., 2006
31 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Direct sequencing D Inca R et al., 2006
32 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Direct sequencing D Inca R et al., 2006
33 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing D Inca R et al., 2006
34 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Restriction enzyme analysis Mardini HE et al., 2005
35 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Restriction enzyme analysis Mardini HE et al., 2005
36 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Restriction enzyme analysis Mardini HE et al., 2005
37 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions SSCP Jess T et al., 2005
38 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions SSCP Jess T et al., 2005
39 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications SSCP Jess T et al., 2005
40 Substitutions Genomic: g.2694G>A
CDS: c.418G>A
AnimoAcid: p.Ala140Thr		 Substitutions Direct sequencing Lesage S et al., 2002
41 Substitutions Genomic: g.2745T>C
CDS: c.469T>C
AnimoAcid: p.Trp157Arg		 Substitutions Direct sequencing Lesage S et al., 2002
42 Substitutions Genomic: g.13476C>T
CDS: c.703C>T
AnimoAcid: p.Arg235Cys		 Substitutions Direct sequencing Lesage S et al., 2002
43 Substitutions Genomic: g.13516T>G
CDS: c.743T>G
AnimoAcid: p.Leu248Arg		 Substitutions Direct sequencing Lesage S et al., 2002
44 Substitutions Genomic: g.13639A>G
CDS: c.866A>G
AnimoAcid: p.Asn289Ser		 Substitutions Direct sequencing Lesage S et al., 2002
45 Substitutions Genomic: g.13644G>A
CDS: c.871G>A
AnimoAcid: p.Asp291Asn		 Substitutions Direct sequencing Lesage S et al., 2002
46 Substitutions Genomic: g.13704C>T
CDS: c.931C>T
AnimoAcid: p.Arg311Trp		 Substitutions Direct sequencing Lesage S et al., 2002
47 Substitutions Genomic: g.13890C>T
CDS: c.1117C>T
AnimoAcid: p.Arg373Cys		 Substitutions Direct sequencing Lesage S et al., 2002
48 Substitutions Genomic: g.14014A>G
CDS: c.1241A>G
AnimoAcid: p.Asn414Ser		 Substitutions Direct sequencing Lesage S et al., 2002
49 Substitutions Genomic: g.14065C>T
CDS: c.1292C>T
AnimoAcid: p.Ser431Leu		 Substitutions Direct sequencing Lesage S et al., 2002
50 Substitutions Genomic: g.14094G>A
CDS: c.1321G>A
AnimoAcid: p.Glu441Lys		 Substitutions Direct sequencing Lesage S et al., 2002
51 Deletion Genomic: g.14444_14449delCCTGGG
CDS: c.1671_1676delCCTGGG
AnimoAcid: p.Leu558_Gly559del		 Deletion Direct sequencing Lesage S et al., 2002
52 Substitutions Genomic: g.14607G>A
CDS: c.1834G>A
AnimoAcid: p.Ala612Thr		 Substitutions Direct sequencing Lesage S et al., 2002
53 Substitutions Genomic: g.14823C>T
CDS: c.2050C>T
AnimoAcid: p.Arg684Trp		 Substitutions Direct sequencing Lesage S et al., 2002
54 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Direct sequencing Lesage S et al., 2002
55 Substitutions Genomic: g.14880C>T
CDS: c.2107C>T
AnimoAcid: p.Arg703Cys		 Substitutions Direct sequencing Lesage S et al., 2002
56 Substitutions Genomic: g.14910C>T
CDS: c.2137C>T
AnimoAcid: p.Arg713Cys		 Substitutions Direct sequencing Lesage S et al., 2002
57 Substitutions Genomic: g.15105G>A
CDS: c.2332G>A
AnimoAcid: p.Glu778Lys		 Substitutions Direct sequencing Lesage S et al., 2002
58 Substitutions Genomic: g.15150G>A
CDS: c.2377G>A
AnimoAcid: p.Val793Met		 Substitutions Direct sequencing Lesage S et al., 2002
59 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Direct sequencing Sun L et al., 2003
60 Substitutions Genomic: g.14880C>T
CDS: c.2107C>T
AnimoAcid: p.Arg703Cys		 Substitutions Direct sequencing Sun L et al., 2003
61 Substitutions Genomic: g.15105G>A
CDS: c.2332G>A
AnimoAcid: p.Glu778Lys		 Substitutions Direct sequencing Sun L et al., 2003
62 Substitutions Genomic: g.15150G>A
CDS: c.2377G>A
AnimoAcid: p.Val793Met		 Substitutions Direct sequencing Sun L et al., 2003
63 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Direct sequencing Sun L et al., 2003
64 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing Sun L et al., 2003
65 Substitutions Genomic: g.19513G>A
CDS: c.2527G>A
AnimoAcid: p.Glu843Lys		 Substitutions Direct sequencing, Denaturing HPLC Lesage S et al., 2002
66 Substitutions Genomic: g.19764A>G
CDS: c.2558A>G
AnimoAcid: p.Asn853Ser		 Substitutions Direct sequencing Lesage S et al., 2002
67 Substitutions Genomic: g.19793A>G
CDS: c.2587A>G
AnimoAcid: p.Met863Val		 Substitutions Direct sequencing Lesage S et al., 2002
68 Substitutions Genomic: g.22812G>A
CDS: c.2656G>A
AnimoAcid: p.Ala885Thr		 Substitutions Denaturing HPLC, Direct sequencing Lesage S et al., 2002
69 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Direct sequencing Lesage S et al., 2002
70 Substitutions Genomic: g.25522C>A
CDS: c.2753C>A
AnimoAcid: p.Ala918Asp		 Substitutions Direct sequencing Lesage S et al., 2002
71 Substitutions Genomic: g.25540G>A
CDS: c.2771G>A
AnimoAcid: p.Gly924Asp		 Substitutions Direct sequencing Lesage S et al., 2002
72 Substitutions Genomic: g.28401G>A
CDS: c.2933G>A
AnimoAcid: p.Gly978Glu		 Substitutions Denaturing HPLC, Direct sequencing Lesage S et al., 2002
73 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Direct sequencing Lesage S et al., 2002
74 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Denaturing gradient gel electrophoresis Cuthbert AP et al., 2002
75 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Denaturing HPLC, Direct sequencing Cuthbert AP et al., 2002
76 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Denaturing HPLC, Direct sequencing Cuthbert AP et al., 2002
77 Duplications Genomic: g.32732dupC
CDS: c.3019dupC
AnimoAcid: p.Leu1007ProfsX2		 Duplications Denaturing HPLC Lappalainen M et al., 2008
78 Substitutions Genomic: g.14953C>T
CDS: c.2180C>T
AnimoAcid: p.Pro727Leu		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
79 Substitutions Genomic: g.2389G>T
CDS: c.113G>T
AnimoAcid: p.Arg38Met		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
80 Substitutions Genomic: g.13837G>A
CDS: c.1064G>A
AnimoAcid: p.Trp355X		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
81 Substitutions Genomic: g.34613C>T
CDS: c.3055C>T
AnimoAcid: p.Arg1019X		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
82 Substitutions Genomic: g.25488T>C
CDS: c.2719T>C
AnimoAcid: p.Trp907Arg		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
83 Substitutions Genomic: g.14877C>T
CDS: c.2104C>T
AnimoAcid: p.Arg702Trp		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
84 Substitutions Genomic: g.25491G>C
CDS: c.2722G>C
AnimoAcid: p.Gly908Arg		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
85 Substitutions Genomic: g.10742C>T
CDS: c.566C>T
AnimoAcid: p.Thr189Met		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
86 Substitutions Genomic: g.13639A>G
CDS: c.866A>G
AnimoAcid: p.Asn289Ser		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
87 Substitutions Genomic: g.15145G>A
CDS: c.2372G>A
AnimoAcid: p.Arg791Gln		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
88 Substitutions Genomic: g.19793A>G
CDS: c.2587A>G
AnimoAcid: p.Met863Val		 Substitutions Denaturing HPLC Lappalainen M et al., 2008
89 Substitutions Genomic: g.13920G>A
CDS: c.1147G>A
AnimoAcid: p.Glu383Lys		 Substitutions Denaturing HPLC, Direct sequencing, PCR based assay van Duist MM et al., 2005
90 Substitutions Genomic: g.13773C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334Trp		 Substitutions Direct sequencing Stoevesandt J et al., 2010
91 Substitutions Genomic: g.13575C>T
CDS: c.802C>T
AnimoAcid: p.Pro268Ser		 Substitutions PCR-based RFLP Chua KH et al., 2009