IL12RB1
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.14668A>T
CDS: c.913A>T
AnimoAcid: p.Lys305X		 Substitutions Direct sequencing Altare F et al., 1998
2 Substitutions Genomic: g.11080A>G
CDS: c.641A>G
AnimoAcid: p.Gln214Arg		 Substitutions Direct sequencing Altare F et al., 1998
3 Substitutions Genomic: g.13372G>C
CDS: c.783+1G>C
AnimoAcid: p.Glu234AlafsX33		 Substitutions Direct sequencing Altare F et al., 1998
4 Substitutions Genomic: g.3426C>T
CDS: c.94C>T
AnimoAcid: p.Gln32X		 Substitutions Direct sequencing de Jong R et al., 1998
5 Substitutions Genomic: g.17279C>T
CDS: c.1126C>T
AnimoAcid: p.Gln376X		 Substitutions Direct sequencing de Jong R et al., 1998
6 Deletion Genomic: c.409_549del
CDS:
AnimoAcid: p.Val137_Leu183del		 Deletion Direct sequencing de Jong R et al., 1998
7 Substitutions Genomic: g.11076C>T
CDS: c.637C>T
AnimoAcid: p.Arg213Trp		 Substitutions Direct sequencing Sakai T et al., 2001
8 Substitutions Genomic: g.11076C>T
CDS: c.637C>T
AnimoAcid: p.Arg213Trp		 Substitutions Direct sequencing Altare F et al., 2001
9 Substitutions Genomic: g.10559A>G
CDS: c.550-2A>G
AnimoAcid: 		Substitutions Direct sequencing Elloumi-Zghal H et al., 2002
10 Substitutions Genomic: g.133G>A
CDS: c.64+5G>A
AnimoAcid: 		Substitutions Direct sequencing Elloumi-Zghal H et al., 2002
11 Deletion Genomic: g.11060_11066delATTCCAG
CDS: c.621_627delATTCCAG
AnimoAcid: p.Glu207fs		 Deletion Direct sequencing Lichtenauer-Kaligis EG et al., 2003
12 Deletion Genomic: g.9354_9370del
CDS: c.531_547del
AnimoAcid: p.Ser178fs		 Deletion Direct sequencing Lichtenauer-Kaligis EG et al., 2003
13 Deletion Genomic: g.11501_23667del
CDS: c.700+362_1619-944del
AnimoAcid: 		Deletion Direct sequencing Fieschi C et al., 2004
14 Deletion Genomic: g.9290_9306del
CDS: c.467_483del
AnimoAcid: p.Arg156ProfsX3		 Deletion Direct sequencing Sanal O et al., 2006
15 Substitutions Genomic: g.13372G>A
CDS: c.783+1G>A
AnimoAcid: 		Substitutions Direct sequencing Sanal O et al., 2006
16 Substitutions Genomic: g.9341G>C
CDS: c.518G>C
AnimoAcid: p.Arg173Pro		 Substitutions Direct sequencing Sanal O et al., 2006
17 Substitutions Genomic: g.11071G>C
CDS: c.632G>C
AnimoAcid: p.Arg211Pro		 Substitutions Direct sequencing Lee WI et al., 2006
18 Substitutions Genomic: g.25768T>G
CDS: c.1791+2T>G
AnimoAcid: 		Substitutions Direct sequencing Cleary AM et al., 2003
19 Substitutions Genomic: g.10567T>A
CDS: c.556T>A
AnimoAcid: p.Cys186Ser		 Substitutions Direct sequencing Ehlayel M et al., 2008
20 Substitutions Genomic: g.11071G>C
CDS: c.632G>C
AnimoAcid: p.Arg211Pro		 Substitutions Direct sequencing Lee WI et al., 2009
21 Substitutions Genomic: g.9341G>C
CDS: c.518G>C
AnimoAcid: p.Arg173Pro		 Substitutions Direct sequencing Aksu G et al., 2001
22 Substitutions Genomic: g.14668A>T
CDS: c.913A>T
AnimoAcid: p.Lys305X		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
23 Substitutions Genomic: g.11076C>T
CDS: c.637C>T
AnimoAcid: p.Arg213Trp		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
24 Substitutions Genomic: g.17253A>G
CDS: c.1100A>G
AnimoAcid: p.Tyr367Cys		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
25 Deletion-Insertion Genomic: g.24615_24616delGCinsTT
CDS: c.1623_1624delGCinsTT
AnimoAcid: p.Gln542X		 Deletion-Insertion Direct sequencing, SSCP Fieschi C et al., 2003
26 Substitutions Genomic: g.13372G>A
CDS: c.783+1G>A
AnimoAcid: 		Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
27 Substitutions Genomic: g.9341G>C
CDS: c.518G>C
AnimoAcid: p.Arg173Pro		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
28 Deletion-Insertion Genomic: g.10568_10574delins8
CDS: c.557_563delins8
AnimoAcid: 		Deletion-Insertion Direct sequencing, SSCP Fieschi C et al., 2003
29 Deletion Genomic: g.11501_23667del
CDS: c.700+362_1619-944del
AnimoAcid: p.Glu234_Ile539del		 Deletion Direct sequencing, SSCP Fieschi C et al., 2003
30 Substitutions Genomic: g.18361G>A
CDS: c.1190-1G>A
AnimoAcid: 		Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
31 Substitutions Genomic: g.10567T>A
CDS: c.556T>A
AnimoAcid: p.Cys186Ser		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
32 Substitutions Genomic: g.25768T>G
CDS: c.1791+2T>G
AnimoAcid: 		Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
33 Substitutions Genomic: g.9374T>C
CDS: c.549+2T>C
AnimoAcid: 		Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
34 Substitutions Genomic: g.3426C>T
CDS: c.94C>T
AnimoAcid: p.Gln32X		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
35 Substitutions Genomic: g.17279C>T
CDS: c.1126C>T
AnimoAcid: p.Gln376X		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
36 Duplications Genomic: g.25723_25724dupCA
CDS: c.1748_1749dupCA
AnimoAcid: p.Pro584HisfsX37		 Duplications Direct sequencing, SSCP Fieschi C et al., 2003
37 Deletion-Insertion Genomic: g.20303_20310delins16
CDS: c.1440_1447delins16
AnimoAcid: 		Deletion-Insertion Direct sequencing, SSCP Fieschi C et al., 2003
38 Substitutions Genomic: g.9335A>C
CDS: c.512A>C
AnimoAcid: p.Gln171Pro		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
39 Deletion-Insertion Genomic: g.14762_14763delinsG
CDS: c.1007_1008delinsG
AnimoAcid: p.Ala336GlyfsX10		 Deletion-Insertion Direct sequencing, SSCP Fieschi C et al., 2003
40 Substitutions Genomic: g.4729T>C
CDS: c.230T>C
AnimoAcid: p.Leu77Pro		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
41 Substitutions Genomic: g.14717C>A
CDS: c.962C>A
AnimoAcid: p.Ser321X		 Substitutions Direct sequencing, SSCP Fieschi C et al., 2003
42 Substitutions Genomic: g.13372G>A
CDS: c.783+1G>A
AnimoAcid: 		Substitutions Direct sequencing Tanir G et al., 2006
43 Duplications Genomic: g.13298dupC
CDS: c.710dupC
AnimoAcid: p.Gln238ThrfsX45		 Duplications Direct sequencing Tanir G et al., 2006
44 Duplications Genomic: g.11067_11083dup
CDS: c.628_644dup
AnimoAcid: p.Gly216SerfsX31		 Duplications Direct sequencing Tanir G et al., 2006
45 Substitutions Genomic: g.6049C>A
CDS: c.402C>A
AnimoAcid: p.Tyr134X		 Substitutions Direct sequencing Luangwedchakarn V et al., 2009
46 Deletion Genomic: g.3397_3400delCTGC
CDS: c.65_68delCTGC
AnimoAcid: 		Deletion Direct sequencing Haerynck F et al., 2008
47 Substitutions Genomic: g.14608C>T
CDS: c.853C>T
AnimoAcid: p.Gln285X		 Substitutions NA Lee PP et al., 2008
48 Substitutions Genomic: g.25768T>G
CDS: c.1791+2T>G
AnimoAcid: 		Substitutions NA Lee PP et al., 2008
49 Deletion-Insertion Genomic: g.24615_24616delGCinsTT
CDS: c.1623_1624delGCinsTT
AnimoAcid: p.Gln542X		 Deletion-Insertion Direct sequencing Haerynck F et al., 2008
50 Deletion-Insertion Genomic: g.24615_24616delGCinsTT
CDS: c.1623_1624delGCinsTT
AnimoAcid: p.Gln542X		 Deletion-Insertion Direct sequencing, PCR based assay Yancoski J et al., 2009
51 Substitutions Genomic: g.25768T>G
CDS: c.1791+2T>G
AnimoAcid: 		Substitutions Direct sequencing Pedraza-Sanchez S et al., 2010
52 Deletion-Insertion Genomic: g.24615_24616delGCinsTT
CDS: c.1623_1624delGCinsTT
AnimoAcid: p.Gln542X		 Deletion-Insertion Direct sequencing Gruenberg DA et al., 2010
53 Substitutions Genomic: g.14608C>T
CDS: c.853C>T
AnimoAcid: p.Gln285X		 Substitutions Direct sequencing Xie N et al., 2008
54 Substitutions Genomic: g.9341G>C
CDS: c.518G>C
AnimoAcid: p.Arg173Pro		 Substitutions PCR based assay van de Vosse E et al., 2010
55 Substitutions Genomic: g.129G>T
CDS: c.64+1G>T
AnimoAcid: 		Substitutions Direct sequencing Aytekin C et al., 2011
56 Substitutions Genomic: g.20319C>T
CDS: c.1456C>T
AnimoAcid: p.Arg486X		 Substitutions Direct sequencing Pedraza S et al., 2010
57 Substitutions Genomic: g.25768T>G
CDS: c.1791+2T>G
AnimoAcid: 		Substitutions Direct sequencing Pedraza S et al., 2010
58 Substitutions Genomic: g.14602C>T
CDS: c.847C>T
AnimoAcid: p.Arg283X		 Substitutions Direct sequencing, PCR based assay Schejbel L et al., 2011
59 Deletion Genomic: g.13298delC
CDS: c.710delC
AnimoAcid: p.Pro237HisfsX5		 Deletion NA Jirapongsananuruk O et al., 2012
60 Substitutions Genomic: g.11064C>T
CDS: c.625C>T
AnimoAcid: p.Gln209X		 Substitutions NA Jirapongsananuruk O et al., 2012
61 Substitutions Genomic: g.9290G>A
CDS: c.467G>A
AnimoAcid: p.Arg156His		 Substitutions Direct sequencing Palamaro L et al., 2012
62 Substitutions Genomic: g.22955C>G
CDS: c.1561C>G
AnimoAcid: p.Arg521Gly		 Substitutions Direct sequencing Potjewijd J et al., 2012