Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

STAT1

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.22944G>C CDS: c.958G>C AnimoAcid: p.Glu320Gln	Substitutions	Direct sequencing	Chapgier A et al., 2006
2	Substitutions	Genomic: g.30552G>T CDS: c.1389G>T AnimoAcid: p.Gln463His	Substitutions	Direct sequencing	Chapgier A et al., 2006
3	Duplications	Genomic: g.37279dupA CDS: c.1927dupA AnimoAcid: p.Thr643AsnfsX646	Duplications	Direct sequencing	Chapgier A et al., 2006
4	Deletion	Genomic: g.35282_35283delAG CDS: c.1760_1761delAG AnimoAcid: p.Glu587AlafsX18	Deletion	Direct sequencing	Dupuis S et al., 2003
5	Substitutions	Genomic: g.35321T>C CDS: c.1799T>C AnimoAcid: p.Leu600Pro	Substitutions	Direct sequencing	Dupuis S et al., 2003
6	Substitutions	Genomic: g.38421T>C CDS: c.2117T>C AnimoAcid: p.Leu706Ser	Substitutions	Direct sequencing	Dupuis S et al., 2001
7	Substitutions	Genomic: g.38390C>T CDS: c.2086C>T AnimoAcid: p.Pro696Ser	Substitutions	Direct sequencing, PCR based assay	Chapgier A et al., 2009
8	Substitutions	Genomic: g.16004G>T CDS: c.603G>T AnimoAcid: p.[Lys201Asn;Glu181GlyfsX6]	Substitutions	Direct sequencing	Kong XF et al., 2010
9	Substitutions	Genomic: g.19066C>T CDS: c.820C>T AnimoAcid: p.Arg274Trp	Substitutions	Sanger sequencing, Next-generation sequencing	van de Veerdonk FL et al., 2011
10	Substitutions	Genomic: g.19046C>T CDS: c.800C>T AnimoAcid: p.Ala267Val	Substitutions	Sanger sequencing, Next-generation sequencing	van de Veerdonk FL et al., 2011
11	Substitutions	Genomic: g.6688G>C CDS: c.372G>C AnimoAcid: p.Asp92_Gln124del	Substitutions	Direct sequencing	Vairo D et al., 2011
12	Substitutions	Genomic: g.37370A>G CDS: c.2018A>G AnimoAcid: p.Lys673Arg	Substitutions	PCR based assay	Tsumura M et al., 2012
13	Substitutions	Genomic: g.37261A>G CDS: c.1909A>G AnimoAcid: p.Lys637Glu	Substitutions	PCR based assay	Tsumura M et al., 2012
14	Substitutions	Genomic: g.27330C>T CDS: c.1154C>T AnimoAcid: p.Thr385Met	Substitutions	PCR based assay	Takezaki S et al., 2012
15	Substitutions	Genomic: g.19067G>A CDS: c.821G>A AnimoAcid: p.Arg274Glu	Substitutions	PCR based assay	Takezaki S et al., 2012
16	Substitutions	Genomic: g.19066C>T CDS: c.820C>T AnimoAcid: p.Arg274Trp	Substitutions	Sanger Sequencing	Smeekens SP et al., 2011
17	Substitutions	Genomic: g.16314A>G CDS: c.704A>G AnimoAcid: p.Glu235Gly	Substitutions	NA	Romberg N et al., 2013
18	Substitutions	Genomic: g.38406A>G CDS: c.2102A>G AnimoAcid: p.Tyr701Cys	Substitutions	PCR based assay	Hirata O et al., 2013