NLRP12
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.13586C>T
CDS: c.850C>T
AnimoAcid: p.Arg284X
Substitutions Direct sequencing, PCR based assay Jeru I et al., 2008
2 Insertion Genomic: g.14810_14811insT
CDS: c.2072+2_2072+3insT
AnimoAcid: p.Val635ThrfsX12
Insertion Direct sequencing, PCR based assay Jeru I et al., 2008