TNFRSF13B
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions Fluorescent sequencing Castigli E et al., 2005
2 Substitutions Genomic: g.31674C>A
CDS: c.542C>A
AnimoAcid: p.Ala181Glu		 Substitutions Fluorescent sequencing Castigli E et al., 2005
3 Substitutions Genomic: g.31737G>A
CDS: c.605G>A
AnimoAcid: p.Arg202His		 Substitutions Fluorescent sequencing Castigli E et al., 2005
4 Duplications Genomic: g.23110dupA
CDS: c.204dupA
AnimoAcid: p.Leu69ThrfsX12		 Duplications Fluorescent sequencing Castigli E et al., 2005
5 Substitutions Genomic: g.23337C>A
CDS: c.431C>A
AnimoAcid: p.Ser144X		 Substitutions Fluorescent sequencing Salzer U et al., 2005
6 Deletion-Insertion Genomic: g.31713_31714delinsAA
CDS: c.581_582delinsAA
AnimoAcid: p.Ser194X		 Deletion-Insertion Fluorescent sequencing Salzer U et al., 2005
7 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions Fluorescent sequencing Salzer U et al., 2005
8 Substitutions Genomic: g.31674C>A
CDS: c.542C>A
AnimoAcid: p.Ala181Glu		 Substitutions Fluorescent sequencing Salzer U et al., 2005
9 Substitutions Genomic: g.31737G>A
CDS: c.605G>A
AnimoAcid: p.Arg202His		 Substitutions Fluorescent sequencing Salzer U et al., 2005
10 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions PCR based assay Zhang L et al., 2007
11 Substitutions Genomic: g.23337C>A
CDS: c.431C>A
AnimoAcid: p.Ser144X		 Substitutions PCR based assay Zhang L et al., 2007
12 Deletion-Insertion Genomic: g.31713_31714delinsAA
CDS: c.581_582delinsAA
AnimoAcid: p.Ser194X		 Deletion-Insertion PCR based assay Zhang L et al., 2007
13 Substitutions Genomic: g.31674C>A
CDS: c.542C>A
AnimoAcid: p.Ala181Glu		 Substitutions PCR based assay Zhang L et al., 2007
14 Substitutions Genomic: g.23121G>A
CDS: c.215G>A
AnimoAcid: p.Arg72His		 Substitutions PCR based assay Zhang L et al., 2007
15 Substitutions Genomic: g.31644T>G
CDS: c.512T>G
AnimoAcid: p.Leu171Arg		 Substitutions PCR based assay Zhang L et al., 2007
16 Substitutions Genomic: g.31647G>A
CDS: c.515G>A
AnimoAcid: p.Cys172Tyr		 Substitutions PCR based assay Zhang L et al., 2007
17 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
18 Substitutions Genomic: g.31711C>A
CDS: c.579C>A
AnimoAcid: p.Cys193X		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
19 Deletion Genomic: g.19565delG
CDS: c.121delG
AnimoAcid: p.Asp41IlefsX43		 Deletion Direct sequencing, PCR based assay Salzer U et al., 2009
20 Substitutions Genomic: g.31674C>A
CDS: c.542C>A
AnimoAcid: p.Ala181Glu		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
21 Insertion Genomic: g.31703insG
CDS: c.571insG
AnimoAcid: p.Asp191GlyfsX46		 Insertion Direct sequencing, PCR based assay Salzer U et al., 2009
22 Insertion Genomic: g.23110_23111insA
CDS: c.204_205insA
AnimoAcid: p.Leu69ThrfsX12		 Insertion Direct sequencing, PCR based assay Salzer U et al., 2009
23 Substitutions Genomic: g.31587G>A
CDS: c.455G>A
AnimoAcid: p.Gly152Glu		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
24 Substitutions Genomic: g.32396G>T
CDS: c.736G>T
AnimoAcid: p.Val246Phe		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
25 Substitutions Genomic: g.23142A>G
CDS: c.236A>G
AnimoAcid: p.Tyr79Cys		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
26 Substitutions Genomic: g.19565G>C
CDS: c.121G>C
AnimoAcid: p.Asp41His		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
27 Insertion Genomic: g.23204insT
CDS: c.298insT
AnimoAcid: p.Cys100LeufsX6		 Insertion Direct sequencing, PCR based assay Salzer U et al., 2009
28 Substitutions Genomic: g.19562T>C
CDS: c.118T>C
AnimoAcid: p.Trp40Arg		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
29 Substitutions Genomic: g.31624C>A
CDS: c.492C>A
AnimoAcid: p.Tyr164X		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
30 Substitutions Genomic: g.23166T>A
CDS: c.260T>A
AnimoAcid: p.Ile87Asn		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
31 Substitutions Genomic: g.23217G>A
CDS: c.311G>A
AnimoAcid: p.Cys104Tyr		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
32 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions Direct sequencing Berglund LJ et al., 2006
33 Substitutions Genomic: g.23351G>A
CDS: c.445G>A
AnimoAcid: p.Ala149Thr		 Substitutions Direct sequencing, PCR based assay Salzer U et al., 2009
34 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions Direct sequencing Castigli E et al., 2007
35 Substitutions Genomic: g.31674C>A
CDS: c.542C>A
AnimoAcid: p.Ala181Glu		 Substitutions Direct sequencing Castigli E et al., 2007
36 Substitutions Genomic: g.75G>T
CDS: c.61+1G>T
AnimoAcid: 		Substitutions PCR based assay Mohammadi J et al., 2009
37 Substitutions Genomic: g.19568C>A
CDS: c.124C>A
AnimoAcid: p.Pro42Thr		 Substitutions PCR based assay Mohammadi J et al., 2009
38 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions PCR based assay Mohammadi J et al., 2009
39 Substitutions Genomic: g.31647G>A
CDS: c.515G>A
AnimoAcid: p.Cys172Tyr		 Substitutions PCR based assay Mohammadi J et al., 2009
40 Substitutions Genomic: g.31674C>A
CDS: c.542C>A
AnimoAcid: p.Ala181Glu		 Substitutions Direct sequencing Dong X et al., 2010
41 Substitutions Genomic: g.23166T>A
CDS: c.260T>A
AnimoAcid: p.Ile87Asn		 Substitutions Direct sequencing Lougaris V et al., 2012
42 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions Direct sequencing Lougaris V et al., 2012
43 Insertion Genomic: g.23110_23111insA
CDS: c.204_205insA
AnimoAcid: p.Leu69ThrfsX12		 Insertion Direct sequencing Freiberger T et al., 2012
44 Substitutions Genomic: g.23216T>C
CDS: c.310T>C
AnimoAcid: p.Cys104Arg		 Substitutions Direct sequencing Freiberger T et al., 2012
45 Substitutions Genomic: g.23217G>A
CDS: c.311G>A
AnimoAcid: p.Cys104Tyr		 Substitutions Direct sequencing Freiberger T et al., 2012
46 Substitutions Genomic: g.31674C>A
CDS: c.542C>A
AnimoAcid: p.Ala181Glu		 Substitutions Direct sequencing Freiberger T et al., 2012
47 Substitutions Genomic: g.31698G>A
CDS: c.566G>A
AnimoAcid: p.Arg189Lys		 Substitutions Direct sequencing Freiberger T et al., 2012
48 Substitutions Genomic: g.31737G>A
CDS: c.605G>A
AnimoAcid: p.Arg202His		 Substitutions Direct sequencing Freiberger T et al., 2012
49 Substitutions Genomic: g.23121G>A
CDS: c.215G>A
AnimoAcid: p.Arg72His		 Substitutions Direct sequencing Freiberger T et al., 2012
50 Substitutions Genomic: g.23166T>A
CDS: c.260T>A
AnimoAcid: p.Ile87Asn		 Substitutions Direct sequencing Freiberger T et al., 2012
51 Substitutions Genomic: g.31592A>T
CDS: c.460A>T
AnimoAcid: p.Lys154X		 Substitutions Sanger sequencing, Exome sequencing Margraf RL et al., 2012