Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

IFNGR2

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.18719C>T CDS: c.340C>T AnimoAcid: p.Arg114Cys	Substitutions	Direct sequencing	Doffinger R et al., 2000
2	Substitutions	Genomic: g.24080C>A CDS: c.503C>A AnimoAcid: p.Thr168Asn	Substitutions	Fluorescent sequencing	Vogt G et al., 2005
3	Deletion	Genomic: g.29385_29411del CDS: c.664_690del AnimoAcid: p.Asn222_Ser230del	Deletion	Fluorescent sequencing	Vogt G et al., 2005
4	Deletion	Genomic: g.18657_18658del CDS: c.278_279del AnimoAcid: p.Glu93fs	Deletion	Direct sequencing	Dorman SE et al., 1998
5	Deletion	Genomic: g.29889delG CDS: c.791delG AnimoAcid: p.Gly264GlufsX8	Deletion	Dideoxy fingerprinting	Rosenzweig SD et al., 2004
6	Duplications	Genomic: g.18761_18766dupACAATG CDS: c.382_387dupACAATG AnimoAcid: p.Thr128_Met129dup	Duplications	Direct sequencing, PCR based assay	Vogt G et al., 2008
7	Substitutions	Genomic: g.29400G>A CDS: c.679G>A AnimoAcid: p.Gly227Arg	Substitutions	Direct sequencing	Kilic SS et al., 2012
8	Deletion	Genomic: g.12106delC CDS: c.186delC AnimoAcid: p.Tyr63ThrfsX20	Deletion	Sanger Sequencing, Exome sequencing	Kong XF et al., 2012
9	Deletion	Genomic: g.18597_18598delAA CDS: c.218_219delAA AnimoAcid: p.Lys73MetfsX22	Deletion	Direct sequencing	Kong XF et al., 2012