Database TAP2base
Version 1.0
File tap2pub.txt
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/TAP2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF60.html
Gene TAP2
Disease TAP2 deficiency
OMIM 170261
GDB 132669
Sequence IDRefSeq:D0085; IDRefSeq:C0085; UniProt:Q03519
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry;
//
ID R210X(1),R210X(1); standard; MUTATION;
Accession T0004
Systematic name Allele 1 and 2: g.42907C>T, c.628C>T, r.628c>u, p.Arg210X
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20083708
RefAuthors Espana, A., Gonzalez-Santesteban, C., Martinez-Martinez,
RefAuthors L., Bauza, A., de la Calle-Martin, O.
RefTitle A novel mutation in the TAP2 gene in bare lymphocyte
RefTitle syndrome: association with metastatic cutaneous squamous
RefTitle cell carcinoma.
RefLoc Arch Dermatol:96-98 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0085: 42907
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0085; GI:549044; TAP2C: 656
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 210
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0085: 42907
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0085; GI:549044; TAP2C: 656
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 210
Feature /change: R -> X
Symptoms Ulcers; Recurrent sinobronchial infections; Bronchiectasis;
Symptoms Necrotizing granulomatous inflammation;
Age 9
Sex XX
Comment Patient's mother and daughter were heterozygous for the
Comment same mutation.
//
ID R220X(1),R220X(1); standard; MUTATION;
Accession T0001
Systematic name Allele 1 and 2: g.42937C>T, c.686C>T, p.R220X
Original code GOR
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon
Date 21-Mar-2003 (Rel. 1, Created)
Date 21-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11529920
RefAuthors Matamoros, N., Milà , J., Llano, M., Balas, A., Vicario,
RefAuthors J. L., Pons, J., Crespi, C., Martinez, N., Iglesias-
RefAuthors Alzueta, J., Lopez-Botet, M.
RefTitle Molecular studies and NK cell function of a new case of
RefTitle TAP2 homozygous human deficiency.
RefLoc Clin Exp Immunol 125:274-282 (2001)
RefNumber [2]
RefCrossRef PUBMED; 12644316
RefAuthors Crespi;, C., Rosa Julià , M., Muñoz-Saa, I., Perez-
RefAuthors Castellano, M. T., Milà , J., Matamoros, N.
RefTitle Skewed inhibitory receptors expression in a TAP2-deficient
RefTitle patient.
RefLoc Immunol Lett 86:149-153 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0085: 42937
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0085: 686
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 220
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0085: 42937
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0085: 686
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 220
Feature /change: R -> X
Sex XY
Parents Consanguineous
Comment -!-At 28 years old, he was diagnosed as an IgG2 subclass
Comment deficiency and he started substitutive gamma globulin
Comment therapy monthly. Three years later he was included in a
Comment lung transplant programme. After HLA tissue typing studies
Comment and flow cytometric analysis he was diagnosed as HLA class
Comment I deficiency.
//
ID #R327X379(1a),#R327X379(1a); standard; MUTATION;
Accession T0002
Systematic name Allele 1 and 2: g.45870delA, c.1007delA, p.R327fsX379
Original code Patient 1
Description Allele 1 and 2: deletion in the exon 6 leading to a
Description premature stop codon
Date 01-Apr-2003 (Rel. 1, Created)
Date 01-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10560675
RefAuthors Moins-Teisserenc, H. T., Gadola, S. D., Cella, M., Dunbar,
RefAuthors P. R., Exley, A., Blake, N., Baykal, C., Lambert, J.,
RefAuthors Bigliardi, P., Willemsen, M., Jones, M., Buechner, S.,
RefAuthors Colonna, M., Gross, W. L., Cerundolo, V.
RefTitle Association of a syndrome resembling wegener's
RefTitle granulomatosis with low surface expression of HLA class-I
RefTitle molecules.
RefLoc Lancet 354:1598-1603 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0085: 45870
Feature /change: -a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0085: 1007
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 327
Feature /change: R
Feature /change: -> GRGRWCGKPL EGCRPFAVLG PRSMKSVAIK RPLNNVGSCI
Feature /change: GGETWNAPCT CSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0085: 45870
Feature /change: -a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0085: 1007
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 327
Feature /change: R
Feature /change: -> GRGRWCGKPL EGCRPFAVLG PRSMKSVAIK RPLNNVGSCI
Feature /change: GGETWNAPCT CSX
Sex XX
Ethnic origin Caucasoid; Turkey
Relative TAP2base; T0003 first-degree relative
//
ID #R327X379(1b),#R327X379(1b); standard; MUTATION;
Accession T0003
Systematic name Allele 1 and 2: g.45870delA, c.1007delA, p.R327fsX379
Original code Patient 3
Description Allele 1 and 2: deletion in the exon 6 leading to a
Description premature stop codon
Date 01-Apr-2003 (Rel. 1, Created)
Date 01-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10560675
RefAuthors Moins-Teisserenc, H. T., Gadola, S. D., Cella, M., Dunbar,
RefAuthors P. R., Exley, A., Blake, N., Baykal, C., Lambert, J.,
RefAuthors Bigliardi, P., Willemsen, M., Jones, M., Buechner, S.,
RefAuthors Colonna, M., Gross, W. L., Cerundolo, V.
RefTitle Association of a syndrome resembling wegener's
RefTitle granulomatosis with low surface expression of HLA class-I
RefTitle molecules.
RefLoc Lancet 354:1598-1603 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0085: 45870
Feature /change: -a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0085: 1007
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 327
Feature /change: R
Feature /change: -> GRGRWCGKPL EGCRPFAVLG PRSMKSVAIK RPLNNVGSCI
Feature /change: GGETWNAPCT CSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0085: 45870
Feature /change: -a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0085: 1007
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03519; TAP2_HUMAN: 327
Feature /change: R
Feature /change: -> GRGRWCGKPL EGCRPFAVLG PRSMKSVAIK RPLNNVGSCI
Feature /change: GGETWNAPCT CSX
Sex XX
Ethnic origin Caucasoid; Turkey
Relative TAP2base; T0002 first-degree relative
//
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