IKBKG
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Duplications Genomic: g.22125dupC
CDS: c.1167dupC
AnimoAcid: p.Glu390fs		 Duplications Fluorescent sequencing Lee WI et al., 2005
2 Substitutions Genomic: g.22207T>C
CDS: c.1249T>C
AnimoAcid: p.Cys417Arg		 Substitutions Direct sequencing, PCR based assay Zonana J et al., 2000
3 Substitutions Genomic: g.22129G>T
CDS: c.1171G>T
AnimoAcid: p.Glu391X		 Substitutions Direct sequencing, PCR based assay Zonana J et al., 2000
4 Substitutions Genomic: g.22208G>T
CDS: c.1250G>T
AnimoAcid: p.Cys417Phe		 Substitutions Direct sequencing, PCR based assay Zonana J et al., 2000
5 Insertion Genomic: g.22125_22126insC
CDS: c.1167_1168insC
AnimoAcid: p.Glu390fs		 Insertion Direct sequencing, PCR based assay Zonana J et al., 2000
6 Substitutions Genomic: g.22207T>C
CDS: c.1249T>C
AnimoAcid: p.Cys417Arg		 Substitutions Direct sequencing Jain A et al., 2001
7 Substitutions Genomic: g.22175A>T
CDS: c.1217A>T
AnimoAcid: p.Asp406Val		 Substitutions Direct sequencing Jain A et al., 2001
8 Insertion Genomic: g.22125_22126insC
CDS: c.1167_1168insC
AnimoAcid: p.Glu390fs		 Insertion Direct sequencing, PCR based assay Doffinger R et al., 2001
9 Substitutions Genomic: g.22217A>G
CDS: c.1259A>G
AnimoAcid: p.X420Trp		 Substitutions Direct sequencing, PCR based assay Doffinger R et al., 2001
10 Substitutions Genomic: g.21334G>A
CDS: c.931G>A
AnimoAcid: p.Asp311Asn		 Substitutions Direct sequencing, PCR based assay Doffinger R et al., 2001
11 Insertion Genomic: g.22176_22177insA
CDS: c.1218_1219insA
AnimoAcid: p.Met407fs		 Insertion Direct sequencing, PCR based assay Doffinger R et al., 2001
12 Substitutions Genomic: g.18169G>C
CDS: c.524G>C
AnimoAcid: p.Arg175Pro		 Substitutions Direct sequencing, PCR based assay Doffinger R et al., 2001
13 Substitutions Genomic: g.19453T>C
CDS: c.680T>C
AnimoAcid: p.Leu227Pro		 Substitutions Direct sequencing, PCR based assay Doffinger R et al., 2001
14 Substitutions Genomic: g.22207T>C
CDS: c.1249T>C
AnimoAcid: p.Cys417Arg		 Substitutions Direct sequencing, PCR based assay Doffinger R et al., 2001
15 Substitutions Genomic: g.20661C>G
CDS: c.863C>G
AnimoAcid: p.Ala288Gly		 Substitutions Direct sequencing, PCR based assay Doffinger R et al., 2001
16 Substitutions Genomic: g.22217A>G
CDS: c.1259A>G
AnimoAcid: p.X420Trp		 Substitutions Direct sequencing, PCR based assay Mansour S et al., 2001
17 Substitutions Genomic: g.16347T>G
CDS: c.458T>G
AnimoAcid: p.Leu153Arg		 Substitutions Direct sequencing, PCR based assay Orange JS et al., 2002
18 Substitutions Genomic: g.22165C>T
CDS: c.1207C>T
AnimoAcid: p.Gln403X		 Substitutions Direct sequencing, PCR based assay Orange JS et al., 2002
19 Substitutions Genomic: g.22207T>C
CDS: c.1249T>C
AnimoAcid: p.Cys417Arg		 Substitutions Direct sequencing, PCR based assay Orange JS et al., 2002
20 Substitutions Genomic: g.16347T>G
CDS: c.458T>G
AnimoAcid: p.Leu153Arg		 Substitutions Direct sequencing Orange JS et al., 2004
21 Substitutions Genomic: g.21715G>A
CDS: c.1056-1G>A
AnimoAcid: 		Substitutions Direct sequencing Orange JS et al., 2004
22 Substitutions Genomic: g.22165C>T
CDS: c.1207C>T
AnimoAcid: p.Gln403X		 Substitutions Direct sequencing Orange JS et al., 2004
23 Substitutions Genomic: g.22207T>C
CDS: c.1249T>C
AnimoAcid: p.Cys417Arg		 Substitutions Direct sequencing Orange JS et al., 2004
24 Substitutions Genomic: g.22208G>A
CDS: c.1250G>A
AnimoAcid: p.Cys417Tyr		 Substitutions Direct sequencing Orange JS et al., 2004
25 Insertion Genomic: g.9869_9870insC
CDS: c.110_111insC
AnimoAcid: p.Ala37fs		 Insertion Direct sequencing Niehues T et al., 2004
26 Deletion Genomic: g.20609_20626del
CDS: c.811_828del
AnimoAcid: p.Glu271fs		 Deletion Direct sequencing Ku CL et al., 2005
27 Substitutions Genomic: g.13973T>C
CDS: c.239T>C
AnimoAcid: p.Leu80Pro		 Substitutions Direct sequencing Ku CL et al., 2005
28 Duplications Genomic: g.20590dupA
CDS: c.792dupA
AnimoAcid: p.Lys264fs		 Duplications Direct sequencing Martinez-Pomar N et al., 2005
29 Duplications Genomic: g.22125dupC
CDS: c.1167dupC
AnimoAcid: p.Glu390ArgfsX5		 Duplications Direct sequencing Schmid JM et al., 2006
30 Substitutions Genomic: g.21347A>C
CDS: c.944A>C
AnimoAcid: p.Glu315Ala		 Substitutions Direct sequencing Filipe-Santos O et al., 2006
31 Substitutions Genomic: g.21359G>A
CDS: c.956G>A
AnimoAcid: p.Arg319Gln		 Substitutions Direct sequencing Filipe-Santos O et al., 2006
32 Substitutions Genomic: g.16406C>G
CDS: c.517C>G
AnimoAcid: p.Arg173Gly		 Substitutions Direct sequencing Ku CL et al., 2007
33 Substitutions Genomic: g.14071G>A
CDS: c.337G>A
AnimoAcid: p.Asp113Asn		 Substitutions Dideoxy fingerprinting, PCR based assay Salt BH et al., 2008
34 Duplications Genomic: g.22125dupC
CDS: c.1167dupC
AnimoAcid: p.Glu390ArgfsX5		 Duplications Direct sequencing Mancini AJ et al., 2008
35 Duplications Genomic: g.22119dupC
CDS: c.1161dupC
AnimoAcid: p.Glu390ArgfsX4		 Duplications Direct sequencing Kosaki K et al., 2001
36 Deletion Genomic: g.22119delC
CDS: c.1161delC
AnimoAcid: p.Glu390fs		 Deletion CSGE, Direct sequencing Aradhya S et al., 2001
37 Duplications Genomic: g.22119dupC
CDS: c.1161dupC
AnimoAcid: p.Glu390ArgfsX5		 Duplications CSGE, Direct sequencing Aradhya S et al., 2001
38 Duplications Genomic: g.22124_22136dup13
CDS: c.1166_1178dup13
AnimoAcid: p.Asp394ArgfsX5		 Duplications CSGE, Direct sequencing Aradhya S et al., 2001
39 Deletion Genomic: g.22121_22133del13
CDS: c.1163_1175del13
AnimoAcid: p.Pro388fs		 Deletion CSGE, Direct sequencing Aradhya S et al., 2001
40 Substitutions Genomic: g.9928G>A
CDS: c.169G>A
AnimoAcid: p.Glu57Lys		 Substitutions Denaturing HPLC, Direct sequencing Fusco F et al., 2004
41 Deletion Genomic: g.14000_14002delAGA
CDS: c.266_268delAGA
AnimoAcid: p.Lys90del		 Deletion Denaturing HPLC, Direct sequencing Fusco F et al., 2004
42 Substitutions Genomic: g.14071G>A
CDS: c.337G>A
AnimoAcid: p.Asp113Asn		 Substitutions Denaturing HPLC, Direct sequencing Fusco F et al., 2004
43 Substitutions Genomic: g.14101C>T
CDS: c.367C>T
AnimoAcid: p.Arg123Trp		 Substitutions Denaturing HPLC, Direct sequencing Fusco F et al., 2004
44 Substitutions Genomic: g.9943C>T
CDS: c.184C>T
AnimoAcid: p.Arg62X		 Substitutions Denaturing HPLC, Direct sequencing Fusco F et al., 2004
45 Substitutions Genomic: g.19488C>T
CDS: c.715C>T
AnimoAcid: p.Gln239X		 Substitutions Denaturing HPLC, Direct sequencing Fusco F et al., 2004
46 Substitutions Genomic: g.22108C>T
CDS: c.1150C>T
AnimoAcid: p.Gln384X		 Substitutions Denaturing HPLC, Direct sequencing Fusco F et al., 2004
47 Insertion Genomic: g.21346_21347insG
CDS: c.943_944insG
AnimoAcid: p.Glu315GlyfsX79		 Insertion Denaturing HPLC, Direct sequencing Fusco F et al., 2004
48 Substitutions Genomic: g.19546G>A
CDS: c.768+5G>A
AnimoAcid: 		Substitutions Direct sequencing Orstavik KH et al., 2006
49 Insertion Genomic: g.22125_22126insC
CDS: c.1167_1168insC
AnimoAcid: p.Glu390ArgfsX5		 Insertion NA Tono C et al., 2007
50 Duplications Genomic: g.22125dupC
CDS: c.1167dupC
AnimoAcid: p.Glu390ArgfsX5		 Duplications NA Chang TT et al., 2008
51 Substitutions Genomic: g.21370G>C
CDS: c.967G>C
AnimoAcid: p.Ala323Pro		 Substitutions Direct sequencing Sebban-Benin H et al., 2007
52 Substitutions Genomic: g.19491G>T
CDS: c.718G>T
AnimoAcid: p.Glu240X		 Substitutions Direct sequencing Has C et al., 2007
53 Substitutions Genomic: g.22208G>T
CDS: c.1250G>T
AnimoAcid: p.Cys417Phe		 Substitutions Direct sequencing, PCR based assay Doffinger R et al., 2001
54 Deletion Genomic: c.400-?_1260+?del
CDS:
AnimoAcid: 		Deletion PCR based assay Zou CC et al., 2007
55 Substitutions Genomic: g.21715G>A
CDS: c.1056-1G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Orange JS et al., 2004
56 Duplications Genomic: g.16289-?_19541dup
CDS: c.400-?_768dup
AnimoAcid: p.Lys224fsX9		 Duplications Direct sequencing, Southern blotting Nishikomori R et al., 2004
57 Substitutions Genomic: g.5504G>T
CDS: c.-4257G>T
AnimoAcid: 		Substitutions Direct sequencing Mooster JL et al., 2010
58 Substitutions Genomic: g.16326T>G
CDS: c.437T>G
AnimoAcid: p.Val146Gly		 Substitutions Direct sequencing Devora GA et al., 2010
59 Deletion Genomic: g.22141_22142delTT
CDS: c.1183_1184delTT
AnimoAcid: p.Phe395LeufsX11		 Deletion Direct sequencing Roberts CM et al., 2010
60 Substitutions Genomic: g.21346G>C
CDS: c.943G>C
AnimoAcid: p.Glu315Gln		 Substitutions Direct sequencing Hoshina T et al., 2011
61 Substitutions Genomic: g.21336C>G
CDS: c.933C>G
AnimoAcid: p.Asp311Glu		 Substitutions Direct sequencing Imamura M et al., 2011
62 Substitutions Genomic: g.20566G>C
CDS: c.769-1G>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Karakawa S et al., 2011
63 Substitutions Genomic: g.21335A>G
CDS: c.932A>G
AnimoAcid: p.Asp311Gly		 Substitutions Direct sequencing Hubeau M et al., 2011