Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

GFI1

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.10724A>G CDS: c.1145A>G AnimoAcid: p.Asn382Ser	Substitutions	Direct sequencing, PCR based assay	Person RE et al., 2003
2	Substitutions	Genomic: g.10787A>G CDS: c.1208A>G AnimoAcid: p.Lys403Arg	Substitutions	Direct sequencing, PCR based assay	Person RE et al., 2003
3	Substitutions	Genomic: g.10813C>T CDS: c.1234C>T AnimoAcid: p.Arg412X	Substitutions	Direct sequencing	Xia J et al., 2009
4	Substitutions	Genomic: g.10777C>T CDS: c.1198C>T AnimoAcid: p.Leu400Phe	Substitutions	Direct sequencing	Xia J et al., 2009
5	Substitutions	Genomic: g.10724A>G CDS: c.1145A>G AnimoAcid: p.Asn382Ser	Substitutions	Direct sequencing	Xia J et al., 2009
6	Substitutions	Genomic: g.5809C>G CDS: c.319C>G AnimoAcid: p.Pro107Ala	Substitutions	Direct sequencing	Xia J et al., 2009
7	Substitutions	Genomic: g.3496G>A CDS: c.107G>A AnimoAcid: p.Ser36Asn	Substitutions	Direct sequencing	Hochberg JC et al., 2008
8	Substitutions	Genomic: g.3376A>C CDS: c.-14A>C AnimoAcid:	Substitutions	Direct sequencing	Hochberg JC et al., 2008