Database RAC2base
Version 1.0
File rac2pub.txt
Date 18-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/RAC2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF123.html
Gene RAC2
Disease Neutrophil immunodeficiency syndrome
OMIM 602049
GDB 134411
Sequence IDRefSeq:D0070; IDRefSeq:C0070; UniProt:P15153
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID D57N(1),=; standard; MUTATION;
Accession R0001
Systematic name Allele 1 and 2: g.12413G>A, c.169G>A, r.169g>a, p.Asp57Asn
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change
Date 04-Nov-2003 (Rel. 1, Created)
Date 04-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10758162
RefAuthors Ambruso, D. R., Knall, C., Abell, A. N., Panepinto, J.,
RefAuthors Kurkchubasche, A., Thurman, G., Gonzalez-Aller, C.,
RefAuthors Hiester, A., deBoer, M., Harbeck, R. J., Oyer, R.,
RefAuthors Johnson, G. L., Roos, D.
RefTitle Human neutrophil immunodeficiency syndrome is associated
RefTitle with an inhibitory rac2 mutation.
RefLoc Proc Natl Acad Sci U S A 97:4654-4659 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10961859
RefAuthors Williams, D. A., Tao, W., Yang, F., Kim, C., Gu, Y.,
RefAuthors Mansfield, P., Levine, J. E., Petryniak, B., Derrow, C.
RefAuthors W., Harris, C., Jia, B., Zheng, Y., Ambruso, D. R., Lowe,
RefAuthors J. B., Atkinson, S. J., Dinauer, M. C., Boxer, L.
RefTitle Dominant negative mutation of the hematopoietic-specific
RefTitle rho GTPase, rac2, is associated with a human phagocyte
RefTitle immunodeficiency.
RefLoc Blood 96:1646-1654 (2000)
RefNumber [3]
RefCrossRef PUBMED; 11445809
RefAuthors Kurkchubasche, A. G., Panepinto, J. A., Tracy, T. F.,
RefAuthors Thurman, G. W., Ambruso, D. R.
RefTitle Clinical features of a human rac2 mutation: a complex
RefTitle neutrophil dysfunction disease.
RefLoc J Pediatr 139:141-147 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0070: 12413
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0070: 286
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15153; RAC2_HUMAN: 57
Feature /change: D -> N
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0070: 12413
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0070: 286
Feature /codon: gac -> aac; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15153; RAC2_HUMAN: 57
Feature /change: D -> N
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa;
Symptoms Escherichia coli;
Symptoms Stenotrophomonas maltophilia;
Symptoms Other; Enterobacter cloacae
Symptoms Other symptoms: perirectal abscess and failure of the
Symptoms umbilical stump to involute, recurrent perirectal
Symptoms abscesses, an infected urachal cyst, a failure to heal
Symptoms surgical wounds, and the absence of pus in infected areas,
Symptoms leucocytosis, neutrophilia, hypochromic anemia
Age 5 weeks
Sex XY
Parents Non-consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Donor: matched sibling
Treatment Outcome: alive and well
Comment D57N mutant behaves in a dominant-negative fashion at the
Comment cellular level
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