Database FCGR1Abase
Version 1.0
File fcgr1apub.html
Date 25-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/FCGR1Abase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF132.html
Gene FCGR1A
Disease CD64 deficiency
OMIM 146760
GDB 135911
Sequence IDRefSeq:D0032; IDRefSeq:C0032; UniProt:P12314
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R92X(1a),R92X(1a); standard; MUTATION; Ig-C2-1,Ig-C2-1
Accession F0001
Systematic name Allele 1 and 2: g.2493C>T, c.274C>T, r.274c>u, p.Arg92X
Original code N1
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description a premature stop codon in the Ig-C2-1 domain
Date 23-Aug-2004 (Rel. 1, Created)
Date 23-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7533186
RefAuthors van de Winkel, J. G., de Wit, T. P., Ernst, L. K., Capel,
RefAuthors P. J., Ceuppens, J. L.
RefTitle Molecular basis for a familial defect in phagocyte
RefTitle expression of igG receptor I (CD64).
RefLoc J Immunol 154:2896-2903 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
Symptoms IgG2a anti-CD3 nonresponder
Sex XX
Ethnic origin Caucasoid; Belgium
Relative FCGR1Abase; F0002 sister
Relative FCGR1Abase; F0003 sister
Relative FCGR1Abase; F0004 sister
//
ID R92X(1b),R92X(1b); standard; MUTATION; Ig-C2-1,Ig-C2-1
Accession F0002
Systematic name Allele 1 and 2: g.2493C>T, c.274C>T, r.274c>u, p.Arg92X
Original code N2
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description a premature stop codon in the Ig-C2-1 domain
Date 23-Aug-2004 (Rel. 1, Created)
Date 23-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7533186
RefAuthors van de Winkel, J. G., de Wit, T. P., Ernst, L. K., Capel,
RefAuthors P. J., Ceuppens, J. L.
RefTitle Molecular basis for a familial defect in phagocyte
RefTitle expression of igG receptor I (CD64).
RefLoc J Immunol 154:2896-2903 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
Symptoms IgG2a anti-CD3 nonresponder
Sex XX
Ethnic origin Caucasoid; Belgium
Relative FCGR1Abase; F0001 sister
Relative FCGR1Abase; F0003 sister
Relative FCGR1Abase; F0004 sister
//
ID R92X(1c),R92X(1c); standard; MUTATION; Ig-C2-1,Ig-C2-1
Accession F0003
Systematic name Allele 1 and 2: g.2493C>T, c.274C>T, r.274c>u, p.Arg92X
Original code N3
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description a premature stop codon in the Ig-C2-1 domain
Date 23-Aug-2004 (Rel. 1, Created)
Date 23-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7533186
RefAuthors van de Winkel, J. G., de Wit, T. P., Ernst, L. K., Capel,
RefAuthors P. J., Ceuppens, J. L.
RefTitle Molecular basis for a familial defect in phagocyte
RefTitle expression of igG receptor I (CD64).
RefLoc J Immunol 154:2896-2903 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
Symptoms IgG2a anti-CD3 nonresponder
Sex XX
Ethnic origin Caucasoid; Belgium
Relative FCGR1Abase; F0001 sister
Relative FCGR1Abase; F0002 sister
Relative FCGR1Abase; F0004 sister
//
ID R92X(1d),R92X(1d); standard; MUTATION; Ig-C2-1,Ig-C2-1
Accession F0004
Systematic name Allele 1 and 2: g.2493C>T, c.274C>T, r.274c>u, p.Arg92X
Original code N4
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description a premature stop codon in the Ig-C2-1 domain
Date 23-Aug-2004 (Rel. 1, Created)
Date 23-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7533186
RefAuthors van de Winkel, J. G., de Wit, T. P., Ernst, L. K., Capel,
RefAuthors P. J., Ceuppens, J. L.
RefTitle Molecular basis for a familial defect in phagocyte
RefTitle expression of igG receptor I (CD64).
RefLoc J Immunol 154:2896-2903 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0032: 2493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0032: 286
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P12314; FCGR1_HUMAN: 92
Feature /change: R -> X
Feature /domain: Ig-C2-1
Symptoms IgG2a anti-CD3 nonresponder
Sex XX
Ethnic origin Caucasoid; Belgium
Relative FCGR1Abase; F0001 sister
Relative FCGR1Abase; F0002 sister
Relative FCGR1Abase; F0003 sister
//
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