Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

NP

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.5177G>A CDS: c.265G>A AnimoAcid: p.Glu89Lys	Substitutions	Dideoxy fingerprinting	Williams SR et al., 1987
2	Substitutions	Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro	Substitutions	Direct sequencing	Markert ML et al., 1997
3	Substitutions	Genomic: g.5177G>A CDS: c.265G>A AnimoAcid: p.Glu89Lys	Substitutions	Direct sequencing	Markert ML et al., 1997
4	Substitutions	Genomic: g.5742G>C CDS: c.520G>C AnimoAcid: p.Ala174Pro	Substitutions	Direct sequencing	Markert ML et al., 1997
5	Substitutions	Genomic: g.5791G>T CDS: c.569G>T AnimoAcid: p.Gly190Val	Substitutions	Direct sequencing	Markert ML et al., 1997
6	Deletion	Genomic: g.5494_5496delATC CDS: c.385_387delATC AnimoAcid: p.Ile129del	Deletion	Direct sequencing	Markert ML et al., 1997
7	Substitutions	Genomic: g.5377G>A CDS: c.286-18G>A AnimoAcid:	Substitutions	Direct sequencing	Markert ML et al., 1997
8	Substitutions	Genomic: g.5124G>A CDS: c.212G>A AnimoAcid: p.Gly71Glu	Substitutions	Direct sequencing	Parvaneh N et al., 2008
9	Substitutions	Genomic: g.5697T>G CDS: c.475T>G AnimoAcid: p.Phe159Val	Substitutions	Direct sequencing	Parvaneh N et al., 2008
10	Substitutions	Genomic: g.5492A>G CDS: c.383A>G AnimoAcid: p.Asp128Gly	Substitutions	Direct sequencing, Southern blotting	Aust MR et al., 1992
11	Substitutions	Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro	Substitutions	Direct sequencing, Southern blotting	Aust MR et al., 1992
12	Substitutions	Genomic: g.5797A>G CDS: c.575A>G AnimoAcid: p.Tyr192Cys	Substitutions	Direct sequencing	Pannicke U et al., 1996
13	Deletion	Genomic: g.7083delA CDS: c.730delA AnimoAcid: p.Lys244ArgfsX17	Deletion	Direct sequencing	Pannicke U et al., 1996
14	Substitutions	Genomic: g.2988C>T CDS: c.70C>T AnimoAcid: p.Arg24X	Substitutions	Direct sequencing	Sasaki Y et al., 1998
15	Substitutions	Genomic: g.5689G>C CDS: c.467G>C AnimoAcid: p.Gly156Ala	Substitutions	Direct sequencing	Moallem HJ et al., 2002
16	Substitutions	Genomic: g.3099G>T CDS: c.181G>T AnimoAcid: p.Tyr5AlafsX27	Substitutions	Direct sequencing	Andrews LG et al., 1992
17	Substitutions	Genomic: g.3090C>T CDS: c.172C>T AnimoAcid: p.Arg58X	Substitutions	Direct sequencing, PCR based assay	Dalal I et al., 2001
18	Substitutions	Genomic: g.5198G>A CDS: c.285+1G>A AnimoAcid: p.Val61GlyfsX29	Substitutions	Direct sequencing, PCR based assay	Dalal I et al., 2001
19	Substitutions	Genomic: g.5719A>G CDS: c.497A>G AnimoAcid: p.Tyr166Cys	Substitutions	Dideoxy fingerprinting, Direct sequencing	Tsuda M et al., 2002
20	Substitutions	Genomic: g.5458G>A CDS: c.349G>A AnimoAcid: p.Ala117Thr	Substitutions	Direct sequencing	Ozkinay F et al., 2007
21	Substitutions	Genomic: g.2988C>T CDS: c.70C>T AnimoAcid: p.Arg24X	Substitutions	Direct sequencing	Grunebaum E et al., 2004
22	Substitutions	Genomic: g.3090C>T CDS: c.172C>T AnimoAcid: p.Arg58X	Substitutions	Direct sequencing	Grunebaum E et al., 2004
23	Substitutions	Genomic: g.5177G>A CDS: c.265G>A AnimoAcid: p.Glu89Lys	Substitutions	Direct sequencing	Grunebaum E et al., 2004
24	Substitutions	Genomic: g.5458G>A CDS: c.349G>A AnimoAcid: p.Ala117Thr	Substitutions	Direct sequencing	Grunebaum E et al., 2004
25	Substitutions	Genomic: g.5492A>G CDS: c.383A>G AnimoAcid: p.Asp128Gly	Substitutions	Direct sequencing	Grunebaum E et al., 2004
26	Deletion	Genomic: g.5494_5496delATC CDS: c.385_387delATC AnimoAcid: p.Ile129del	Deletion	Direct sequencing	Grunebaum E et al., 2004
27	Substitutions	Genomic: g.5689G>C CDS: c.467G>C AnimoAcid: p.Gly156Ala	Substitutions	Direct sequencing	Grunebaum E et al., 2004
28	Substitutions	Genomic: g.5742G>C CDS: c.520G>C AnimoAcid: p.Ala174Pro	Substitutions	Direct sequencing	Grunebaum E et al., 2004
29	Substitutions	Genomic: g.5791G>T CDS: c.569G>T AnimoAcid: p.Gly190Val	Substitutions	Direct sequencing	Grunebaum E et al., 2004
30	Substitutions	Genomic: g.5797A>G CDS: c.575A>G AnimoAcid: p.Tyr192Cys	Substitutions	Direct sequencing	Grunebaum E et al., 2004
31	Substitutions	Genomic: g.7053C>T CDS: c.700C>T AnimoAcid: p.Arg234X	Substitutions	Direct sequencing	Grunebaum E et al., 2004
32	Substitutions	Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro	Substitutions	Direct sequencing	Grunebaum E et al., 2004
33	Deletion	Genomic: g.7083delA CDS: c.730delA AnimoAcid: p.Lys244ArgfsX17	Deletion	Direct sequencing	Grunebaum E et al., 2004
34	Substitutions	Genomic: g.7122C>G CDS: c.769C>G AnimoAcid: p.His257Asp	Substitutions	Direct sequencing	Grunebaum E et al., 2004
35	Substitutions	Genomic: g.3099G>T CDS: c.181G>T AnimoAcid: p.Tyr5AlafsX27	Substitutions	Direct sequencing	Grunebaum E et al., 2004
36	Substitutions	Genomic: g.5198G>A CDS: c.285+1G>A AnimoAcid: p.Val61GlyfsX29	Substitutions	Direct sequencing	Grunebaum E et al., 2004
37	Substitutions	Genomic: g.5377G>A CDS: c.286-18G>A AnimoAcid:	Substitutions	Direct sequencing	Grunebaum E et al., 2004
38	Substitutions	Genomic: g.5709T>C CDS: c.487T>C AnimoAcid: p.Ser163Pro	Substitutions	Direct sequencing, PCR based assay	Al-Saud B et al., 2009
39	Substitutions	Genomic: g.5546C>T CDS: c.437C>T AnimoAcid: p.Pro146Leu	Substitutions	Direct sequencing, PCR based assay	Alangari A et al., 2009
40	Substitutions	Genomic: g.5458G>A CDS: c.349G>A AnimoAcid: p.Ala117Thr	Substitutions	Direct sequencing	Aytekin C et al., 2010
41	Substitutions	Genomic: g.5169A>G CDS: c.257A>G AnimoAcid: p.His86Arg	Substitutions	Direct sequencing	Walker PL et al., 2011
42	Substitutions	Genomic: g.3090C>T CDS: c.172C>T AnimoAcid: p.Arg58X	Substitutions	Direct sequencing	Walker PL et al., 2011
43	Substitutions	Genomic: g.5111C>T CDS: c.199C>T AnimoAcid: p.Arg67X	Substitutions	Direct sequencing	Walker PL et al., 2011
44	Substitutions	Genomic: g.5492A>G CDS: c.383A>G AnimoAcid: p.Asp128Gly	Substitutions	Direct sequencing	Walker PL et al., 2011
45	Substitutions	Genomic: g.5791G>T CDS: c.569G>T AnimoAcid: p.Gly190Val	Substitutions	Direct sequencing	Walker PL et al., 2011
46	Substitutions	Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro	Substitutions	Direct sequencing	Walker PL et al., 2011
47	Substitutions	Genomic: g.7123A>G CDS: c.770A>G AnimoAcid: p.His257Arg	Substitutions	Direct sequencing	Walker PL et al., 2011
48	Substitutions	Genomic: g.5156C>T CDS: c.244C>T AnimoAcid: p.Gln82X	Substitutions	NA	Somech R et al., 2012
49	Substitutions	Genomic: g.5111C>T CDS: c.199C>T AnimoAcid: p.Arg67X	Substitutions	NA	Madkaikar MR et al., 2011