Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

TNFRSF1A

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.8295C>T CDS: c.236C>T AnimoAcid: p.Thr79Met	Substitutions	Direct sequencing	Kallinich T et al., 2004
2	Substitutions	Genomic: g.8253G>A CDS: c.194G>A AnimoAcid: p.Gly65Glu	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
3	Substitutions	Genomic: g.8256C>T CDS: c.197C>T AnimoAcid: p.Thr66Ile	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
4	Deletion	Genomic: g.8270_8272del CDS: c.211_213del AnimoAcid: p.Asp71del	Deletion	Direct sequencing, Denaturing HPLC, Restriction enzyme analysis	Aganna E et al., 2003
5	Substitutions	Genomic: g.8295C>A CDS: c.236C>A AnimoAcid: p.Thr79Lys	Substitutions	Direct sequencing, Denaturing HPLC, Restriction enzyme analysis	Aganna E et al., 2003
6	Substitutions	Genomic: g.8295C>T CDS: c.236C>T AnimoAcid: p.Thr79Met	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
7	Substitutions	Genomic: g.8300T>C CDS: c.241T>C AnimoAcid: p.Cys81Arg	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
8	Substitutions	Genomic: g.8326C>G CDS: c.267C>G AnimoAcid: p.Phe89Leu	Substitutions	Direct sequencing, Denaturing HPLC, Restriction enzyme analysis	Aganna E et al., 2003
9	Substitutions	Genomic: g.8340A>T CDS: c.281A>T AnimoAcid: p.Asn94Ile	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
10	Substitutions	Genomic: g.8354T>A CDS: c.295T>A AnimoAcid: p.Cys99Ser	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
11	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
12	Substitutions	Genomic: g.8628T>C CDS: c.349T>C AnimoAcid: p.Cys117Arg	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
13	Substitutions	Genomic: g.8239G>A CDS: c.194-14G>A AnimoAcid:	Substitutions	Direct sequencing, Denaturing HPLC	Aganna E et al., 2003
14	Substitutions	Genomic: g.8009T>C CDS: c.175T>C AnimoAcid: p.Cys59Arg	Substitutions	Direct sequencing	Rosen-Wolff A et al., 2001
15	Substitutions	Genomic: g.8295C>T CDS: c.236C>T AnimoAcid: p.Thr79Met	Substitutions	Direct sequencing, Restriction enzyme analysis	Rosen-Wolff A et al., 2001
16	Substitutions	Genomic: g.8641G>C CDS: c.362G>C AnimoAcid: p.Arg121Pro	Substitutions	Fluorescent sequencing, Restriction enzyme analysis	Aganna E et al., 2001
17	Substitutions	Genomic: g.8010G>C CDS: c.176G>C AnimoAcid: p.Cys59Ser	Substitutions	Direct sequencing, Restriction enzyme analysis	Dode C et al., 2000
18	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Direct sequencing	Haas SL et al., 2006
19	Substitutions	Genomic: g.8324T>G CDS: c.265T>G AnimoAcid: p.Phe89Val	Substitutions	Direct sequencing	Haas SL et al., 2006
20	Substitutions	Genomic: g.8328C>T CDS: c.269C>T AnimoAcid: p.Thr90Ile	Substitutions	Direct sequencing, Restriction enzyme analysis	Ida H et al., 2004
21	Substitutions	Genomic: g.8354T>C CDS: c.295T>C AnimoAcid: p.Cys99Arg	Substitutions	Fluorescent sequencing, Denaturing HPLC, Restriction enzyme analysis	Aganna E et al., 2002
22	Substitutions	Genomic: g.7985C>T CDS: c.151C>T AnimoAcid: p.His51Tyr	Substitutions	Fluorescent sequencing, Denaturing HPLC	Aksentijevich I et al., 2001
23	Substitutions	Genomic: g.8010G>C CDS: c.176G>C AnimoAcid: p.Cys59Ser	Substitutions	Fluorescent sequencing, Denaturing HPLC	Aksentijevich I et al., 2001
24	Substitutions	Genomic: g.8018T>G CDS: c.184T>G AnimoAcid: p.Cys62Gly	Substitutions	Fluorescent sequencing, Denaturing HPLC	Aksentijevich I et al., 2001
25	Substitutions	Genomic: g.8283C>T CDS: c.224C>T AnimoAcid: p.Pro75Leu	Substitutions	Fluorescent sequencing, Denaturing HPLC	Aksentijevich I et al., 2001
26	Substitutions	Genomic: g.8622T>C CDS: c.343T>C AnimoAcid: p.Ser115Pro	Substitutions	Fluorescent sequencing, Denaturing HPLC	Aksentijevich I et al., 2001
27	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2001
28	Substitutions	Genomic: g.8239G>A CDS: c.194-14G>A AnimoAcid:	Substitutions	Fluorescent sequencing	Aksentijevich I et al., 2001
29	Substitutions	Genomic: g.8009T>C CDS: c.175T>C AnimoAcid: p.Cys59Arg	Substitutions	Fluorescent sequencing, Restriction enzyme analysis	McDermott MF et al., 1999
30	Substitutions	Genomic: g.8019G>A CDS: c.185G>A AnimoAcid: p.Cys62Tyr	Substitutions	Fluorescent sequencing, Restriction enzyme analysis	McDermott MF et al., 1999
31	Substitutions	Genomic: g.8295C>T CDS: c.236C>T AnimoAcid: p.Thr79Met	Substitutions	Fluorescent sequencing, Restriction enzyme analysis	McDermott MF et al., 1999
32	Substitutions	Genomic: g.8301G>T CDS: c.242G>T AnimoAcid: p.Cys81Phe	Substitutions	Fluorescent sequencing, Restriction enzyme analysis	McDermott MF et al., 1999
33	Substitutions	Genomic: g.8628T>C CDS: c.349T>C AnimoAcid: p.Cys117Arg	Substitutions	Fluorescent sequencing, Restriction enzyme analysis	McDermott MF et al., 1999
34	Substitutions	Genomic: g.8629G>A CDS: c.350G>A AnimoAcid: p.Cys117Tyr	Substitutions	Fluorescent sequencing, Restriction enzyme analysis	McDermott MF et al., 1999
35	Substitutions	Genomic: g.8009T>C CDS: c.175T>C AnimoAcid: p.Cys59Arg	Substitutions	Fluorescent sequencing	Takagi K et al., 2007
36	Substitutions	Genomic: g.8700T>A CDS: c.421T>A AnimoAcid: p.Phe141Ile	Substitutions	Fluorescent sequencing	Nevala H et al., 2002
37	Substitutions	Genomic: g.8659G>A CDS: c.380G>A AnimoAcid: p.Cys127Tyr	Substitutions	Direct sequencing	Weyhreter H et al., 2003
38	Substitutions	Genomic: g.8310G>C CDS: c.251G>C AnimoAcid: p.Cys84Ser	Substitutions	Direct sequencing, Restriction enzyme analysis	Jadoul M et al., 2001
39	Substitutions	Genomic: g.11236T>A CDS: c.596T>A AnimoAcid: p.Ile199Asn	Substitutions	Direct sequencing	Kriegel MA et al., 2003
40	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Denaturing HPLC, PCR based assay	Ravet N et al., 2006
41	Substitutions	Genomic: g.8283C>T CDS: c.224C>T AnimoAcid: p.Pro75Leu	Substitutions	Denaturing HPLC, Direct sequencing, Restriction enzyme analysis	Dode C et al., 2002
42	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Denaturing HPLC, Direct sequencing, Restriction enzyme analysis	Dode C et al., 2002
43	Substitutions	Genomic: g.8346T>C CDS: c.287T>C AnimoAcid: p.Leu96Pro	Substitutions	Denaturing HPLC, Direct sequencing	Dode C et al., 2002
44	Substitutions	Genomic: g.7979T>C CDS: c.145T>C AnimoAcid: p.Tyr49His	Substitutions	Denaturing HPLC, Direct sequencing	Dode C et al., 2002
45	Substitutions	Genomic: g.8653G>A CDS: c.374G>A AnimoAcid: p.Cys125Tyr	Substitutions	Denaturing HPLC, Direct sequencing	Dode C et al., 2002
46	Substitutions	Genomic: g.8295C>T CDS: c.236C>T AnimoAcid: p.Thr79Met	Substitutions	Denaturing HPLC, Direct sequencing	Dode C et al., 2002
47	Substitutions	Genomic: g.8009T>C CDS: c.175T>C AnimoAcid: p.Cys59Arg	Substitutions	Denaturing HPLC, Direct sequencing	Dode C et al., 2002
48	Substitutions	Genomic: g.8274G>C CDS: c.215G>C AnimoAcid: p.Cys72Ser	Substitutions	Direct sequencing	Siebert S et al., 2005
49	Substitutions	Genomic: g.8355G>A CDS: c.296G>A AnimoAcid: p.Cys99Tyr	Substitutions	Direct sequencing	Simon A et al., 2001
50	Substitutions	Genomic: g.8259A>G CDS: c.200A>G AnimoAcid: p.Tyr67Cys	Substitutions	Direct sequencing	Simon A et al., 2001
51	Substitutions	Genomic: g.8007G>T CDS: c.173G>T AnimoAcid: p.Cys58Phe	Substitutions	Direct sequencing	Simon A et al., 2001
52	Substitutions	Genomic: g.8354G>A CDS: c.295G>A AnimoAcid: p.Cys99Ser	Substitutions	Direct sequencing	Kusuhara K et al., 2004
53	Substitutions	Genomic: g.8649G>A CDS: c.370G>A AnimoAcid: p.Val124Met	Substitutions	Direct sequencing	Rack A et al., 2006
54	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Direct sequencing	Hoffmann LA et al., 2008
55	Substitutions	Genomic: g.8010G>T CDS: c.176G>T AnimoAcid: p.Cys59Phe	Substitutions	Direct sequencing	Jesus AA et al., 2008
56	Substitutions	Genomic: g.11245T>A CDS: c.605T>A AnimoAcid: p.Val202Asp	Substitutions	Direct sequencing	Stojanov S et al., 2008
57	Substitutions	Genomic: g.8239G>A CDS: c.194-14G>A AnimoAcid:	Substitutions	Direct sequencing	Stojanov S et al., 2008
58	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Direct sequencing	Stojanov S et al., 2008
59	Substitutions	Genomic: g.8295C>T CDS: c.236C>T AnimoAcid: p.Thr79Met	Substitutions	Direct sequencing	Savage T et al., 2008
60	Substitutions	Genomic: g.8010G>A CDS: c.176G>A AnimoAcid: p.Cys59Tyr	Substitutions	Direct sequencing	Manki A et al., 2006
61	Substitutions	Genomic: g.8669C>G CDS: c.390C>G AnimoAcid: p.Asn130Lys	Substitutions	Direct sequencing, PCR based assay	Nakamura M et al., 2009
62	Substitutions	Genomic: g.12518C>G CDS: c.1080C>G AnimoAcid: p.Tyr360X	Substitutions	Direct sequencing	Kutukculer N et al., 2010
63	Deletion-Insertion	Genomic: g.8629_8630delinsCA CDS: c.350_351delinsCA AnimoAcid: p.Cys117Ser	Deletion-Insertion	Direct sequencing	Trubenbach J et al., 2010
64	Substitutions	Genomic: g.8363T>C CDS: c.304T>C AnimoAcid: p.Cys102Arg	Substitutions	Direct sequencing	Stjernberg-Salmela S et al., 2004
65	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	Direct sequencing	Cantarini L et al., 2010
66	Substitutions	Genomic: g.8354T>G CDS: c.295T>G AnimoAcid: p.Cys99Gly	Substitutions	PCR based assay, SSCP	Horiuchi T et al., 2004
67	Substitutions	Genomic: g.8328C>T CDS: c.269C>T AnimoAcid: p.Thr90Ile	Substitutions	PCR based assay, SSCP	Horiuchi T et al., 2004
68	Substitutions	Genomic: g.8641G>A CDS: c.362G>A AnimoAcid: p.Arg121Gln	Substitutions	PCR based assay, SSCP	Horiuchi T et al., 2004