XIAP
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Deletion Genomic: g.25757delC
CDS: c.292delC
AnimoAcid: p.Glu99LysfsX32		 Deletion Direct sequencing Rigaud S et al., 2006
2 Substitutions Genomic: g.25817G>T
CDS: c.352G>T
AnimoAcid: p.Glu118X		 Substitutions Direct sequencing Rigaud S et al., 2006
3 Deletion Genomic: c.1301-?_1494+?del
CDS:
AnimoAcid: 		Deletion Direct sequencing Marsh RA et al., 2009
4 Deletion Genomic: c.1-?_1300+?del
CDS:
AnimoAcid: 		Deletion Direct sequencing Marsh RA et al., 2009
5 Substitutions Genomic: g.46935C>G
CDS: c.1445C>G
AnimoAcid: p.Pro482Arg		 Substitutions Direct sequencing Marsh RA et al., 2009
6 Substitutions Genomic: g.25775C>T
CDS: c.310C>T
AnimoAcid: p.Gln104X		 Substitutions Direct sequencing Marsh RA et al., 2009
7 Substitutions Genomic: g.26028G>A
CDS: c.563G>A
AnimoAcid: p.Gly188Glu		 Substitutions Direct sequencing Marsh RA et al., 2009
8 Substitutions Genomic: g.31060C>T
CDS: c.997C>T
AnimoAcid: p.Gln333X		 Substitutions Direct sequencing Marsh RA et al., 2009
9 Substitutions Genomic: g.26177C>T
CDS: c.712C>T
AnimoAcid: p.Arg238X		 Substitutions NA Zhao M et al., 2009
10 Deletion Genomic: r.1100_1300del
CDS:
AnimoAcid: 		Deletion Direct sequencing Marsh RA et al., 2010
11 Deletion Genomic: c.1-?_1099+?del
CDS: r.1_1099del
AnimoAcid: 		Deletion Direct sequencing Marsh RA et al., 2010
12 Substitutions Genomic: g.46935C>G
CDS: c.1445C>G
AnimoAcid: p.Pro482Arg		 Substitutions Direct sequencing Marsh RA et al., 2010
13 Substitutions Genomic: g.46971T>A
CDS: c.1481T>A
AnimoAcid: p.Ile494Asn		 Substitutions Direct sequencing Marsh RA et al., 2010
14 Substitutions Genomic: g.26028G>A
CDS: c.563G>A
AnimoAcid: p.Gly188Glu		 Substitutions Direct sequencing Marsh RA et al., 2010
15 Insertion Genomic: g.26333_26334insT
CDS: c.868_869insT
AnimoAcid: p.Tyr290fsX5		 Insertion Direct sequencing Marsh RA et al., 2010
16 Substitutions Genomic: g.31060C>T
CDS: c.997C>T
AnimoAcid: p.Gln333X		 Substitutions Direct sequencing Marsh RA et al., 2010
17 Substitutions Genomic: g.25775C>T
CDS: c.310C>T
AnimoAcid: p.Gln104X		 Substitutions Direct sequencing Marsh RA et al., 2010
18 Substitutions Genomic: g.32578T>C
CDS: c.1099+2T>C
AnimoAcid: 		Substitutions Direct sequencing Zhizhuo H et al., 2012
19 Substitutions Genomic: g.26177C>T
CDS: c.712C>T
AnimoAcid: p.Arg238X		 Substitutions Direct sequencing Yang X et al., 2012
20 Substitutions Genomic: g.40337C>T
CDS: c.1141C>T
AnimoAcid: p.Arg381X		 Substitutions Direct sequencing Yang X et al., 2012
21 Deletion Genomic: g.26115delG
CDS: c.650delG
AnimoAcid: p.Trp217CysfsX28		 Deletion Direct sequencing Yang X et al., 2012
22 Deletion Genomic: g.31108_31110delGAG
CDS: c.1045_1047delGAG
AnimoAcid: p.Glu349del		 Deletion Direct sequencing Yang X et al., 2012
23 Deletion Genomic: g.31084_31085delAA
CDS: c.1021_1022delAA
AnimoAcid: p.Asn341TyrfsX8		 Deletion Direct sequencing Yang X et al., 2012
24 Deletion Genomic: g.25466-?_28521+?del
CDS: c.1-?_977+?del
AnimoAcid: 		Deletion Direct sequencing Yang X et al., 2012