Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

CD3D

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.2298C>T CDS: c.202C>T AnimoAcid: p.Arg68X	Substitutions	Direct sequencing	Dadi HK et al., 2003
2	Substitutions	Genomic: g.2298C>T CDS: c.202C>T AnimoAcid: p.Arg68X	Substitutions	Direct sequencing	de Saint Basile G et al., 2004
3	Substitutions	Genomic: g.2843C>A CDS: c.279C>A AnimoAcid: p.Cys93X	Substitutions	Direct sequencing	de Saint Basile G et al., 2004
4	Substitutions	Genomic: g.2837A>G CDS: c.275-2A>G AnimoAcid:	Substitutions	Direct sequencing	Takada H et al., 2005
5	Substitutions	Genomic: g.2375G>A CDS: c.274+5G>A AnimoAcid:	Substitutions	Direct sequencing	Gil J et al., 2011
6	Substitutions	Genomic: g.2298C>T CDS: c.202C>T AnimoAcid: p.Arg68X	Substitutions	Direct sequencing, PCR based assay	Yu GP et al., 2011