Database GFI1base
Version 1.2
File gfi1pub.html
Date 21-Aug-2008
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/GFI1base/
FTP ftp://protein.uta.fi/pub/gfi1pub.dat
IDR factfile http://bioinf.uta.fi/xml/idr/ff/FF85.xml
Gene GFI1
Disease SCN; NI-CINA
OMIM 600871
GDB 389574
Sequence IDRefSeq:D0037; IDRefSeq:C0037; UniProt:Q99684
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID S36N(1); standard; MUTATION;
Accession G0005
Systematic name g.4502G>A, c.107G>A, r.107g>a, p.Ser36Asn
Original code patient
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 09-May-2008 (Rel. 1, Created)
Date 09-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17096407
RefAuthors Hochberg, J. C., Miron, P. M., Hay, B. N., Woda, B. A.,
RefAuthors Wang, S. A., Richert-Przygonska, M., Aprikyan, A. A.,
RefAuthors Newburger, P. E.
RefTitle Mosaic tetraploidy and transient GFI1 mutation in a
RefTitle patient with severe chronic neutropenia.
RefLoc Pediatr Blood Cancer:630-632 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0037: 4502
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0037; GI:1698691; GFI1C: 374
Feature /codon: agc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q99684; GFI1_HUMAN: 36
Feature /change: S -> N
Diagnosis SCN
Symptoms upper respiratory infections, cellulitis, sinusitis, otitis
Symptoms media, mastoiditis, typhlitis
Age 2
Sex XY
Family history Inherited
Comment Patient has mosaic tetraploidy
//
ID N382S(1a); standard; MUTATION;
Accession G0001
Systematic name g.11730A>G, c.1145A>G, r.1145a>g, p.Asn382Ser
Description A point mutation in the exon 7 leading to an amino acid
Description change
Date 20-Feb-2004 (Rel. 1, Created)
Date 20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12778173
RefAuthors Person, R. E., Li, F. Q., Duan, Z., Benson, K. F.,
RefAuthors Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman,
RefAuthors C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T.,
RefAuthors Grimes, H. L., Horwitz, M.
RefTitle Mutations in proto-oncogene GFI1 cause human neutropenia
RefTitle and target ELA2.
RefLoc Nat Genet 34:308-312 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0037: 11730
Feature /change: a -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0037: 1412
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q99684; GFI1_HUMAN: 382
Feature /change: N -> S
Diagnosis SCN
Age 4 mo
Sex XY
Family history Inherited
Relative GFI1base; G0002 halfbrother
Relative GFI1base; G0003 father
//
ID N382S(1b); standard; MUTATION;
Accession G0002
Systematic name g.11730A>G, c.1145A>G, r.1145a>g, p.Asn382Ser
Description A point mutation in the exon 7 leading to an amino acid
Description change
Date 20-Feb-2004 (Rel. 1, Created)
Date 20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12778173
RefAuthors Person, R. E., Li, F. Q., Duan, Z., Benson, K. F.,
RefAuthors Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman,
RefAuthors C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T.,
RefAuthors Grimes, H. L., Horwitz, M.
RefTitle Mutations in proto-oncogene GFI1 cause human neutropenia
RefTitle and target ELA2.
RefLoc Nat Genet 34:308-312 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0037: 11730
Feature /change: a -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0037: 1412
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q99684; GFI1_HUMAN: 382
Feature /change: N -> S
Diagnosis SCN
Age 3
Sex XY
Family history Inherited
Relative GFI1base; G0001 halfbrother
Relative GFI1base; G0003 father
//
ID N382S(1c); standard; MUTATION;
Accession G0003
Systematic name g.11730A>G, c.1145A>G, r.1145a>g, p.Asn382Ser
Description A point mutation in the exon 7 leading to an amino acid
Description change
Date 20-Feb-2004 (Rel. 1, Created)
Date 20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12778173
RefAuthors Person, R. E., Li, F. Q., Duan, Z., Benson, K. F.,
RefAuthors Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman,
RefAuthors C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T.,
RefAuthors Grimes, H. L., Horwitz, M.
RefTitle Mutations in proto-oncogene GFI1 cause human neutropenia
RefTitle and target ELA2.
RefLoc Nat Genet 34:308-312 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0037: 11730
Feature /change: a -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0037: 1412
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q99684; GFI1_HUMAN: 382
Feature /change: N -> S
Diagnosis SCN
Symptoms recurrent pneumonia and pyogenic abscesses abating
Symptoms during childhood
Sex XY
Relative GFI1base; G0001 son
Relative GFI1base; G0002 son
//
ID K403R(1); standard; MUTATION;
Accession G0004
Systematic name g.11793A>G, c.1208A>G, r.1208a>g, p.Lys403Arg
Original code 66-year-old woman
Description A point mutation in the exon 7 leading to an amino acid
Description change
Date 20-Feb-2004 (Rel. 1, Created)
Date 20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12778173
RefAuthors Person, R. E., Li, F. Q., Duan, Z., Benson, K. F.,
RefAuthors Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman,
RefAuthors C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T.,
RefAuthors Grimes, H. L., Horwitz, M.
RefTitle Mutations in proto-oncogene GFI1 cause human neutropenia
RefTitle and target ELA2.
RefLoc Nat Genet 34:308-312 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0037: 11793
Feature /change: a -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0037: 1475
Feature /codon: aag -> agg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q99684; GFI1_HUMAN: 403
Feature /change: K -> R
Diagnosis NI-CINA
Sex XX
//
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