Database CEBPEbase
Version 1.0
File cebpepub.html
Date 14-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/CEBPEbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF112.html
Gene CEBPE
Disease Neutrophil-specific granule deficiency
OMIM 600749
GDB 132660
Sequence IDRefSeq:D0019; IDRefSeq:C0019; UniProt:Q15744
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #P83X202(1),#P83X202(1); standard; MUTATION;
Accession C0001
Systematic name Allele 1 and 2: g.2063_2067delTGACC, c.249_253delTGACC,
Systematic name r.249_253delugacc, p.Asp84fsX118
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 1 leading to a premature stop codon
Date 05-Nov-2003 (Rel. 1, Created)
Date 05-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10359588
RefAuthors Lekstrom-Himes, J. A., Dorman, S. E., Kopar, P., Holland,
RefAuthors S. M., Gallin, J. I.
RefTitle Neutrophil-specific granule deficiency results from a
RefTitle novel mutation with loss of function of the transcription
RefTitle factor CCAAT/enhancer binding protein epsilon.
RefLoc J Exp Med 189:1847-1852 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0019: 2063..2067
Feature /change: -tgacc
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0019: 423..427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q15744; CEBPE_HUMAN: 83..85
Feature /change: PDP ->
Feature /change: PSALCLPSTY LRPRQEGAGA WHLQQPRELR PQGCGGEGGA
Feature /change: PGARGQPSCQ PRQLQSPAVP SGTLWADSHA PAPNSGSTRP
Feature /change: ASARSQGPFG HCRTPLQSPP EGALPGWPLT QGQEGSEQRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0019: 2063..2067
Feature /change: -tgacc
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0019: 423..427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q15744; CEBPE_HUMAN: 83..85
Feature /change: PDP ->
Feature /change: PSALCLPSTY LRPRQEGAGA WHLQQPRELR PQGCGGEGGA
Feature /change: PGARGQPSCQ PRQLQSPAVP SGTLWADSHA PAPNSGSTRP
Feature /change: ASARSQGPFG HCRTPLQSPP EGALPGWPLT QGQEGSEQRX
Symptoms Other symptoms: patient died from complications of
Symptoms pneumonia at age 20
Sex XY
//
ID @K170X204(1),@K170X204(1); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.2323dupA, c.509dupA, r.509dupa,
Systematic name p.Ala171fsX33
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 1 leading to a premature stop codon
Date 05-Nov-2003 (Rel. 1, Created)
Date 05-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11313242
RefAuthors Gombart, A. F., Shiohara, M., Kwok, S. H., Agematsu, K.,
RefAuthors Komiyama, A., Koeffler, H. P.
RefTitle Neutrophil-specific granule deficiency: homozygous
RefTitle recessive inheritance of a frameshift mutation in the gene
RefTitle encoding transcription factor CCAAT/enhancer binding
RefTitle protein--epsilon.
RefLoc Blood 97:2561-2567 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0019: 2324
Feature /change: +a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0019: 684
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q15744; CEBPE_HUMAN: 170
Feature /change: K -> KGPFGHCRTP LQSPPEGALP GWPLTQGQEG SEQRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0019: 2324
Feature /change: +a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0019: 684
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q15744; CEBPE_HUMAN: 170
Feature /change: K -> KGPFGHCRTP LQSPPEGALP GWPLTQGQEG SEQRX
Symptoms Other bacterial infections:
Symptoms Other; recurrent pyogenic infections, such as otitis
Symptoms media, skin abscesses, and pneumonia since infancy
Sex XY
//
ID V218A(1),?; standard; MUTATION;
Accession C0003
Systematic name Allele 1: g.3225T>C, c.653T>C, r.653u>c, p.Val218Ala
Original code 47-year-old man
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-May-2007 (Rel. 1, Created)
Date 08-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17244686
RefAuthors Khanna-Gupta, A., Sun, H., Zibello, T., Lee, H. M., Dahl,
RefAuthors R., Boxer, L. A., Berliner, N.
RefTitle Growth factor independence-1 (gfi-1) plays a role in
RefTitle mediating specific granule deficiency (SGD) in a patient
RefTitle lacking a gene-inactivating mutation in the C/EBP{epsilon}
RefTitle gene.
RefLoc Blood:4181-4190 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0019: 3225
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0019: 827
Feature /codon: gtg -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15744; CEBPE_HUMAN: 218
Feature /change: V -> A
//
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