Database FCGR3Abase
Version 1.0
File fcgr3apub.html
Date 15-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/FCGR3Abase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF135.html
Gene FCGR3A
Disease Natural killer cell deficiency
OMIM 146740
GDB 119904
Sequence IDRefSeq:D0033; IDRefSeq:C0033; UniProt:P08637
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID L66H(1),L66H(1); standard; MUTATION; IG-C2T1,IG-C2T1
Accession F0001
Systematic name Allele 1 and 2: g.2217T>A, c.197T>A, r.197u>a, p.Leu66His
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the IG-C2T1 domain
Date 08-Dec-2003 (Rel. 1, Created)
Date 08-Dec-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8608639
RefAuthors Jawahar, S., Moody, C., Chan, M., Finberg, R., Geha, R.,
RefAuthors Chatila, T.
RefTitle Natural killer (NK) cell deficiency associated with an
RefTitle epitope-deficient fc receptor type IIIA (CD16-II).
RefLoc Clin Exp Immunol 103:408-413 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0033: 2217
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0033: 220
Feature /codon: ctc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08637; FCG3A_HUMAN: 66
Feature /change: L -> H
Feature /domain: IG-C2T1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0033: 2217
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0033: 220
Feature /codon: ctc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08637; FCG3A_HUMAN: 66
Feature /change: L -> H
Feature /domain: IG-C2T1
Symptoms Infections:
Symptoms Herpes simplex; Streptococcus pneumoniae
Symptoms Other: recurrent otitis media, recurrent sinusitis,
Symptoms stomatitis and vesicular lesions on her thumb
Sex XX
Treatment IVIG: constant
Treatment Still on IVIG
Treatment response: good
Treatment Acyclovir prophylaxis: constant
Treatment Still on acyclovir
Treatment response: good
//
ID L66H(2a),L66H(2a); standard; MUTATION; IG-C2T1,IG-C2T1
Accession F0002
Systematic name Allele 1 and 2: g.2217T>A, c.197T>A, r.197u>a, p.Leu66His
Original code 3-year-old boy
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the IG-C2T1 domain
Date 08-Dec-2003 (Rel. 1, Created)
Date 08-Dec-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8874200
RefAuthors de Vries, E., Koene, H. R., Vossen, J. M., Gratama, J. W.,
RefAuthors von dem Borne, A. E., Waaijer, J. L., Haraldsson, A., de
RefAuthors Haas, M., van Tol, M. J.
RefTitle Identification of an unusual fc gamma receptor IIIa (CD16)
RefTitle on natural killer cells in a patient with recurrent
RefTitle infections.
RefLoc Blood 88:3022-3027 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0033: 2217
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0033: 220
Feature /codon: ctc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08637; FCG3A_HUMAN: 66
Feature /change: L -> H
Feature /domain: IG-C2T1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0033: 2217
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0033: 220
Feature /codon: ctc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08637; FCG3A_HUMAN: 66
Feature /change: L -> H
Feature /domain: IG-C2T1
Symptoms Infections:
Symptoms EBV infection; Varicella zoster; BCG-related problems
Symptoms Upper respiratory tract infections
Symptoms Other: wheezing and nocturnal dyspnea, fever and malaise
Sex XY
Ethnic origin Caucasoid; Turkish/Dutch-Norwegian
Parents Non-consanguineous
Relative FCGR3Abase; F0003 brother
Treatment Acyclovir prophylaxis: intermittent
//
ID L66H(2b),L66H(2b); standard; MUTATION; IG-C2T1,IG-C2T1
Accession F0003
Systematic name Allele 1 and 2: g.2217T>A, c.197T>A, r.197u>a, p.Leu66His
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the IG-C2T1 domain
Date 08-Dec-2003 (Rel. 1, Created)
Date 08-Dec-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8874200
RefAuthors de Vries, E., Koene, H. R., Vossen, J. M., Gratama, J. W.,
RefAuthors von dem Borne, A. E., Waaijer, J. L., Haraldsson, A., de
RefAuthors Haas, M., van Tol, M. J.
RefTitle Identification of an unusual fc gamma receptor IIIa (CD16)
RefTitle on natural killer cells in a patient with recurrent
RefTitle infections.
RefLoc Blood 88:3022-3027 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0033: 2217
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0033: 220
Feature /codon: ctc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08637; FCG3A_HUMAN: 66
Feature /change: L -> H
Feature /domain: IG-C2T1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0033: 2217
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0033: 220
Feature /codon: ctc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08637; FCG3A_HUMAN: 66
Feature /change: L -> H
Feature /domain: IG-C2T1
Symptoms Infections:
Symptoms Upper respiratory tract infections
Sex XY
Ethnic origin Caucasoid; Turkish/Dutch-Norwegian
Parents Non-consanguineous
Relative FCGR3Abase; F0002 brother
//
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