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- databases for immunodeficiency-causing mutations

   UNC93B1base
   Mutation registry for  UNC93B deficiency (Herpes simplex encephalitis)


Database        UNC93B1base
Version         1.0
File            unc93b1pub.html
Date            23-Aug-2007
Curator         Mauno Vihinen
Address         Institute of Medical Technology 
Address         FI-33014 University of Tampere, Finland
Phone           +358-3-3551 7735
Fax             +358-3-3551 7710
Email           Mauno.Vihinen@uta.fi
URL             http://bioinf.uta.fi/UNC93B1base/
FTP             ftp://protein.uta.fi/pub/unc93b1pub.dat
Gene            UNC93B1
Disease         UNC93B deficiency 
OMIM            608204
GDB             11508132
Sequence        IDRefSeq:D0122; IDRefSeq:C0122; UniProt:Q9H1C4 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry;
//
ID              G261S(1),G261S(1); standard; MUTATION;
Accession       U0002
Systematic name Allele 1 and 2: g.6765G>A, c.781G>A, r.781g>a,
Original code   P2
Description     Allele 1 and 2: A point mutation in the exon 6 leading to
Description     aberrant splicing
Date            17-Apr-2007 (Rel. 1, Created)
Date            23-Aug-2007 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16973841
RefAuthors      Casrouge, A., Zhang, S. Y., Eidenschenk, C., Jouanguy, E., 
RefAuthors      Puel, A., Yang, K., Alcais, A., Picard, C., Mahfoufi, N., 
RefAuthors      Nicolas, N., Lorenzo, L., Plancoulaine, S., Senechal, B., 
RefAuthors      Geissmann, F., Tabeta, K., Hoebe, K., Du, X., Miller, R. 
RefAuthors      L., Heron, B., Mignot, C., de Villemeur, T. B., Lebon, P., 
RefAuthors      Dulac, O., Rozenberg, F., Beutler, B., Tardieu, M., Abel, 
RefAuthors      L., Casanova, J. L.
RefTitle        Herpes simplex virus encephalitis in human UNC-93B 
RefTitle        deficiency.
RefLoc          Science:308-312 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0122: 6765
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: IDRefSeq: C0122: 768..861
Feature           /note: skipping of exon 6
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q9H1C4; UN93B_HUMAN: 230..261
Feature           /change: LSFACAQLPM IYFLNHYLYD LNHTLYNVQS CG -> 
Feature           /change: APTATGSSAA STRRFCGRSR GAETSLWWRA CSWQWPSWPC
Feature           /change: CWCWVCAEPL TGPRRRSICA AWAGATSSSC PSSTCVTTAC
Feature           /change: ATSCLSLSTA ASRCSLPALV SPWAMACARW GWSGWLTSSW
Feature           /change: LTAWAPQPPH SWACWACGCH ARCPWWPEQG CTCCSPSSSF
Feature           /change: SGPLCLGSCN TAGSSMWQLP FGVWAVPX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0122: 6765
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: IDRefSeq: C0122: 768..861
Feature           /note: skipping of exon 6
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q9H1C4; UN93B_HUMAN: 230..261
Feature           /change: LSFACAQLPM IYFLNHYLYD LNHTLYNVQS CG -> 
Feature           /change: APTATGSSAA STRRFCGRSR GAETSLWWRA CSWQWPSWPC
Feature           /change: CWCWVCAEPL TGPRRRSICA AWAGATSSSC PSSTCVTTAC
Feature           /change: ATSCLSLSTA ASRCSLPALV SPWAMACARW GWSGWLTSSW
Feature           /change: LTAWAPQPPH SWACWACGCH ARCPWWPEQG CTCCSPSSSF
Feature           /change: SGPLCLGSCN TAGSSMWQLP FGVWAVPX
Symptoms        Herpes simplex virus encephalitis
Sex             XX
Ethnic origin   Caucasoid; French
Parents         Consanguineous
//
ID              #P345X447(1),#P345X447(1); standard; MUTATION;
Accession       U0001
Systematic name Allele 1 and 2: g.8466_8469delCTTT, c.1034_1037delCTTT,
Systematic name r.1034_1037delcuuu, p.Phe346fsX101
Original code   P1
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon
Date            17-Apr-2007 (Rel. 1, Created)
Date            17-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16973841
RefAuthors      Casrouge, A., Zhang, S. Y., Eidenschenk, C., Jouanguy, E., 
RefAuthors      Puel, A., Yang, K., Alcais, A., Picard, C., Mahfoufi, N., 
RefAuthors      Nicolas, N., Lorenzo, L., Plancoulaine, S., Senechal, B., 
RefAuthors      Geissmann, F., Tabeta, K., Hoebe, K., Du, X., Miller, R. 
RefAuthors      L., Heron, B., Mignot, C., de Villemeur, T. B., Lebon, P., 
RefAuthors      Dulac, O., Rozenberg, F., Beutler, B., Tardieu, M., Abel, 
RefAuthors      L., Casanova, J. L.
RefTitle        Herpes simplex virus encephalitis in human UNC-93B 
RefTitle        deficiency.
RefLoc          Science:308-312 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0122: 8466..8469
Feature           /change: -cttt
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0122: 1114..1117
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q9H1C4; UN93B_HUMAN: 345..346
Feature           /change: PF -> 
Feature           /change: PLSTAASRCS LPALVSPWAM ACARWGWSGW LTSSWLTAWA
Feature           /change: PQPPHSWACW ACGCHARCPW WPEQGCTCCS PSSSFSGPLC
Feature           /change: LGSCNTAGSS MWQLPFGVWA VPX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0122: 8466..8469
Feature           /change: -cttt
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0122: 1114..1117
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q9H1C4; UN93B_HUMAN: 345..346
Feature           /change: PF -> 
Feature           /change: PLSTAASRCS LPALVSPWAM ACARWGWSGW LTSSWLTAWA
Feature           /change: PQPPHSWACW ACGCHARCPW WPEQGCTCCS PSSSFSGPLC
Feature           /change: LGSCNTAGSS MWQLPFGVWA VPX
Symptoms        Herpes simplex virus encephalitis
Sex             XY
Ethnic origin   Caucasoid; French
Parents         Consanguineous
//

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Last modified 25.03.2011