Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

CD3G

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.5525A>T CDS: c.205A>T AnimoAcid: p.Lys69X	Substitutions	PCR based assay, Restriction enzyme analysis	Recio MJ et al., 2007
2	Substitutions	Genomic: g.81A>G CDS: c.1A>G AnimoAcid: p.Met1Val	Substitutions	Direct sequencing	Arnaiz-Villena A et al., 1992
3	Deletion	Genomic: g.5400_5416delGAAACCACTTGGTTAAG CDS: c.80_96delGAAACCACTTGGTTAAG AnimoAcid: p.Val31GlyfsX3	Deletion	Direct sequencing	Arnaiz-Villena A et al., 1992