AICDA
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.7539C>T
CDS: c.334C>T
AnimoAcid: p.Arg112Cys		 Substitutions SSCP, Direct sequencing Minegishi Y et al., 2000
2 Substitutions Genomic: g.7457G>A
CDS: c.252G>A
AnimoAcid: p.Trp84X		 Substitutions SSCP, Direct sequencing Minegishi Y et al., 2000
3 Substitutions Genomic: g.7540G>A
CDS: c.335G>A
AnimoAcid: p.Arg112His		 Substitutions SSCP, Direct sequencing Minegishi Y et al., 2000
4 Substitutions Genomic: g.7498T>G
CDS: c.293T>G
AnimoAcid: p.Leu98Arg		 Substitutions Fluorescent sequencing Lee WI et al., 2005
5 Substitutions Genomic: g.7464T>C
CDS: c.259T>C
AnimoAcid: p.Cys87Arg		 Substitutions Fluorescent sequencing Lee WI et al., 2005
6 Substitutions Genomic: g.7464T>C
CDS: c.259T>C
AnimoAcid: p.Cys87Arg		 Substitutions Direct sequencing Erdos M et al., 2008
7 Substitutions Genomic: g.7543T>C
CDS: c.338T>C
AnimoAcid: p.Leu113Pro		 Substitutions Direct sequencing Erdos M et al., 2008
8 Substitutions Genomic: g.7539C>T
CDS: c.334C>T
AnimoAcid: p.Arg112Cys		 Substitutions Fluorescent sequencing Lee WI et al., 2005
9 Substitutions Genomic: g.7377G>A
CDS: c.172G>A
AnimoAcid: p.Glu58Lys		 Substitutions Direct sequencing Erdos M et al., 2008
10 Deletion Genomic: r.428_457del
CDS:
AnimoAcid: 		Deletion PCR based assay Lee WI et al., 2005
11 Deletion Genomic: r.[428_543del
CDS: 428_457del]
AnimoAcid: 		Deletion PCR based assay Noguchi E et al., 2001
12 Deletion Genomic: g.5847_5865del19
CDS: c.21_39del19
AnimoAcid: p.Arg8AsnfsX18		 Deletion Direct sequencing Revy P et al., 2000
13 Substitutions Genomic: g.7443T>C
CDS: c.238T>C
AnimoAcid: p.Trp80Arg		 Substitutions Direct sequencing Revy P et al., 2000
14 Substitutions Genomic: g.5896C>T
CDS: c.70C>T
AnimoAcid: p.Arg24Trp		 Substitutions Direct sequencing Revy P et al., 2000
15 Substitutions Genomic: g.7522T>C
CDS: c.317T>C
AnimoAcid: p.Leu106Pro		 Substitutions Direct sequencing Revy P et al., 2000
16 Substitutions Genomic: g.7620A>G
CDS: c.415A>G
AnimoAcid: p.Met139Val		 Substitutions Direct sequencing Revy P et al., 2000
17 Substitutions Genomic: g.7938C>A
CDS: c.441C>A
AnimoAcid: p.Cys147X		 Substitutions Direct sequencing Revy P et al., 2000
18 Substitutions Genomic: g.7949T>C
CDS: c.452T>C
AnimoAcid: p.Phe151Ser		 Substitutions Direct sequencing Revy P et al., 2000
19 Deletion Genomic: g.7380_7388del9
CDS: c.175_183del9
AnimoAcid: p.Leu59_Phe61del		 Deletion Direct sequencing Revy P et al., 2000
20 Substitutions Genomic: g.7408G>A
CDS: c.203G>A
AnimoAcid: p.Trp68X		 Substitutions Direct sequencing Revy P et al., 2000
21 Substitutions Genomic: g.5896C>T
CDS: c.70C>T
AnimoAcid: p.Arg24Trp		 Substitutions Direct sequencing Zhu Y et al., 2003
22 Substitutions Genomic: g.7540G>A
CDS: c.335G>A
AnimoAcid: p.Arg112His		 Substitutions PCR based assay Zhu Y et al., 2003
23 Substitutions Genomic: g.7539C>T
CDS: c.334C>T
AnimoAcid: p.Arg112Cys		 Substitutions PCR based assay Zhu Y et al., 2003
24 Deletion Genomic: g.8510delC
CDS: c.544delC
AnimoAcid: p.Leu183CysfsX27		 Deletion PCR based assay Zhu Y et al., 2003
25 Substitutions Genomic: g.5857T>G
CDS: c.31T>G
AnimoAcid: p.Phe11Val		 Substitutions PCR based assay Zhu Y et al., 2003
26 Duplications Genomic: g.7431dupT
CDS: c.226dupT
AnimoAcid: p.Tyr76LeufsX42		 Duplications PCR based assay Zhu Y et al., 2003
27 Substitutions Genomic: g.7612T>A
CDS: c.407T>A
AnimoAcid: p.Ile136Lys		 Substitutions PCR based assay Zhu Y et al., 2003
28 Substitutions Genomic: g.8041G>C
CDS: c.543+1G>C
AnimoAcid: 		Substitutions PCR based assay Zhu Y et al., 2003
29 Substitutions Genomic: g.5953T>C
CDS: c.127T>C
AnimoAcid: p.Ser43Pro		 Substitutions Direct sequencing, PCR based assay Zhu Y et al., 2003
30 Deletion Genomic: g.7440_7448delACCTGGTTC
CDS: c.235_243delACCTGGTTC
AnimoAcid: p.Thr79_Phe81del		 Deletion Direct sequencing, PCR based assay Zhu Y et al., 2003
31 Substitutions Genomic: g.7620A>G
CDS: c.415A>G
AnimoAcid: p.Met139Val		 Substitutions PCR based assay, Southern blotting Quartier P et al., 2004
32 Substitutions Genomic: g.8534C>T
CDS: c.568C>T
AnimoAcid: p.Arg190X		 Substitutions Direct sequencing Kasahara Y et al., 2003
33 Substitutions Genomic: g.7371C>T
CDS: c.166C>T
AnimoAcid: p.His56Tyr		 Substitutions PCR based assay, Southern blotting Quartier P et al., 2004
34 Substitutions Genomic: g.7408G>A
CDS: c.203G>A
AnimoAcid: p.Trp68X		 Substitutions PCR based assay, Southern blotting Quartier P et al., 2004
35 Deletion Genomic: g.80_8563del8484
CDS: c.1_597del597
AnimoAcid: p.0		 Deletion PCR based assay, Southern blotting Quartier P et al., 2004
36 Substitutions Genomic: g.8019A>C
CDS: c.522A>C
AnimoAcid: p.Arg174Ser		 Substitutions PCR based assay, Southern blotting Quartier P et al., 2004
37 Substitutions Genomic: g.7464T>C
CDS: c.259T>C
AnimoAcid: p.Cys87Arg		 Substitutions PCR based assay, Southern blotting Quartier P et al., 2004
38 Substitutions Genomic: g.8508A>G
CDS: c.544-2A>G
AnimoAcid: p.Leu181_Pro182ins31		 Substitutions PCR based assay, Southern blotting Quartier P et al., 2004
39 Substitutions Genomic: g.5983G>T
CDS: c.156+1G>T
AnimoAcid: 		Substitutions Direct sequencing Fiorini C et al., 2004
40 Substitutions Genomic: g.8534C>T
CDS: c.568C>T
AnimoAcid: p.Arg190X		 Substitutions Fluorescent sequencing, PCR based assay, Restriction enzyme analysis Imai K et al., 2005
41 Substitutions Genomic: g.7569G>T
CDS: c.364G>T
AnimoAcid: p.Glu122X		 Substitutions Direct sequencing Aghamohammadi A et al., 2009
42 Substitutions Genomic: g.7603G>T
CDS: c.398G>T
AnimoAcid: p.Gly133Val		 Substitutions Direct sequencing Mahdaviani SA et al., 2012