IRAK4
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.19262C>T
CDS: c.877C>T
AnimoAcid: p.Gln293X		 Substitutions Direct sequencing, PCR based assay Medvedev AE et al., 2003
2 Deletion Genomic: g.14065_14066delAC
CDS: c.620_621delAC
AnimoAcid: p.Asn207fs		 Deletion Direct sequencing, PCR based assay Medvedev AE et al., 2003
3 Deletion Genomic: g.13969delA
CDS: c.524delA
AnimoAcid: p.Asn175Met		 Deletion Direct sequencing, PCR based assay Enders A et al., 2004
4 Insertion Genomic: g.9253_9258insA
CDS: c.1098_1103insA
AnimoAcid: p.Pro42fs		 Insertion Direct sequencing, PCR based assay Takada H et al., 2006
5 Substitutions Genomic: g.12306G>T
CDS: c.1204G>T
AnimoAcid: p.Glu402X		 Substitutions Direct sequencing, PCR based assay Cardenes M et al., 2006
6 Substitutions Genomic: g.19262C>T
CDS: c.877C>T
AnimoAcid: p.Gln293X		 Substitutions Direct sequencing Chapel H et al., 2005
7 Substitutions Genomic: g.19262C>T
CDS: c.877C>T
AnimoAcid: p.Gln293X		 Substitutions Direct sequencing Picard C et al., 2003
8 Substitutions Genomic: g.19262C>T
CDS: c.877C>T
AnimoAcid: p.Gln293X		 Substitutions Direct sequencing Davidson DJ et al., 2006
9 Substitutions Genomic: g.19295C>T
CDS: c.877C>T
AnimoAcid: p.Gln293X		 Substitutions Direct sequencing Lavine E et al., 2007
10 Substitutions Genomic: g.9202C>T
CDS: c.34C>T
AnimoAcid: p.Arg12Cys		 Substitutions Direct sequencing Hoarau C et al., 2007
11 Substitutions Genomic: g.24765G>A
CDS: c.1170G>A
AnimoAcid: p.Arg391His		 Substitutions Direct sequencing Hoarau C et al., 2007
12 Substitutions Genomic: g.18806G>T
CDS: c.831+5G>T
AnimoAcid: p.Cys240MetfsX10		 Substitutions Direct sequencing Hoarau C et al., 2007
13 Substitutions Genomic: g.19295C>T
CDS: c.877C>T
AnimoAcid: p.Gln293X		 Substitutions Direct sequencing McDonald DR et al., 2006
14 Substitutions Genomic: g.19295C>T
CDS: c.877C>T
AnimoAcid: p.Gln293X		 Substitutions Direct sequencing Andres O et al., 2013
15 Deletion Genomic: g.12343_12345delCAC
CDS: c.228_230delCAC
AnimoAcid: p.Thr77del		 Deletion Direct sequencing Andres O et al., 2013