Database TAP1base
Version 1.0
File tap1pub.txt
Date 18-Jun-2007
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/TAP1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF107.html
Gene TAP1
Disease TAP1 deficiency
OMIM 170260
GDB 132668
Sequence IDRefSeq:D0084; IDRefSeq:C0084; UniProt:Q03518
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #D213X228(1),#D213X228(1); standard; MUTATION;
Accession T0001
Systematic name Allele 1 and 2: g.26198delC, c.639delC, p.D213fsX228
Original code Patient 1
Description Allele 1 and 2: deletion in the exon 2 leading to a
Description premature stop codon
Date 11-Feb-2003 (Rel. 1, Created)
Date 11-Feb-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10074495
RefAuthors de la Salle, H., Zimmer, J., Fricker, D., Angenieux, C.,
RefAuthors Cazenave, J. P., Okubo, M., Maeda, H., Plebani, A.,
RefAuthors Tongio, M. M., Dormoy, A., Hanau, D.
RefTitle HLA class I deficiencies due to mutations in subunit 1 of
RefTitle the peptide transporter TAP1.
RefLoc J Clin Invest 103:R9-R13 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0084: 26198
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0084: 639
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 213
Feature /change: D -> DGFYKMAQPI PSLETX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0084: 26198
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0084: 639
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 213
Feature /change: D -> DGFYKMAQPI PSLETX
Protein exp. no functional TAP1 subunit
Ethnic origin Caucasoid; Italia
Parents Consanguineous
//
ID R378X(1a),R378X(1a); standard; MUTATION;
Accession T0003
Systematic name Allele 1 and 2: g.28224C>T, c.1132C>T, r.1132c>u, p.Arg378X
Original code Case 1
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 21-Mar-2007 (Rel. 1, Created)
Date 21-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16624613
RefAuthors Dogu, F., Ikinciogullari, A., Fricker, D., Bozdogan,
RefAuthors G., Aytekin, C., Ileri, M., Tezix, T., Babacan, E., De La
RefAuthors Salle, H.
RefTitle A novel mutation for TAP deficiency and its possible
RefTitle association with toxoplasmosis.
RefLoc Parasitol Int:219-222 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0084: 28224
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1132
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 378
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0084: 28224
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1132
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 378
Feature /change: R -> X
Symptoms persistent skin lesions located on the nose, nostrils and
Symptoms lips, loss of vision in left eye, frequent sino-pulmonary
Symptoms infections and bronchiectasis, persistent fever and
Symptoms gradually increasing respiratory distress during
Symptoms hospitalization, meningitis at 6 months of age
Age 14
Sex XY
Parents Consanguineous
Relative TAP1base; T0004 sister
//
ID R378X(1b),R378X(1b); standard; MUTATION;
Accession T0004
Systematic name Allele 1 and 2: g.28224C>T, c.1132C>T, r.1132c>u, p.Arg378X
Original code Case 2
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 21-Mar-2007 (Rel. 1, Created)
Date 21-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16624613
RefAuthors Dogu, F., Ikinciogullari, A., Fricker, D., Bozdogan,
RefAuthors G., Aytekin, C., Ileri, M., Tezix, T., Babacan, E., De La
RefAuthors Salle, H.
RefTitle A novel mutation for TAP deficiency and its possible
RefTitle association with toxoplasmosis.
RefLoc Parasitol Int:219-222 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0084: 28224
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1132
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 378
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0084: 28224
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1132
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 378
Feature /change: R -> X
Symptoms recurrent lower airway symptoms ongoing for 3-4 years
Age 21
Sex XX
Parents Consanguineous
Relative TAP1base; T0003 brother
//
ID Q522X(1a),Q522X(1a); standard; MUTATION;
Accession T0005
Systematic name Allele 1 and 2: g.30006C>T, c.1564C>T, r.1564c>u, p.Gln522X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon
Date 22-Mar-2007 (Rel. 1, Created)
Date 22-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16299152
RefAuthors Parissiadis, A., Dormoy, A., Fricker, D., Hanau, D., de la
RefAuthors Salle, H., Cazenave, J. P., Lenoble, P., Donato, L.
RefTitle Unilateral necrotising toxoplasmic retinochoroiditis as
RefTitle the main clinical manifestation of a peptide
RefTitle transporter (TAP) deficiency.
RefLoc Br J Ophthalmol:1661-1662 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0084: 30006
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1564
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 522
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0084: 30006
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1564
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 522
Feature /change: Q -> X
Symptoms severe ocular toxoplasmosis, exaggerated reaction to an
Symptoms intradermal tuberculin test 1 year earlier
Sex XY
Relative TAP1base; T0006 brother
//
ID Q522X(1b),Q522X(1b); standard; MUTATION;
Accession T0006
Systematic name Allele 1 and 2: g.30006C>T, c.1564C>T, r.1564c>u, p.Gln522X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon
Date 22-Mar-2007 (Rel. 1, Created)
Date 22-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16299152
RefAuthors Parissiadis, A., Dormoy, A., Fricker, D., Hanau, D., de la
RefAuthors Salle, H., Cazenave, J. P., Lenoble, P., Donato, L.
RefTitle Unilateral necrotising toxoplasmic retinochoroiditis as
RefTitle the main clinical manifestation of a peptide
RefTitle transporter (TAP) deficiency.
RefLoc Br J Ophthalmol:1661-1662 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0084: 30006
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1564
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 522
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0084: 30006
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0084: 1564
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q03518; TAP1_HUMAN: 522
Feature /change: Q -> X
Symptoms bronchial obstruction unresponsive to inhaled
Symptoms bronchodilators, a bacterial colonization of the lower
Symptoms airways associated to asthma-like symptoms, but no
Symptoms bronchiectasies
Sex XY
Relative TAP1base; T0005 brother
//
ID Intron 1(1),Intron 1(1); standard; MUTATION;
Accession T0002
Systematic name Allele 1 and 2: g.IVS1-1G>A
Original code Patient 2; KMW
Description Allele 1 and 2: point mutation in the intron 1 leading to
Description aberrant splicing
Date 11-Feb-2003 (Rel. 1, Created)
Date 11-Feb-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10074495
RefAuthors de la Salle, H., Zimmer, J., Fricker, D., Angenieux, C.,
RefAuthors Cazenave, J. P., Okubo, M., Maeda, H., Plebani, A.,
RefAuthors Tongio, M. M., Dormoy, A., Hanau, D.
RefTitle HLA class I deficiencies due to mutations in subunit 1 of
RefTitle the peptide transporter TAP1.
RefLoc J Clin Invest 103:R9-R13 (1999)
RefNumber [2]
RefCrossRef PUBMED; 10074494
RefAuthors Furukawa, H., Murata, S., Yabe, T., Shimbara, N., Keicho,
RefAuthors N., Kashiwase, K., Watanabe, K., Ishikawa, Y., Akaza, T.,
RefAuthors Tadokoro, K., Tohma, S., Inoue, T., Tokunaga, K.,
RefAuthors Yamamoto, K., Tanaka, K., Juji, T.
RefTitle Splice acceptor site mutation of the transporter
RefTitle associated with antigen processing-1 gene in human bare
RefTitle lymphocyte syndrome.
RefLoc J Clin Invest 103:755-758 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0084: 26157
Feature /change: g -> a
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: D0084: 26157
Feature /change: g -> a
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
Protein exp. no functional TAP1 subunit
Sex XX
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
//
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