CYBA
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.43C>T
CDS: c.7C>T
AnimoAcid: p.Gln3X		 Substitutions Direct sequencing, Restriction enzyme analysis, Southern blotting Yamada M et al., 2000
2 Substitutions Genomic: g.2947G>A
CDS: c.70G>A
AnimoAcid: p.Gly24Arg		 Substitutions Direct sequencing, Restriction enzyme analysis, Southern blotting Yamada M et al., 2000
3 Substitutions Genomic: g.43C>T
CDS: c.7C>T
AnimoAcid: p.Gln3X		 Substitutions Direct sequencing, PCR based assay, SSCP Ishibashi F et al., 2000
4 Substitutions Genomic: g.63G>A
CDS: c.27G>A
AnimoAcid: p.Trp9X		 Substitutions Direct sequencing, PCR based assay, SSCP Ishibashi F et al., 2000
5 Substitutions Genomic: g.2947G>A
CDS: c.70G>A
AnimoAcid: p.Gly24Arg		 Substitutions Direct sequencing, PCR based assay, SSCP Ishibashi F et al., 2000
6 Deletion Genomic: g.98_101del
CDS: c.58+4delAGTG
AnimoAcid: 		Deletion Direct sequencing, PCR based assay, SSCP Ishibashi F et al., 2000
7 Substitutions Genomic: g.7480C>T
CDS: c.371C>T
AnimoAcid: p.Ala124Val		 Substitutions Direct sequencing, PCR based assay, SSCP Ishibashi F et al., 2000
8 Substitutions Genomic: g.4935G>C
CDS: c.369+1G>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Porter CD et al., 1996
9 Substitutions Genomic: g.4277G>A
CDS: c.269G>A
AnimoAcid: p.Arg90Gln		 Substitutions Direct sequencing, Northern blotting, PCR based assay de Boer M et al., 1992
10 Substitutions Genomic: g.4289A>G
CDS: c.281A>G
AnimoAcid: p.His94Arg		 Substitutions Direct sequencing, Northern blotting, PCR based assay de Boer M et al., 1992
11 Substitutions Genomic: g.4296G>A
CDS: c.287+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Northern blotting, PCR based assay de Boer M et al., 1992
12 Deletion Genomic: g.4212-?_4295+?del
CDS: c.204_287del
AnimoAcid: 		Deletion Direct sequencing, Northern blotting, PCR based assay de Boer M et al., 1992
13 Deletion Genomic: g.4860_4866delGTGCCCG
CDS: c.295_301delGTGCCCG
AnimoAcid: p.Val99ProfsX89		 Deletion Direct sequencing, PCR based assay El Kares R et al., 2006
14 Substitutions Genomic: g.4277G>A
CDS: c.269G>A
AnimoAcid: p.Arg90Gln		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Dinauer MC et al., 1990
15 Substitutions Genomic: g.4919C>A
CDS: c.354C>A
AnimoAcid: p.Ser118Arg		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Dinauer MC et al., 1990
16 Substitutions Genomic: g.7576C>A
CDS: c.467C>A
AnimoAcid: p.Pro156Gln		 Substitutions Direct sequencing, PCR based assay Dinauer MC et al., 1991
17 Deletion Genomic: g.2936_3949del
CDS: c.59_203del
AnimoAcid: 		Deletion PCR based assay Rae J et al., 2000
18 Substitutions Genomic: g.3901T>C
CDS: c.155T>C
AnimoAcid: p.Leu52Pro		 Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
19 Deletion Genomic: g.4252delC
CDS: c.244delC
AnimoAcid: p.Pro82fs		 Deletion Direct sequencing, PCR based assay Rae J et al., 2000
20 Substitutions Genomic: g.3950G>T
CDS: c.203+1G>T
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
21 Substitutions Genomic: g.62G>A
CDS: c.26G>A
AnimoAcid: p.Trp9X		 Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
22 Substitutions Genomic: g.2951G>T
CDS: c.74G>T
AnimoAcid: p.Gly25Val		 Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
23 Substitutions Genomic: g.4276C>T
CDS: c.268C>T
AnimoAcid: p.Arg90Trp		 Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
24 Duplications Genomic: g.3908dupC
CDS: c.162dupC
AnimoAcid: p.Arg56fs		 Duplications Direct sequencing, PCR based assay Rae J et al., 2000
25 Substitutions Genomic: g.2984G>A
CDS: c.107G>A
AnimoAcid: p.Trp36X		 Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
26 Substitutions Genomic: g.2947G>A
CDS: c.70G>A
AnimoAcid: p.Gly24Arg		 Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
27 Substitutions Genomic: g.4919C>A
CDS: c.354C>A
AnimoAcid: p.Ser118Arg		 Substitutions Direct sequencing, PCR based assay Rae J et al., 2000
28 Deletion Genomic: g.98_101delAGTG
CDS: c.58+4delAGTG
AnimoAcid: p.Ile20fsX77		 Deletion Direct sequencing, PCR based assay de Boer M et al., 2005
29 Deletion Genomic: g.4838_4873del
CDS: c.288-15_308del
AnimoAcid: 		Deletion Direct sequencing, PCR based assay Stasia MJ et al., 2002
30 Insertion Genomic: g.3917_3918insG
CDS: c.171_172insG
AnimoAcid: p.Lys58fs		 Insertion Direct sequencing Wolach B et al., 2008
31 Substitutions Genomic: g.2947G>A
CDS: c.70G>A
AnimoAcid: p.Gly24Arg		 Substitutions Direct sequencing Wolach B et al., 2008
32 Substitutions Genomic: g.2948G>A
CDS: c.71G>A
AnimoAcid: p.Gly24Glu		 Substitutions Direct sequencing Wolach B et al., 2008
33 Substitutions Genomic: g.3910C>G
CDS: c.164C>G
AnimoAcid: p.Pro55Arg		 Substitutions Direct sequencing Wolach B et al., 2008
34 Deletion Genomic: g.4860_4866delGTGCCCG
CDS: c.295_301delGTGCCCG
AnimoAcid: p.Val99ProfsX89		 Deletion Direct sequencing Kannengiesser C et al., 2008
35 Substitutions Genomic: g.7479G>T
CDS: c.370G>T
AnimoAcid: p.Ala124Ser		 Substitutions Direct sequencing Kannengiesser C et al., 2008
36 Deletion Genomic: g.4860_4866delGTGCCCG
CDS: c.295_301delGTGCCCG
AnimoAcid: p.Val99ProfsX89		 Deletion Direct sequencing Bakri FG et al., 2009
37 Substitutions Genomic: g.2947G>A
CDS: c.70G>A
AnimoAcid: p.Gly24Arg		 Substitutions Direct sequencing Koker MY et al., 2009
38 Deletion Genomic: g.98_101delAGTG
CDS: c.58+4delAGTG
AnimoAcid: 		Deletion Direct sequencing Koker MY et al., 2009
39 Substitutions Genomic: g.4904C>A
CDS: c.339C>A
AnimoAcid: p.Cys113X		 Substitutions Direct sequencing Koker MY et al., 2009
40 Duplications Genomic: g.3912dupC
CDS: c.166dupC
AnimoAcid: p.Arg56fs		 Duplications Direct sequencing Koker MY et al., 2009
41 Deletion Genomic: g.3875-?_7697+?del
CDS: c.129_588del
AnimoAcid: 		Deletion PCR based assay Koker MY et al., 2009
42 Deletion Genomic: g.7517delC
CDS: c.408delC
AnimoAcid: p.Lys137fs		 Deletion Direct sequencing Koker MY et al., 2009
43 Deletion Genomic: g.3920delG
CDS: c.174delG
AnimoAcid: p.Arg59GlyfsX15		 Deletion Direct sequencing, PCR based assay Teimourian S et al., 2008
44 Deletion Genomic: g.7494_7497delGAGC
CDS: c.385_388delGAGC
AnimoAcid: p.Glu129SerfsX61		 Deletion Direct sequencing Teimourian S et al., 2008
45 Substitutions Genomic: g.4935G>A
CDS: c.369+1G>A
AnimoAcid: 		Substitutions Direct sequencing Teimourian S et al., 2008
46 Substitutions Genomic: g.7482G>A
CDS: c.373G>A
AnimoAcid: p.Ala125Thr		 Substitutions Direct sequencing Teimourian S et al., 2008
47 Substitutions Genomic: g.3904A>T
CDS: c.158A>T
AnimoAcid: p.Glu53Val		 Substitutions Direct sequencing, Restriction enzyme analysis Hossle JP et al., 1994
48 Duplications Genomic: g.3917dupG
CDS: c.171dupG
AnimoAcid: p.Lys58fs		 Duplications Direct sequencing, Restriction enzyme analysis Hossle JP et al., 1994
49 Deletion Genomic: g.3919delA
CDS: c.173delA
AnimoAcid: p.Lys58ArgfsX16		 Deletion Direct sequencing, PCR based assay Teimourian S et al., 2010
50 Deletion Genomic: g.4231delG
CDS: c.223delG
AnimoAcid: p.Ala75ProfsX3		 Deletion Direct sequencing, PCR based assay Teimourian S et al., 2010
51 Deletion Genomic: g.7494_7497delGAGC
CDS: c.385_388delGAGC
AnimoAcid: p.Glu129SerfsX61		 Deletion Direct sequencing, PCR based assay Teimourian S et al., 2010
52 Substitutions Genomic: g.4935G>A
CDS: c.369+1G>A
AnimoAcid: p.Leu97ArgfsX94		 Substitutions Direct sequencing, PCR based assay Teimourian S et al., 2010
53 Substitutions Genomic: g.4296G>T
CDS: c.287+1G>T
AnimoAcid: p.Gly69_Leu96del		 Substitutions Direct sequencing, PCR based assay Teimourian S et al., 2010
54 Substitutions Genomic: g.7482G>A
CDS: c.373G>A
AnimoAcid: p.Ala125Thr		 Substitutions Direct sequencing, PCR based assay Teimourian S et al., 2010
55 Deletion Genomic: g.(3875_?)_(4934_?)del
CDS: c.129-?_369+?del
AnimoAcid: 		Deletion Direct sequencing, PCR based assay Teimourian S et al., 2010
56 Substitutions Genomic: g.2947G>A
CDS: c.70G>A
AnimoAcid: p.Gly24Arg		 Substitutions Direct sequencing, PCR based assay Chang YH et al., 2010
57 Substitutions Genomic: g.4210A>G
CDS: c.204-2A>G
AnimoAcid: p.Gly69_Leu96del		 Substitutions Direct sequencing, PCR based assay Chang YH et al., 2010
58 Deletion Genomic: g.4252delC
CDS: c.244delC
AnimoAcid: p.Pro82fsX108		 Deletion Dideoxy fingerprinting, SSCP Newburger PE et al., 1994
59 Substitutions Genomic: g.4277G>A
CDS: c.269G>A
AnimoAcid: p.Arg90Gln		 Substitutions Dideoxy fingerprinting, SSCP Newburger PE et al., 1994
60 Deletion Genomic: g.4860_4866delGTGCCCG
CDS: c.295_301delGTGCCCG
AnimoAcid: p.Val99ProfsX89		 Deletion Direct sequencing Martel C et al., 2012
61 Deletion Genomic: g.4860_4866delGTGCCCG
CDS: c.295_301delGTGCCCG
AnimoAcid: p.Val99ProfsX89		 Deletion PCR based assay Sfaihi L et al., 2012