Database CD19base
Version 1.1
File cd19pub.html
Date 21-Aug-2008
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/CD19base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF150.html
Gene CD19
Disease CD19 deficiency
Sequence IDRefSeq:D0112; IDRefSeq:C0112; UniProt:P15391
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Funding Finnish Academy
Comments sequence entry reference in every entry;
//
ID @K324X328(1),@K324X328(1); standard; MUTATION; CP,CP
Accession C0001
Systematic name Allele 1 and 2: g.5221dupA, c.971dupA, r.971dupa,
Systematic name p.Arg325fsX4
Original code Patient 1
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 6 leading to a premature stop codon in the CP domain
Date 30-May-2006 (Rel. 1, Created)
Date 30-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16672701
RefAuthors van Zelm, M. C., Reisli, I., van der Burg, M., Castano,
RefAuthors D., van Noesel, C. J., van Tol, M. J., Woellner, C.,
RefAuthors Grimbacher, B., Patino, P. J., van Dongen, J. J., Franco,
RefAuthors J. L.
RefTitle An antibody-deficiency syndrome due to mutations in the
RefTitle CD19 gene.
RefLoc N Engl J Med 354:1901-1912 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0112: 5222
Feature /change: +a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1034
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 324
Feature /change: K -> KANDX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0112: 5222
Feature /change: +a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1034
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 324
Feature /change: K -> KANDX
Feature /domain: CP
Symptoms Recurrent bronchiolitis and bronchopneumonia, meningitis,
Symptoms glomerulonephritis, hypogammaglobulinemia, seven-month
Symptoms history of hematuria
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID #E462X465(1a),#E462X465(1a); standard; MUTATION; CP,CP
Accession C0002
Systematic name Allele 1 and 2: g.6679_6680delGA, c.1384_1385delGA,
Systematic name r.1384_1385delga, p.Asn463fsX3
Original code Patient 2
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 11 leading to a premature stop codon in the CP domain
Date 30-May-2006 (Rel. 1, Created)
Date 30-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16672701
RefAuthors van Zelm, M. C., Reisli, I., van der Burg, M., Castano,
RefAuthors D., van Noesel, C. J., van Tol, M. J., Woellner, C.,
RefAuthors Grimbacher, B., Patino, P. J., van Dongen, J. J., Franco,
RefAuthors J. L.
RefTitle An antibody-deficiency syndrome due to mutations in the
RefTitle CD19 gene.
RefLoc N Engl J Med 354:1901-1912 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0112: 6679..6680
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1446..1447
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 462
Feature /change: E -> ERGX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0112: 6679..6680
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1446..1447
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 462
Feature /change: E -> ERGX
Feature /domain: CP
Symptoms Otitis media, sinusitis, pharyngitis, four bouts of
Symptoms pneumonia, bacterial conjunctivitis and chronic gastritis
Symptoms (Heliobacter pylori infection), hypogammaglobulinemia
Sex XY
Ethnic origin Colombia
Parents Non-consanguineous
Relative CD19base; C0003 sister
Relative CD19base; C0004 sister
//
ID #E462X465(1b),#E462X465(1b); standard; MUTATION; CP,CP
Accession C0003
Systematic name Allele 1 and 2: g.6679_6680delGA, c.1384_1385delGA,
Systematic name r.1384_1385delga, p.Asn463fsX3
Original code Patient 3
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 11 leading to a premature stop codon in the CP domain
Date 30-May-2006 (Rel. 1, Created)
Date 30-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16672701
RefAuthors van Zelm, M. C., Reisli, I., van der Burg, M., Castano,
RefAuthors D., van Noesel, C. J., van Tol, M. J., Woellner, C.,
RefAuthors Grimbacher, B., Patino, P. J., van Dongen, J. J., Franco,
RefAuthors J. L.
RefTitle An antibody-deficiency syndrome due to mutations in the
RefTitle CD19 gene.
RefLoc N Engl J Med 354:1901-1912 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0112: 6679..6680
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1446..1447
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 462
Feature /change: E -> ERGX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0112: 6679..6680
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1446..1447
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 462
Feature /change: E -> ERGX
Feature /domain: CP
Symptoms Otitis media, sinusitis, pharyngitis,
Symptoms hypogammaglobulinemia, recurrent upper respiratory tract
Symptoms infections, pneumonia, herpes zoster, recurrent bacterial
Symptoms conjunctivitis with dacryocystitis and diarrhea
Sex XX
Ethnic origin Colombia
Parents Non-consanguineous
Relative CD19base; C0002 brother
Relative CD19base; C0004 sister
//
ID #E462X465(1c),#E462X465(1c); standard; MUTATION; CP,CP
Accession C0004
Systematic name Allele 1 and 2: g.6679_6680delGA, c.1384_1385delGA,
Systematic name r.1384_1385delga, p.Asn463fsX3
Original code Patient 4
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 11 leading to a premature stop codon in the CP domain
Date 30-May-2006 (Rel. 1, Created)
Date 30-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16672701
RefAuthors van Zelm, M. C., Reisli, I., van der Burg, M., Castano,
RefAuthors D., van Noesel, C. J., van Tol, M. J., Woellner, C.,
RefAuthors Grimbacher, B., Patino, P. J., van Dongen, J. J., Franco,
RefAuthors J. L.
RefTitle An antibody-deficiency syndrome due to mutations in the
RefTitle CD19 gene.
RefLoc N Engl J Med 354:1901-1912 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0112: 6679..6680
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1446..1447
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 462
Feature /change: E -> ERGX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0112: 6679..6680
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0112: 1446..1447
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15391; CD19_HUMAN: 462
Feature /change: E -> ERGX
Feature /domain: CP
Symptoms Otitis media, sinusitis, pharyngitis,
Symptoms hypogammaglobulinemia, recurrent upper respiratory tract
Symptoms infections, pneumonia, recurrent skin abscesses, chronic
Symptoms diarrhea, bronchitis, and recurrent bacterial
Symptoms conjunctivitis
Sex XX
Ethnic origin Colombia
Parents Non-consanguineous
Relative CD19base; C0002 brother
Relative CD19base; C0003 sister
//
ID Intron 5(1),Gene deleted; standard; MUTATION;
Accession C0005
Systematic name Allele 1: g.IVS5-1G>T, c.947-1G>T, r.
Systematic name Allele 2: Gene deleted
Description Allele 1: A point mutation in the intron 5 leading to an
Description amino acid change
Description Allele 2: A gross deletion of at least 68.5 kbp including
Description the CD19 gene
Date 05-Jun-2008 (Rel. 1, Created)
Date 05-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17882224
RefAuthors Kanegane, H., Agematsu, K., Futatani, T., Sira, M. M.,
RefAuthors Suga, K., Sekiguchi, T., van Zelm, M. C., Miyawaki, T.
RefTitle Novel mutations in a japanese patient with CD19
RefTitle deficiency.
RefLoc Genes Immun:663-670 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0112: 5196
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature /genomic_region: 3'UTR
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms pyelonephritis, bronchitis, gastritis,
Symptoms hypogammaglobulinemia, mild thrombocytopenia, CVID
Age 5 y
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Comment doing well with intravenous immunoglobulin-replacement
Comment therapy
//
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