Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

STAT3

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Deletion	Genomic: g.63456_63458delGTG CDS: c.1387_1389delGTG AnimoAcid: p.Val463del	Deletion	Direct sequencing, PCR based assay	Minegishi Y et al., 2007
2	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	Direct sequencing, PCR based assay	Minegishi Y et al., 2007
3	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	Direct sequencing, PCR based assay	Minegishi Y et al., 2007
4	Substitutions	Genomic: g.62324C>T CDS: c.1309C>T AnimoAcid: p.His437Tyr	Substitutions	Direct sequencing, PCR based assay	Minegishi Y et al., 2007
5	Substitutions	Genomic: g.58875C>T CDS: c.1166C>T AnimoAcid: p.Thr389Ile	Substitutions	Direct sequencing, PCR based assay	Minegishi Y et al., 2007
6	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	Direct sequencing	Holland SM et al., 2007
7	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	Direct sequencing	Holland SM et al., 2007
8	Substitutions	Genomic: g.58854G>T CDS: c.1145G>T AnimoAcid: p.Arg382Leu	Substitutions	Direct sequencing	Holland SM et al., 2007
9	Substitutions	Genomic: g.58859T>C CDS: c.1150T>C AnimoAcid: p.Phe384Leu	Substitutions	Direct sequencing	Holland SM et al., 2007
10	Substitutions	Genomic: g.54777C>T CDS: c.1003C>T AnimoAcid: p.Arg335Trp	Substitutions	Direct sequencing	Renner ED et al., 2008
11	Substitutions	Genomic: g.58860T>C CDS: c.1151T>C AnimoAcid: p.Phe384Ser	Substitutions	Direct sequencing	Holland SM et al., 2007
12	Substitutions	Genomic: g.59073G>A CDS: c.1268G>A AnimoAcid: p.Arg423Gln	Substitutions	Direct sequencing	Holland SM et al., 2007
13	Deletion	Genomic: g.63456_63458delGTG CDS: c.1387_1389delGTG AnimoAcid: p.Val463del	Deletion	Direct sequencing	Holland SM et al., 2007
14	Substitutions	Genomic: g.63462T>G CDS: c.1393T>G AnimoAcid: p.Ser465Ala	Substitutions	Direct sequencing	Holland SM et al., 2007
15	Substitutions	Genomic: g.65436G>A CDS: c.1832G>A AnimoAcid: p.Ser611Asn	Substitutions	Direct sequencing	Holland SM et al., 2007
16	Substitutions	Genomic: g.65465T>G CDS: c.1861T>G AnimoAcid: p.Phe621Val	Substitutions	Direct sequencing	Holland SM et al., 2007
17	Substitutions	Genomic: g.65469C>T CDS: c.1865C>T AnimoAcid: p.Thr622Ile	Substitutions	Direct sequencing	Holland SM et al., 2007
18	Substitutions	Genomic: g.66022G>A CDS: c.1909G>A AnimoAcid: p.Val637Met	Substitutions	Direct sequencing	Holland SM et al., 2007
19	Substitutions	Genomic: g.66028C>G CDS: c.1915C>G AnimoAcid: p.Pro639Ala	Substitutions	Direct sequencing	Holland SM et al., 2007
20	Deletion	Genomic: g.66043_66045delCAG CDS: c.1930_1932delCAG AnimoAcid: p.Gln644del	Deletion	Direct sequencing	Holland SM et al., 2007
21	Substitutions	Genomic: g.66052A>G CDS: c.1939A>G AnimoAcid: p.Asn647Asp	Substitutions	Direct sequencing	Holland SM et al., 2007
22	Substitutions	Genomic: g.66067G>A CDS: c.1954G>A AnimoAcid: p.Glu652Lys	Substitutions	Direct sequencing	Holland SM et al., 2007
23	Substitutions	Genomic: g.66083A>G CDS: c.1970A>G AnimoAcid: p.Tyr657Cys	Substitutions	Direct sequencing	Holland SM et al., 2007
24	Substitutions	Genomic: g.66022G>T CDS: c.1909G>T AnimoAcid: p.Val637Leu	Substitutions	Direct sequencing	Holland SM et al., 2007
25	Substitutions	Genomic: g.62324C>T CDS: c.1309C>T AnimoAcid: p.His437Tyr	Substitutions	Direct sequencing	Ma CS et al., 2008
26	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	Direct sequencing	Renner ED et al., 2007
27	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	Direct sequencing	Ma CS et al., 2008
28	Deletion	Genomic: g.54794_54796delGAC CDS: c.1020_1022delGAC AnimoAcid: p.Gly342AlafsX17	Deletion	Direct sequencing	Renner ED et al., 2008
29	Substitutions	Genomic: g.54801G>C CDS: c.1027G>C AnimoAcid: p.Val343Leu	Substitutions	Direct sequencing	Renner ED et al., 2008
30	Substitutions	Genomic: g.57025G>T CDS: c.1109+1G>T AnimoAcid:	Substitutions	Direct sequencing	Renner ED et al., 2008
31	Substitutions	Genomic: g.58718A>G CDS: c.1110-2A>G AnimoAcid:	Substitutions	Direct sequencing	Renner ED et al., 2008
32	Substitutions	Genomic: g.63476G>T CDS: c.1407G>T AnimoAcid: p.Gln469His	Substitutions	Direct sequencing	Renner ED et al., 2008
33	Substitutions	Genomic: g.65462A>G CDS: c.1858A>G AnimoAcid: p.Thr620Ala	Substitutions	Direct sequencing	Renner ED et al., 2008
34	Substitutions	Genomic: g.66020C>T CDS: c.1907C>T AnimoAcid: p.Ser636Phe	Substitutions	Direct sequencing	Renner ED et al., 2008
35	Substitutions	Genomic: g.66026A>G CDS: c.1913A>G AnimoAcid: p.Glu638Gly	Substitutions	Direct sequencing	Renner ED et al., 2008
36	Substitutions	Genomic: g.71307G>C CDS: c.2137G>C AnimoAcid: p.Val713Leu	Substitutions	Direct sequencing	Renner ED et al., 2008
37	Substitutions	Genomic: g.58861T>A CDS: c.1152T>A AnimoAcid: p.Phe384Leu	Substitutions	Direct sequencing	Renner ED et al., 2008
38	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	Direct sequencing	Renner ED et al., 2008
39	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	Direct sequencing	Renner ED et al., 2008
40	Substitutions	Genomic: g.66022G>A CDS: c.1909G>A AnimoAcid: p.Val637Met	Substitutions	Direct sequencing	Renner ED et al., 2008
41	Deletion	Genomic: g.66182_66211del30 CDS: c.2069_2098del30 AnimoAcid: p.Glu690_Pro699del	Deletion	Direct sequencing	Renner ED et al., 2008
42	Substitutions	Genomic: g.54768C>T CDS: c.994C>T AnimoAcid: p.His332Tyr	Substitutions	Restriction enzyme analysis	Jiao H et al., 2008
43	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	Direct sequencing, PCR based assay	Jiao H et al., 2008
44	Deletion	Genomic: g.63456_63458delGTG CDS: c.1387_1389delGTG AnimoAcid: p.Val463del	Deletion	Direct sequencing, PCR based assay	Jiao H et al., 2008
45	Substitutions	Genomic: g.66022G>A CDS: c.1909G>A AnimoAcid: p.Val637Met	Substitutions	Direct sequencing, PCR based assay	Jiao H et al., 2008
46	Substitutions	Genomic: g.59039A>T CDS: c.1234A>T AnimoAcid: p.Thr412Ser	Substitutions	Direct sequencing	Powers AE et al., 2009
47	Substitutions	Genomic: g.63776A>G CDS: c.1591A>G AnimoAcid: p.Lys531Glu	Substitutions	Direct sequencing	Kim HJ et al., 2009
48	Substitutions	Genomic: g.54799G>A CDS: c.1025G>A AnimoAcid: p.Gly342Asp	Substitutions	Direct sequencing, PCR based assay	Papanastasiou AD et al., 2010
49	Substitutions	Genomic: g.58847A>C CDS: c.1140-2A>C AnimoAcid:	Substitutions	Direct sequencing	Anolik R et al., 2009
50	Substitutions	Genomic: g.63475A>G CDS: c.1406A>G AnimoAcid: p.Gln469Arg	Substitutions	Direct sequencing	Lee WI et al., 2010
51	Substitutions	Genomic: g.62325A>C CDS: c.1310A>C AnimoAcid: p.His437Pro	Substitutions	Direct sequencing	Xie L et al., 2010
52	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	Direct sequencing	Kumanovics A et al., 2010
53	Substitutions	Genomic: g.66083A>C CDS: c.1970A>C AnimoAcid: p.Tyr657Ser	Substitutions	Direct sequencing	Liu JY et al., 2010
54	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	Direct sequencing, PCR based assay	Lee WI et al., 2011
55	Substitutions	Genomic: g.63475A>G CDS: c.1406A>G AnimoAcid: p.Gln469Arg	Substitutions	Direct sequencing, PCR based assay	Lee WI et al., 2011
56	Substitutions	Genomic: g.41826C>T CDS: c.172C>T AnimoAcid: p.His58Tyr	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
57	Duplications	Genomic: g.54756_54764dup CDS: c.982_990dup AnimoAcid: p.Cys328_Pro330dup	Duplications	Direct sequencing, PCR based assay	Woellner C et al., 2010
58	Substitutions	Genomic: g.54799G>A CDS: c.1025G>A AnimoAcid: p.Gly342Asp	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
59	Substitutions	Genomic: g.58718A>G CDS: c.1110-2A>G AnimoAcid: p.Asp371_Gly380del	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
60	Substitutions	Genomic: g.58719G>T CDS: c.1110-1G>T AnimoAcid: p.Asp371_Gly380del	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
61	Substitutions	Genomic: g.58750G>T CDS: c.1139+1G>T AnimoAcid: p.Asp371_Gly380del	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
62	Insertion	Genomic: g.58751insT CDS: c.1139+2insT AnimoAcid: p.Asp371_Gly380del	Insertion	Direct sequencing, PCR based assay	Woellner C et al., 2010
63	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
64	Substitutions	Genomic: g.58854G>T CDS: c.1145G>T AnimoAcid: p.Arg382Leu	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
65	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
66	Substitutions	Genomic: g.58859T>C CDS: c.1150T>C AnimoAcid: p.Phe384Leu	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
67	Substitutions	Genomic: g.58875C>T CDS: c.1166C>T AnimoAcid: p.Thr389Ile	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
68	Substitutions	Genomic: g.59073G>A CDS: c.1268G>A AnimoAcid: p.Arg423Gln	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
69	Deletion	Genomic: g.63456_63458del CDS: c.1387_1389del AnimoAcid: p.Val463del	Deletion	Direct sequencing, PCR based assay	Woellner C et al., 2010
70	Substitutions	Genomic: g.63465A>G CDS: c.1396A>G AnimoAcid: p.Asn466Asp	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
71	Substitutions	Genomic: g.63466A>G CDS: c.1397A>G AnimoAcid: p.Asn466Ser	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
72	Substitutions	Genomic: g.63466A>C CDS: c.1397A>C AnimoAcid: p.Asn466Thr	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
73	Substitutions	Genomic: g.63467C>G CDS: c.1398C>G AnimoAcid: p.Asn466Lys	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
74	Substitutions	Genomic: g.63476G>T CDS: c.1407G>T AnimoAcid: p.Gln469His	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
75	Substitutions	Genomic: g.65375A>G CDS: c.1771A>G AnimoAcid: p.Lys591Glu	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
76	Substitutions	Genomic: g.65469C>T CDS: c.1865C>T AnimoAcid: p.Thr622Ile	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
77	Substitutions	Genomic: g.66020C>A CDS: c.1907C>A AnimoAcid: p.Ser636Tyr	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
78	Substitutions	Genomic: g.66022G>A CDS: c.1909G>A AnimoAcid: p.Val637Met	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
79	Substitutions	Genomic: g.66023T>C CDS: c.1910T>C AnimoAcid: p.Val637Ala	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
80	Substitutions	Genomic: g.66028T>C CDS: c.1915T>C AnimoAcid: p.Pro639Ser	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
81	Substitutions	Genomic: g.66083A>G CDS: c.1970A>G AnimoAcid: p.Tyr657Cys	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
82	Substitutions	Genomic: g.66116C>T CDS: c.2003C>T AnimoAcid: p.Ser668Phe	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
83	Substitutions	Genomic: g.71294C>G CDS: c.2124C>G AnimoAcid: p.Thr708Ser	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
84	Substitutions	Genomic: g.71299T>C CDS: c.2129T>C AnimoAcid: p.Phe710Cys	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
85	Substitutions	Genomic: g.71311C>G CDS: c.2141C>G AnimoAcid: p.Thr714Ala	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
86	Substitutions	Genomic: g.71315G>A CDS: c.2144+1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Woellner C et al., 2010
87	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	PCR based assay	Kumanovics A et al., 2010
88	Substitutions	Genomic: g.66026A>G CDS: c.1913A>G AnimoAcid: p.Glu638Gly	Substitutions	PCR based assay	Kumanovics A et al., 2010
89	Substitutions	Genomic: g.65467C>G CDS: c.1863C>G AnimoAcid: p.Phe621Leu	Substitutions	PCR based assay	Kumanovics A et al., 2010
90	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	PCR based assay	Kumanovics A et al., 2010
91	Substitutions	Genomic: g.58853C>G CDS: c.1144C>G AnimoAcid: p.Arg382Gly	Substitutions	PCR based assay	Kumanovics A et al., 2010
92	Deletion	Genomic: g.66182_66211del CDS: c.2069_2098del AnimoAcid: p.Glu690_Pro699del	Deletion	PCR based assay	Kumanovics A et al., 2010
93	Substitutions	Genomic: g.66022G>A CDS: c.1909G>A AnimoAcid: p.Val637Met	Substitutions	PCR based assay	Giacomelli M et al., 2011
94	Substitutions	Genomic: g.66092T>G CDS: c.1979T>G AnimoAcid: p.Met660Arg	Substitutions	PCR based assay	Giacomelli M et al., 2011
95	Substitutions	Genomic: g.54799G>A CDS: c.1025G>A AnimoAcid: p.Gly342Asp	Substitutions	PCR based assay	Giacomelli M et al., 2011
96	Substitutions	Genomic: g.62309G>C CDS: c.1294G>C AnimoAcid: p.Val432Leu	Substitutions	PCR based assay	Giacomelli M et al., 2011
97	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	PCR based assay	Giacomelli M et al., 2011
98	Deletion	Genomic: g.63456_63458delGTG CDS: c.1387_1389delGTG AnimoAcid: p.Val463del	Deletion	PCR based assay	Giacomelli M et al., 2011
99	Substitutions	Genomic: g.65463C>G CDS: c.1859C>G AnimoAcid: p.Thr620Ser	Substitutions	PCR based assay	Luying Z et al., 2013
100	Substitutions	Genomic: g.66022G>A CDS: c.1909G>A AnimoAcid: p.Val637Met	Substitutions	PCR based assay	Luying Z et al., 2013
101	Substitutions	Genomic: g.58854G>A CDS: c.1145G>A AnimoAcid: p.Arg382Gln	Substitutions	PCR based assay	Luying Z et al., 2013
102	Substitutions	Genomic: g.65429A>G CDS: c.1825A>G AnimoAcid: p.Arg609Gly	Substitutions	PCR based assay	Luying Z et al., 2013
103	Substitutions	Genomic: g.58853C>T CDS: c.1144C>T AnimoAcid: p.Arg382Trp	Substitutions	PCR based assay	Luying Z et al., 2013