Database TAPBPbase
Version 1.0
File tapbppub.html
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/TAPBPbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF107.html
Gene TAPBP
Disease Tapasin deficiency
OMIM 601962
GDB 9784212
Sequence IDRefSeq:D0086; IDRefSeq:C0086; UniProt:O15533
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Deletion(1),Deletion(1); standard; MUTATION;
Accession T0001
Original code S.M.
Description Allele 1 and 2: a 7.4 kb deletion between introns 3
Description and 7 leading to a premature stop codon
Date 06-Oct-2004 (Rel. 1, Created)
Date 06-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12149238
RefAuthors Yabe, T., Kawamura, S., Sato, M., Kashiwase, K., Tanaka,
RefAuthors H., Ishikawa, Y., Asao, Y., Oyama, J., Tsuruta, K.,
RefAuthors Tokunaga, K., Tadokoro, K., Juji, T.
RefTitle A subject with a novel type I bare lymphocyte syndromehas
RefTitle tapasin deficiency due to deletion of 4 exons by alu-
RefTitle mediated recombination.
RefLoc Blood 100:1496-1498 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: unknown
Feature /genomic_region: between introns 3-7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0086:
Feature /loc: 641..1506
Feature /change: -tggtactgac tgtcctcacc cacacccctg cccctcgagt
Feature /change: gagactggga caagatgctc tgctggactt gagctttgcc
Feature /change: tacatgcccc ccacctccga ggccgcctca tctctggctc
Feature /change: cgggtccccc tccctttggg ctagagtggc gacgccagca
Feature /change: cctgggtaag ggacatctgc tcctggctgc aactcctggg
Feature /change: ctgaatggcc agatgccagc agcccaagaa ggggccgtgg
Feature /change: catttgctgc ttgggatgat gatgagccat ggggcccatg
Feature /change: gaccggaaat gggaccttct ggctgcctac agttcaaccc
Feature /change: tttcaggagg gcacctatct ggccaccata cacctgccat
Feature /change: acctgcaagg acaggtcacc ctggagcttg ctgtgtacaa
Feature /change: accccccaaa gtgtccctga tgccagcaac ccttgcacgg
Feature /change: gccgccccag gggaggcacc cccggaattg ctctgccttg
Feature /change: tgtcccactt ctacccttct gggggcctgg aggtggagtg
Feature /change: ggaactccgg ggtggcccag ggggccgctc tcagaaggcc
Feature /change: gaggggcaga ggtggctctc ggccctgcgc caccattccg
Feature /change: atggctctgt cagcctctct gggcacttgc agccgccccc
Feature /change: agtcaccact gagcagcatg gggcacgcta tgcctgtcga
Feature /change: attcaccatc ccagcctgcc tgcctcgggg cgcagcgctg
Feature /change: aggtcaccct ggaggtagca ggtctttcag ggccctccct
Feature /change: tgaggacagc gtaggccttt tcctgtctgc ctttcttctg
Feature /change: cttgggctct tcaaggcact gggctgggct gctgtctacc
Feature /change: tgtccacctg caaggattca aagaag
Feature /note: deletion of exons 4-7
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O15533; TPSN_HUMAN: 157..445
Feature /change: VVLTVLTHTP APRVRLGQDA LLDLSFAYMP PTSEAASSLA
Feature /change: PGPPPFGLEW RRQHLGKGHL LLAATPGLNG QMPAAQEGAV
Feature /change: AFAAWDDDEP WGPWTGNGTF WLPTVQPFQE GTYLATIHLP
Feature /change: YLQGQVTLEL AVYKPPKVSL MPATLARAAP GEAPPELLCL
Feature /change: VSHFYPSGGL EVEWELRGGP GGRSQKAEGQ RWLSALRHHS
Feature /change: DGSVSLSGHL QPPPVTTEQH GARYACRIHH PSLPASGRSA
Feature /change: EVTLEVAGLS GPSLEDSVGL FLSAFLLLGL FKALGWAAVY
Feature /change: LSTCKDSKK
Feature /change: ->
Feature /change: ESRVRALTAI LWKPPSSLAQ ASVVAPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: unknown
Feature /genomic_region: between introns 3-7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0086:
Feature /loc: 641..1506
Feature /change: -tggtactgac tgtcctcacc cacacccctg cccctcgagt
Feature /change: gagactggga caagatgctc tgctggactt gagctttgcc
Feature /change: tacatgcccc ccacctccga ggccgcctca tctctggctc
Feature /change: cgggtccccc tccctttggg ctagagtggc gacgccagca
Feature /change: cctgggtaag ggacatctgc tcctggctgc aactcctggg
Feature /change: ctgaatggcc agatgccagc agcccaagaa ggggccgtgg
Feature /change: catttgctgc ttgggatgat gatgagccat ggggcccatg
Feature /change: gaccggaaat gggaccttct ggctgcctac agttcaaccc
Feature /change: tttcaggagg gcacctatct ggccaccata cacctgccat
Feature /change: acctgcaagg acaggtcacc ctggagcttg ctgtgtacaa
Feature /change: accccccaaa gtgtccctga tgccagcaac ccttgcacgg
Feature /change: gccgccccag gggaggcacc cccggaattg ctctgccttg
Feature /change: tgtcccactt ctacccttct gggggcctgg aggtggagtg
Feature /change: ggaactccgg ggtggcccag ggggccgctc tcagaaggcc
Feature /change: gaggggcaga ggtggctctc ggccctgcgc caccattccg
Feature /change: atggctctgt cagcctctct gggcacttgc agccgccccc
Feature /change: agtcaccact gagcagcatg gggcacgcta tgcctgtcga
Feature /change: attcaccatc ccagcctgcc tgcctcgggg cgcagcgctg
Feature /change: aggtcaccct ggaggtagca ggtctttcag ggccctccct
Feature /change: tgaggacagc gtaggccttt tcctgtctgc ctttcttctg
Feature /change: cttgggctct tcaaggcact gggctgggct gctgtctacc
Feature /change: tgtccacctg caaggattca aagaag
Feature /note: deletion of exons 4-7
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O15533; TPSN_HUMAN: 157..445
Feature /change: VVLTVLTHTP APRVRLGQDA LLDLSFAYMP PTSEAASSLA
Feature /change: PGPPPFGLEW RRQHLGKGHL LLAATPGLNG QMPAAQEGAV
Feature /change: AFAAWDDDEP WGPWTGNGTF WLPTVQPFQE GTYLATIHLP
Feature /change: YLQGQVTLEL AVYKPPKVSL MPATLARAAP GEAPPELLCL
Feature /change: VSHFYPSGGL EVEWELRGGP GGRSQKAEGQ RWLSALRHHS
Feature /change: DGSVSLSGHL QPPPVTTEQH GARYACRIHH PSLPASGRSA
Feature /change: EVTLEVAGLS GPSLEDSVGL FLSAFLLLGL FKALGWAAVY
Feature /change: LSTCKDSKK
Feature /change: ->
Feature /change: ESRVRALTAI LWKPPSSLAQ ASVVAPX
Symptoms primary chronic glomerulonephritis for 10 years, history
Symptoms of herpes zoster and polyps of stomach and colon
Sex XX
Parents Non-consanguineous
Comment an Alu repeat-mediated unequal homologous recombination may
Comment be the cause of the deletion
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