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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