Database TNFRSF13Bbase
Version 1.0
File tnfrsf13bpub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/TNFRSF13Bbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF153.html
Gene TNFRSF13B
Disease TACI deficiency
OMIM 604907
Sequence IDRefSeq:D0105; IDRefSeq:C0105; UniProt:O14836
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID P42T(1),=; standard; MUTATION; EC
Accession T0041
Systematic name Allele 1: g.20568C>A, c.124C>A, r.124c>a, p.Pro42Thr
Original code P2
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change in the EC domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19629655
RefAuthors Mohammadi, J., Liu, C., Aghamohammadi, A., Bergbreiter,
RefAuthors A., Du, L., Lu, J., Rezaei, N., Amirzargar, A. A., Moin,
RefAuthors M., Salzer, U., Pan-Hammarstrom, Q., Hammarstrom, L.
RefTitle Novel mutations in TACI (TNFRSF13B) causing common
RefTitle variable immunodeficiency.
RefLoc J Clin Immunol:777-785 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 20568
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 137
Feature /codon: cct -> act; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 42
Feature /change: P -> T
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Chronic otitis, sinusitis, pneumonia, liver granulomas,
Symptoms thrombocytopenia, chronic diarrhea, splenomegaly,
Symptoms clubbing of finger, bronchiectasis
Ethnic origin Caucasoid; Iran
//
ID @S68X80(1a),C104R(6a); standard; MUTATION; MUTATION; EC,EC
Accession T0025
Systematic name Allele 1: g.24109_24110insA, c.203_204insA, r.203_204insa,
Systematic name p.Leu69fsX12
Systematic name Allele 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code C12
Description Allele 1: a frame shift insertion mutation in the exon 3
Description leading to a premature stop codon
Description Allele 2: an point mutation in the exon 3 leading to an
Description amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0105: 24110
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0105: 217
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 68
Feature /change: S -> STQLPQGARQ VLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Symptoms CVID
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0026 father
Relative TNFRSF13Bbase; T0027 mother
Relative TNFRSF13Bbase; T0028 sister
Relative TNFRSF13Bbase; T0029 sister
Relative TNFRSF13Bbase; T0030 son
Relative TNFRSF13Bbase; T0031 daughter
Relative TNFRSF13Bbase; T0032 son
//
ID @L69X80(1c),=; standard; MUTATION; MUTATION; EC,
Accession T0027
Systematic name Allele 1: g.24110dupA, c.204dupA, r.204dupa,
Systematic name p.Leu69fsX12
Description Allele 1: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0105: 24111
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0105: 218
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 69
Feature /change: L -> TQLPQGARQV LX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0025; daughter
Relative TNFRSF13Bbase; T0026; husband
Relative TNFRSF13Bbase; T0028; daughter
Relative TNFRSF13Bbase; T0029; daughter
Relative TNFRSF13Bbase; T0030; grandson
Relative TNFRSF13Bbase; T0031; granddaughter
Relative TNFRSF13Bbase; T0032; grandson
//
ID @L69X80(1g),=; standard; MUTATION; MUTATION; EC,
Accession T0031
Systematic name Allele 1: g.24110dupA, c.204dupA, r.204dupa,
Systematic name p.Leu69fsX12
Original code C12b
Description Allele 1: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0105: 24111
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0105: 218
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 69
Feature /change: L -> TQLPQGARQV LX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0025; mother
Relative TNFRSF13Bbase; T0026; grandfather
Relative TNFRSF13Bbase; T0027; grandmother
Relative TNFRSF13Bbase; T0028; aunt
Relative TNFRSF13Bbase; T0029; aunt
Relative TNFRSF13Bbase; T0030; brother
Relative TNFRSF13Bbase; T0032; brother
//
ID @L69X80(1h),=; standard; MUTATION; MUTATION; EC,
Accession T0032
Systematic name Allele 1: g.24110dupA, c.204dupA, r.204dupa,
Systematic name p.Leu69fsX12
Original code C12c
Description Allele 1: a frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0105: 24111
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0105: 218
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 69
Feature /change: L -> TQLPQGARQV LX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0025; mother
Relative TNFRSF13Bbase; T0026; grandfather
Relative TNFRSF13Bbase; T0027; grandmother
Relative TNFRSF13Bbase; T0028; aunt
Relative TNFRSF13Bbase; T0029; aunt
Relative TNFRSF13Bbase; T0030; brother
Relative TNFRSF13Bbase; T0031; sister
//
ID C104R(1a),C104R(1a); standard; MUTATION; EC,EC
Accession T0003
Systematic name Allele 1 and 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code B.II.2
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Symptoms CVID, Dysgammaglobulinemia, autoimmune thyreoiditis,
Symptoms recurrent infections of the respiratory and
Symptoms gastrointestinal tracts, splenomegaly, EBV-associated
Symptoms disease
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0004 brother
Relative TNFRSF13Bbase; T0005 father
Relative TNFRSF13Bbase; T0006 mother
//
ID C104R(1b),=; standard; MUTATION; EC,
Accession T0004
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code B.II.1
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Dysgammaglobulinemia
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0003; brother
Relative TNFRSF13Bbase; T0005; father
Relative TNFRSF13Bbase; T0006; mother
//
ID C104R(1c),=; standard; MUTATION; EC,
Accession T0005
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code B.I.1
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Dysgammaglobulinemia
Sex XY
Family history Not known
Relative TNFRSF13Bbase; T0003; son
Relative TNFRSF13Bbase; T0004; son
Relative TNFRSF13Bbase; T0006; wife
//
ID C104R(1d),=; standard; MUTATION; EC,
Accession T0006
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code B.I.2
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Dysgammaglobulinemia
Sex XX
Family history Not known
Relative TNFRSF13Bbase; T0003; son
Relative TNFRSF13Bbase; T0004; son
Relative TNFRSF13Bbase; T0005; husband
//
ID C104R(2),=; standard; MUTATION; EC,
Accession T0010
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code S1
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID, autoimmune thyreoiditis, nodular lymphatic
Symptoms hyperplasia
Sex XX
Family history De novo
//
ID C104R(3),=; standard; MUTATION; EC,
Accession T0011
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code S2
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID, pernicious anemia, tonsillar hyperplasia
Sex XX
Family history De novo
//
ID C104R(4a),=; standard; MUTATION; EC,
Accession T0019
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code A11
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XY
Relative TNFRSF13Bbase; T0020; grandmother
Relative TNFRSF13Bbase; T0021; mother
Relative TNFRSF13Bbase; T0022; sister
//
ID C104R(4b),=; standard; MUTATION; EC,
Accession T0020
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XX
Relative TNFRSF13Bbase; T0019; grandson
Relative TNFRSF13Bbase; T0021; daughter
Relative TNFRSF13Bbase; T0022; granddaughter
//
ID C104R(4c),=; standard; MUTATION; EC,
Accession T0021
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XX
Relative TNFRSF13Bbase; T0019; son
Relative TNFRSF13Bbase; T0020; mother
Relative TNFRSF13Bbase; T0022; daughter
//
ID C104R(4d),=; standard; MUTATION; EC,
Accession T0022
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XX
Relative TNFRSF13Bbase; T0019; brother
Relative TNFRSF13Bbase; T0020; grandmother
Relative TNFRSF13Bbase; T0021; mother
//
ID C104R(5a),=; standard; MUTATION; EC,
Accession T0023
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code C5
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XX
Relative TNFRSF13Bbase; T0024; son
//
ID C104R(5b),=; standard; MUTATION; EC,
Accession T0024
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0023; mother
//
ID C104R(6b),=; standard; MUTATION; EC,
Accession T0026
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0025; daughter
Relative TNFRSF13Bbase; T0027; wife
Relative TNFRSF13Bbase; T0028; daughter
Relative TNFRSF13Bbase; T0029; daughter
Relative TNFRSF13Bbase; T0030; grandson
Relative TNFRSF13Bbase; T0031; granddaughter
Relative TNFRSF13Bbase; T0032; grandson
//
ID C104R(6d),=; standard; MUTATION; EC,
Accession T0028
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0025; sister
Relative TNFRSF13Bbase; T0026; father
Relative TNFRSF13Bbase; T0027; mother
Relative TNFRSF13Bbase; T0029; sister
Relative TNFRSF13Bbase; T0030; nephew
Relative TNFRSF13Bbase; T0031; niece
Relative TNFRSF13Bbase; T0032; nephew
//
ID C104R(6e),=; standard; MUTATION; EC,
Accession T0029
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms IgAD
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0025; sister
Relative TNFRSF13Bbase; T0026; father
Relative TNFRSF13Bbase; T0027; mother
Relative TNFRSF13Bbase; T0028; sister
Relative TNFRSF13Bbase; T0030; nephew
Relative TNFRSF13Bbase; T0031; niece
Relative TNFRSF13Bbase; T0032; nephew
//
ID C104R(6f),=; standard; MUTATION; EC,
Accession T0030
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code C12a
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Aug-2005 (Rel. 1, Created)
Date 08-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0025; mother
Relative TNFRSF13Bbase; T0026; grandfather
Relative TNFRSF13Bbase; T0027; grandmother
Relative TNFRSF13Bbase; T0028; aunt
Relative TNFRSF13Bbase; T0029; aunt
Relative TNFRSF13Bbase; T0031; sister
Relative TNFRSF13Bbase; T0032; brother
//
ID C104R(7),=; standard; MUTATION; EC
Accession T0036
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 02-Jun-2006 (Rel. 1, Created)
Date 02-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16630947
RefAuthors Berglund, L. J., Jones, G. J., Murali, R., Fulcher, D. A.
RefTitle TACI mutation with invasive polyclonal CD8+ T-cell
RefTitle lymphoproliferation in a patient with common variable
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol 117:870-877 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID, recurrent bronchitis, pneumonia, and skin infections
Symptoms in association with panhypogammaglobulinemia, anorexia,
Symptoms weight loss, fever, night sweats, hepatosplenomegaly,
Symptoms lymphadenopathy with early bronchiectasis, pancytopenia, a
Symptoms marked infiltrative polyclonal CD8+ T-cell
Symptoms lymphoproliferative disorder
Sex XY
//
ID C104R(8a),=; standard; MUTATION; EC,
Accession T0037
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code III:2
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19210517
RefAuthors Poodt, A. E., Driessen, G. J., de Klein, A., van Dongen,
RefAuthors J. J., van der Burg, M., de Vries, E.
RefTitle TACI mutations and disease susceptibility in patients with
RefTitle common variable immunodeficiency.
RefLoc Clin Exp Immunol:35-39 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent respiratory infections and low IgG level
Age 1
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0039; mother
Relative TNFRSF13Bbase; T0038; cousin
//
ID C104R(8b),=; standard; MUTATION; EC,
Accession T0038
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code III:3
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19210517
RefAuthors Poodt, A. E., Driessen, G. J., de Klein, A., van Dongen,
RefAuthors J. J., van der Burg, M., de Vries, E.
RefTitle TACI mutations and disease susceptibility in patients with
RefTitle common variable immunodeficiency.
RefLoc Clin Exp Immunol:35-39 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent respiratory infections and low Ig levels
Age 2
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0037; cousin
Relative TNFRSF13Bbase; T0040; mother
//
ID C104R(8c),=; standard; MUTATION; EC,
Accession T0039
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code II:2
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19210517
RefAuthors Poodt, A. E., Driessen, G. J., de Klein, A., van Dongen,
RefAuthors J. J., van der Burg, M., de Vries, E.
RefTitle TACI mutations and disease susceptibility in patients with
RefTitle common variable immunodeficiency.
RefLoc Clin Exp Immunol:35-39 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent respiratory infections and low Ig levels
Age 41
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0037; daughter
Relative TNFRSF13Bbase; T0040; sister
Comment Father has the same heterozygous mutation but no symptoms
Comment seen.
//
ID C104R(8d),=; standard; MUTATION; EC,
Accession T0040
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code II:4
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19210517
RefAuthors Poodt, A. E., Driessen, G. J., de Klein, A., van Dongen,
RefAuthors J. J., van der Burg, M., de Vries, E.
RefTitle TACI mutations and disease susceptibility in patients with
RefTitle common variable immunodeficiency.
RefLoc Clin Exp Immunol:35-39 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent respiratory infections and low Ig levels
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0039; sister
Relative TNFRSF13Bbase; T0038; son
Comment Father has the same heterozygous mutation but no symptoms
Comment seen.
//
ID C104R(9),=; standard; MUTATION; EC,
Accession T0042
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code P3
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19629655
RefAuthors Mohammadi, J., Liu, C., Aghamohammadi, A., Bergbreiter,
RefAuthors A., Du, L., Lu, J., Rezaei, N., Amirzargar, A. A., Moin,
RefAuthors M., Salzer, U., Pan-Hammarstrom, Q., Hammarstrom, L.
RefTitle Novel mutations in TACI (TNFRSF13B) causing common
RefTitle variable immunodeficiency.
RefLoc J Clin Immunol:777-785 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Otitis media, chronic diarrhea, pneumonia, skin infections
Ethnic origin Caucasoid; Iran
//
ID C104R(10),=; standard; MUTATION; EC,
Accession T0047
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code P.2
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent upper respiratory tract infection,
Symptoms increased T cells
Age 4.7
Sex XY
Ethnic origin The Netherlands
//
ID C104R(11),=; standard; MUTATION; EC,
Accession T0048
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code P.3
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent upper respiratory tract infection,
Symptoms sepsis after omphalitis, bronchitis, increased T cells
Age 4.7
Sex XX
Ethnic origin The Netherlands
//
ID C104R(12),=; standard; MUTATION; EC,
Accession T0051
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code P.5
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent upper respiratory tract infection, meningitis,
Symptoms pneumonia, gastrointestinal infections
Age 5.2
Sex XY
Ethnic origin The Netherlands
//
ID C104R(13),=; standard; MUTATION; EC,
Accession T0053
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code P.7
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent upper respiratory tract infection, bronchitis
Age 3.2
Sex XY
Ethnic origin The Netherlands
Relative TNFRSF13Bbase; T0052; brother
//
ID C104R/A181E(1),=; standard; MUTATION; EC/TM,
Accession T0059
Systematic name Allele 1: g.[24216T>C;32674C>A], c.[310T>C;542C>A],
Systematic name r.[310u>c;542c>a], p.[Cys104Arg;Ala181Glu]
Original code P.9
Description Allele 1: A point mutations in the exon 3 leading to
Description an amino acid change in the EC domain and a point
Description mutation in the exon 4 leading to an amino acid
Description change in the TM domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: no mutation
Feature dna; 8
Feature /rnalink: 10
Feature /name: no mutation
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: no mutation
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: no mutation
Feature aa; 11
Feature /rnalink: 9
Feature /name: no mutation
Feature aa; 12
Feature /rnalink: 10
Feature /name: no mutation
Symptoms Persistent cytomegalovirus and norovirus infection, T cell
Symptoms lymphopenia, low counts of B cells
Age 10.7
Sex XX
Ethnic origin The Netherlands
//
ID C104R(14),=; standard; MUTATION; EC,
Accession T0060
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code A.I.1
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms CVID
Age 63
Sex XY
Ethnic origin Spain
Family history Not known
Comment A.II.1 and A.II.2 are two related individuals
Comment carrying heterozygous mutation but did not
Comment report any clinical features and CVID.
//
ID C104R(15),=; standard; MUTATION; EC,
Accession T0061
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code B.I.1
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms CVID, vasculitis, splenomegaly
Age 57
Sex XY
Ethnic origin Spain
Comment B.II.2 is a related individuals carrying heterozygous
Comment mutation but did not report any clinical
Comment features and CVID.
//
ID C104R(16a),C104R(16a); standard; MUTATION; EC,EC
Accession T0062
Systematic name Allele 1 and 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code C.II.1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
Symptoms CVID
Age 54
Sex XX
Ethnic origin Spain
Relative TNFRSF13Bbase; T0063 sister
Relative TNFRSF13Bbase; T0064 not known
Comment C.III.2, C.III.3 and C.III.4 are related individuals
Comment carrying heterozygous mutation but did not report any
Comment clinical features and CVID
//
ID C104R(16b),C104R(16b); standard; MUTATION; EC,EC
Accession T0063
Systematic name Allele 1 and 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code C.II.2
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
Symptoms CVID, pernicious anemia
Age 67
Sex XX
Ethnic origin Spain
Relative TNFRSF13Bbase; T0062 sister
Relative TNFRSF13Bbase; T0064 not known
Comment C.III.2, C.III.3 and C.III.4 are related individuals
Comment carrying heterozygous mutation but did not report any
Comment clinical features and CVID
//
ID C104R(16c),=; standard; MUTATION; EC,
Accession T0064
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code C.III.1
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Hashimoto thyroiditis
Age 24
Sex XX
Ethnic origin Spain
Relative TNFRSF13Bbase; T0062; not known
Relative TNFRSF13Bbase; T0063; not known
Comment C.III.2, C.III.3 and C.III.4 are related individuals
Comment carrying heterozygous mutation but did not report any
Comment clinical features and CVID
//
ID C104R(17),C104R(17); standard; MUTATION; EC,EC
Accession T0065
Systematic name Allele 1 and 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code D.II.1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
Symptoms CVID
Age 45
Sex XX
Ethnic origin Spain
Comment D.I.1, D.I.2, D.III.1 and D.III.2 are heterozygous
Comment relatives and D.II.2 is homozygous relative but they did
Comment not report any clinical features and CVID
//
ID C104R(18a),=; standard; MUTATION; EC,
Accession T0066
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code E.I.1
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Exitus
Age 59
Sex XY
Ethnic origin Spain
Relative TNFRSF13Bbase; T0067; unknown
Comment E.I.2 and E.II.1 are heterozygous relatives and E.II.2 is
Comment homozygous relative but did not report any clinical
Comment features and CVID.
//
ID C104R(19),C104R(19); standard; MUTATION; EC,EC
Accession T0067
Systematic name Allele 1 and 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code E.II.3
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
Symptoms CVID
Age 31
Sex XY
Ethnic origin Spain
Relative TNFRSF13Bbase; T0066 unknown
Comment E.I.2 and E.II.1 are heterozygous relatives and E.II.2 is
Comment homozygous relative but did not report any clinical
Comment features and CVID.
//
ID C104R(20),A181E(16); standard; MUTATION; EC,TM
Accession T0068
Systematic name Allele 1: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Systematic name Allele 2: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code G.III.1
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change in the EC domain
Description Allele 2: A point mutation in the exon 4 leading to an
Description amino acid change in the TM domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
Symptoms CVID
Age 17
Sex XY
Ethnic origin Spain
Comment G.I.1 and G.I.2 are heterozygous to C104R; G.II.2, G.II.3
Comment and G.II.4 are heterozygous to A181E; G.III.2 has
Comment C104R/A181E mutation but clinical features and CVID were
Comment not reported in any of them
//
ID C104R(21a),C104R(21a); standard; MUTATION; EC,EC
Accession T0069
Systematic name Allele 1 and 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code M.II.1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
Symptoms CVID, Crohn
Age 32
Sex XX
Ethnic origin Spain
Relative TNFRSF13Bbase; T0070 sister
Comment M.I.1, M.I.2, M.III.1, M.III.2 and M.III.3 are heterozygous
Comment carrier and M.II.3 is homozygous carrier but they did not
Comment report any clinical features and CVID.
//
ID C104R(21b),C104R(21b); standard; MUTATION; EC,EC
Accession T0070
Systematic name Allele 1 and 2: g.24216T>C, c.310T>C, r.310u>c, p.Cys104Arg
Original code M.II.2
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19779048
RefAuthors Martinez-Pomar, N., Detkova, D., Arostegui, J. I.,
RefAuthors Alvarez, A., Soler-Palacin, P., Vidaller, A., Espanol, T.,
RefAuthors Sampalo, A., de Gracia, J., Hernandez, M., Yague, J.,
RefAuthors Matamoros, N.
RefTitle Role of TNFRSF13B variants in patients with common
RefTitle variable immunodeficiency.
RefLoc Blood:2846-2848 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24216
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 323
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 104
Feature /change: C -> R
Feature /domain: EC
Symptoms CVID, Splenomegaly
Age 30
Sex XX
Ethnic origin Spain
Relative TNFRSF13Bbase; T0069 sister
Comment M.I.1, M.I.2, M.III.1, M.III.2 and M.III.3 are heterozygous
Comment carrier and M.II.3 is homozygous carrier but they did not
Comment report any clinical features and CVID.
//
ID S144X(1a),S144X(1a); standard; MUTATION; EC,EC
Accession T0001
Systematic name Allele 1 and 2: g.24337C>A, c.431C>A, r.431c>a, p.Ser144X
Original code A.II.1
Description Allele 1 and 2: a point mutation in the exon 3 leading to a
Description premature stop codon
Date 04-Aug-2005 (Rel. 1, Created)
Date 04-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24337
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0105: 444
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 144
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24337
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0105: 444
Feature /codon: tca -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 144
Feature /change: S -> X
Symptoms Hypogammaglobulinemia
Sex XY
Relative TNFRSF13Bbase; T0002 brother
//
ID S144X(1b),S144X(1b); standard; MUTATION; EC,EC
Accession T0002
Systematic name Allele 1 and 2: g.24337C>A, c.431C>A, r.431c>a, p.Ser144X
Original code A.II.2
Description Allele 1 and 2: a point mutation in the exon 3 leading to a
Description premature stop codon
Date 04-Aug-2005 (Rel. 1, Created)
Date 04-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24337
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0105: 444
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 144
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 24337
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0105: 444
Feature /codon: tca -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 144
Feature /change: S -> X
Symptoms CVID, splenomegaly, lymphoid infiltration in the liver and
Symptoms gut, hypogammaglobulinemia, otitis media, pneumonia
Sex XY
Relative TNFRSF13Bbase; T0001 brother
//
ID C172Y(1),=; standard; MUTATION; TM,
Accession T0043
Systematic name Allele 1: g.32647G>A, c.515G>A, r.515g>a, p.Cys172Tyr
Original code P4
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19629655
RefAuthors Mohammadi, J., Liu, C., Aghamohammadi, A., Bergbreiter,
RefAuthors A., Du, L., Lu, J., Rezaei, N., Amirzargar, A. A., Moin,
RefAuthors M., Salzer, U., Pan-Hammarstrom, Q., Hammarstrom, L.
RefTitle Novel mutations in TACI (TNFRSF13B) causing common
RefTitle variable immunodeficiency.
RefLoc J Clin Immunol:777-785 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32647
Feature /change: g -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 528
Feature /codon: tgt -> tat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 172
Feature /change: C -> Y
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms otitis media, sinusitis, pneumonia, bronchiectasis,
Symptoms chronic diarrhea, cirrhosis hepato/splenomegaly,
Symptoms chronic active hepatitis
Ethnic origin Caucasoid; Iran
//
ID A181E(1a),=; standard; MUTATION; TM,
Accession T0007
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code C.I.2
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Sex XX
Family history Not known
Relative TNFRSF13Bbase; T0008; son
Relative TNFRSF13Bbase; T0009; daughter
//
ID A181E(1b),=; standard; MUTATION; TM,
Accession T0008
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code C.II.1
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID, splenomegaly
Sex XY
Family history Inherited
Relative TNFRSF13Bbase; T0007; mother
Relative TNFRSF13Bbase; T0009; sister
//
ID A181E(1c),=; standard; MUTATION; TM,
Accession T0009
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code C.II.2
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms sel. IgAD
Sex XX
Family history Inherited
Relative TNFRSF13Bbase; T0007; mother
Relative TNFRSF13Bbase; T0008; brother
//
ID A181E(2),=; standard; MUTATION; TM,
Accession T0012
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code S3
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XY
Family history De novo
//
ID A181E(3),=; standard; MUTATION; TM,
Accession T0013
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code S4
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID, splenomegaly, tonsillar hyperplasia
Sex XX
Family history De novo
//
ID A181E(4),=; standard; MUTATION; TM,
Accession T0014
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code S5
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XX
Family history De novo
//
ID A181E(5),=; standard; MUTATION; TM,
Accession T0015
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code S6
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XX
Family history De novo
//
ID A181E(6),A181E(6); standard; MUTATION; TM,TM
Accession T0016
Systematic name Allele 1 and 2: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code S8
Description Allele 1 and 2: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Symptoms CVID
Sex XX
//
ID A181E(7a),=; standard; MUTATION; TM,
Accession T0033
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code C15
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 09-Aug-2005 (Rel. 1, Created)
Date 09-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XX
Relative TNFRSF13Bbase; T0034; brother
//
ID A181E(7b),=; standard; MUTATION; TM,
Accession T0034
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 09-Aug-2005 (Rel. 1, Created)
Date 09-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XY
Relative TNFRSF13Bbase; T0033; sister
//
ID A181E(8),=; standard; MUTATION; TM,
Accession T0045
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code UAB00142
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19775471
RefAuthors Waldrep, M. L., Zhuang, Y., Schroeder, H. W.
RefTitle Analysis of TACI mutations in CVID & RESPI patients
RefTitle who have inherited HLA B*44 or HLA*B8.
RefLoc BMC Med Genet:100 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
FFeature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent sinusitis, bronchitis, fatigue, malaise,
Symptoms splenomegaly
Age 35
Sex XX
Ethnic origin USA
Comment After splenectomy, the patient developed hepatomegaly,
Comment portal hypertension, pulmonary effusions, ascites
//
ID A181E(9),=; standard; MUTATION; TM,
Accession T0046
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code P.1
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Multiple pneumoniae, TSV bronchiolitis,
Symptoms gastrointestinal infections, increased T cells
Age 3.4
Sex XY
Ethnic origin The Netherlands
//
ID A181E(10a),=; standard; MUTATION; TM,
Accession T0049
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code P.4
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent upper respiratory tract infection,
Symptoms increased B cells
Age 6.7
Sex XY
Ethnic origin The Netherlands
Relative TNFRSF13Bbase; T0050; brother
//
ID A181E(10b),=; standard; MUTATION; TM,
Accession T0050
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code P.8
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent upper respiratory tract infection,
Symptoms increased T cells, low B cell count
Age 6.5
Sex XY
Ethnic origin The Netherlands
Relative TNFRSF13Bbase; T0049; brother
//
ID A181E(11),=; standard; MUTATION; TM,
Accession T0052
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code P.6
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20006554
RefAuthors van de Ven, A. A., van de Corput, L., van Tilburg, C. M.,
RefAuthors Tesselaar, K., van Gent, R., Sanders, E. A., Boes, M.,
RefAuthors Bloem, A. C., van Montfrans, J. M.
RefTitle Lymphocyte characteristics in children with common
RefTitle variable immunodeficiency.
RefLoc Clin Immunol:63-71 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent upper respiratory tract infection
Age 3.6
Sex XY
Ethnic origin The Netherlands
Relative TNFRSF13Bbase; T0053; brother
//
ID A181E(12),=; standard; MUTATION; TM,
Accession T0054
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code PA-039
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20156508
RefAuthors Dong, X., Hoeltzle, M. V., Hagan, J. B., Park, M. A., Li,
RefAuthors J. T., Abraham, R. S.
RefTitle Phenotypic and clinical heterogeneity associated with
RefTitle monoallelic TNFRSF13B-A181E mutations in common variable
RefTitle immunodeficiency.
RefLoc Hum Immunol:505-511 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Profound hypogammaglobulinemia (IgG and IgM), IgA
Symptoms deficiency, hypothyroidism, chronic sinusitis, recurrent
Symptoms pneumonia, bronchiectasis, adenocarcinoma of the rectum,
Symptoms Burkitt's lymphoma of the small bowel
Age 58
Sex XY
//
ID A181E(13a),=; standard; MUTATION; TM,
Accession T0055
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code PA-260
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20156508
RefAuthors Dong, X., Hoeltzle, M. V., Hagan, J. B., Park, M. A., Li,
RefAuthors J. T., Abraham, R. S.
RefTitle Phenotypic and clinical heterogeneity associated with
RefTitle monoallelic TNFRSF13B-A181E mutations in common variable
RefTitle immunodeficiency.
RefLoc Hum Immunol:505-511 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Profound hypogammaglobulinemia (IgG and IgM), IgA
Symptoms deficiency, non-Hodgkin's lymphoma, Hashimoto's
Symptoms thyroiditis, chronic otitis media, giardiasis
Age 44
Sex XY
Relative TNFRSF13Bbase; T0056; brother
//
ID A181E(13b),=; standard; MUTATION; TM,
Accession T0056
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code PA-301
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20156508
RefAuthors Dong, X., Hoeltzle, M. V., Hagan, J. B., Park, M. A., Li,
RefAuthors J. T., Abraham, R. S.
RefTitle Phenotypic and clinical heterogeneity associated with
RefTitle monoallelic TNFRSF13B-A181E mutations in common variable
RefTitle immunodeficiency.
RefLoc Hum Immunol:505-511 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Recurrent febrile syndrome, leukocytosis, recurrent skin
Symptoms rash, idiopathic granulomatosis, profound lymphadenopathy
Age 47
Sex XY
Relative TNFRSF13Bbase; T0055; brother
//
ID A181E(14),=; standard; MUTATION; TM,
Accession T0057
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code PA-235
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20156508
RefAuthors Dong, X., Hoeltzle, M. V., Hagan, J. B., Park, M. A., Li,
RefAuthors J. T., Abraham, R. S.
RefTitle Phenotypic and clinical heterogeneity associated with
RefTitle monoallelic TNFRSF13B-A181E mutations in common variable
RefTitle immunodeficiency.
RefLoc Hum Immunol:505-511 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms sIgA deficiency, IgG 2 and IgG4 subclass deficiency,
Symptoms B-cell, CD4 T-cell and NK cell lymphopenia with reduced NK
Symptoms cell function, chronic sinusitis, pneumonia, bronchiectasis
Age 67
Sex XX
//
ID A181E(15),=; standard; MUTATION; TM,
Accession T0058
Systematic name Allele 1: g.32674C>A, c.542C>A, r.542c>a, p.Ala181Glu
Original code TA-008
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the TM domain
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20156508
RefAuthors Dong, X., Hoeltzle, M. V., Hagan, J. B., Park, M. A., Li,
RefAuthors J. T., Abraham, R. S.
RefTitle Phenotypic and clinical heterogeneity associated with
RefTitle monoallelic TNFRSF13B-A181E mutations in common variable
RefTitle immunodeficiency.
RefLoc Hum Immunol:505-511 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32674
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105; GI:23238205; TNFRSF13BC: 555
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 181
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Absence of circulating B cells, profound
Symptoms hypogammaglobulinemia (IgG and IgM), IgA deficiency,
Symptoms severe pneumococcal infection and bacteremia
Age 46
Sex XY
//
ID S194X(1),=; standard; MUTATION; CP,
Accession T0017
Systematic name Allele 1: g.32713_32714delinsAA, c.581_582delinsAA,
Systematic name r.581_582delinsaa, p.Ser194X
Original code S9
Description Allele 1: a complex mutation in the exon 4 leading to
Description a premature stop codon
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0105: 32713..32714
Feature /change: cc -> aa
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0105:
Feature /loc: 594..595
Feature /codon: tcc -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O14836; TR13B_HUMAN: 194
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID, splenomegaly, peribroncheal lymph. hyperplasia
Sex XY
Family history De novo
//
ID R202H(1),=; standard; MUTATION; CP,
Accession T0018
Systematic name Allele 1: g.32737G>A, c.605G>A, r.605g>a, p.Arg202His
Original code S10
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 05-Aug-2005 (Rel. 1, Created)
Date 05-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007087
RefAuthors Salzer, U., Chapel, H. M., Webster, A. D., Pan-
RefAuthors Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter,
RefAuthors H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A.,
RefAuthors Hammarstrom, L., Grimbacher, B.
RefTitle Mutations in TNFRSF13B encoding TACI are associated with
RefTitle common variable immunodeficiency in humans.
RefLoc Nat Genet 37:820-828 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32737
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 618
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 202
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID, vitiligo, autoimmune thyroiditis, tonsillar
Symptoms hyperplasia
Sex XX
Family history De novo
//
ID R202H(2),=; standard; MUTATION; CP,
Accession T0035
Systematic name Allele 1: g.32737G>A, c.605G>A, r.605g>a, p.Arg202His
Original code C17
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 09-Aug-2005 (Rel. 1, Created)
Date 09-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007086
RefAuthors Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R.,
RefAuthors Bonilla, F., Schneider, L., Geha, R. S.
RefTitle TACI is mutant in common variable immunodeficiency and igA
RefTitle deficiency.
RefLoc Nat Genet 37:829-834 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 32737
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0105: 618
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O14836; TR13B_HUMAN: 202
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms CVID
Sex XX
//
ID Intron 1(1),Intron 1(1); standard; MUTATION;
Accession T0044
Systematic name Allele 1 and 2: g.1075G>T, c.61+1G>T, r.61+1g>u
Original code P1
Description Allele 1 and 2: A point mutation in the intron 1 leading to
Description aberrant splicing
Date 28-Jun-2010 (Rel. 1, Created)
Date 28-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19629655
RefAuthors Mohammadi, J., Liu, C., Aghamohammadi, A., Bergbreiter,
RefAuthors A., Du, L., Lu, J., Rezaei, N., Amirzargar, A. A., Moin,
RefAuthors M., Salzer, U., Pan-Hammarstrom, Q., Hammarstrom, L.
RefTitle Novel mutations in TACI (TNFRSF13B) causing common
RefTitle variable immunodeficiency.
RefLoc J Clin Immunol:777-785 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0105: 1075
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0105: 1075
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Otitis, sinusitis, pneumonia, chronic diarrhea,
Symptoms urinary tract infection, epididymitis,
Symptoms asthamanasal polyps, anemia
Sex XY
Ethnic origin Caucasoid; Iran
Parents Consanguineous
Comment Patient's mother, younger sister and uncle showed
Comment heterozygous mutation Patient's older sister showed
Comment homozygous mutation
//
//
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