Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

UNG

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Deletion	Genomic: g.1632delC CDS: c.392delC AnimoAcid: p.Pro131fs	Deletion	Direct sequencing	Imai K et al., 2003
2	Deletion	Genomic: g.5264_5265delAT CDS: c.568_569delAT AnimoAcid: p.Ile190fs	Deletion	Direct sequencing	Imai K et al., 2003
3	Substitutions	Genomic: g.5953T>C CDS: c.752T>C AnimoAcid: p.Phe251Ser	Substitutions	Direct sequencing	Imai K et al., 2003
4	Deletion	Genomic: g.1667_1668delAT CDS: c.427_428delAT AnimoAcid: p.Ile143fs	Deletion	Direct sequencing	Imai K et al., 2003