NFKBIA
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.205G>T
CDS: c.95G>T
AnimoAcid: p.Ser32Ile		 Substitutions Direct sequencing Courtois G et al., 2003
2 Substitutions Genomic: g.142G>A
CDS: c.32G>A
AnimoAcid: p.Trp11X		 Substitutions Direct sequencing McDonald DR et al., 2007
3 Substitutions Genomic: g.150G>T
CDS: c.40G>T
AnimoAcid: p.Glu14X		 Substitutions Dideoxy fingerprinting, PCR based assay Lopez-Granados E et al., 2008
4 Substitutions Genomic: g.135C>T
CDS: c.25C>T
AnimoAcid: p.Gln9X		 Substitutions NA Ohnishi H et al., 2012