CD3G
Primary Info
Mutation
Mouse studies
DNA sequencing


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