Database NCF1base
Version 2.1
File ncf1pub.html
Date 04-Aug-2014
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/NCF1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF40.html
Gene NCF1
Disease autosomal recessive chronic granulomatous disease(CGD),
Disease deficiency of p47 phox
OMIM 233700
GDB 120222
Sequence IDRefSeq:D0099; IDRefSeq:C0099; UniProt:P14598
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #V25X51(1),#E168X198(1); standard; MUTATION; SH3 1,PX
Accession N0002
Systematic name Allele 1: g.9966delG, c.502delG, r.502delg, p.Glu168fsX31
Systematic name Allele 2: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Description Allele 1: A frame shift deletion mutation in the exon 6
Description leading to a premature stop codon in the SH3I domain
Description Allele 2: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 7678602
RefAuthors Volpp, B. D., Lin, Y.
RefTitle In vitro molecular reconstitution of the respiratory burst
RefTitle in B lymphoblasts from p47-phox-deficient chronic
RefTitle granulomatous disease.
RefLoc J Clin Invest 91:201-207 (1993)
RefNumber [2]
RefCrossRef PUBMED; 9075578
RefAuthors Cross, A. R., Curnutte, J. T., Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease.
RefLoc Blood Cells Mol Dis 22:268-270 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 9966
Feature /change: -g
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 514
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 168
Feature /change: E -> RRPRAPRWLC PRGTWWRSWR RARAVGGSVR X
Feature /domain: SH3I
Phenotype A47 0
Oxidase act. 0
//
ID #V25X51(2),#V25X51(2); standard; MUTATION; PX,PX
Accession N0004
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47 0 / Ab+
Sex XY
//
ID #V25X51(3),#V25X51(3); standard; MUTATION; PX,PX
Accession N0004
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
NBT-slide 0
Sex XY
Ethnic origin Caucasian (Polish)
//
ID #V25X51(4),#V25X51(4); standard; MUTATION; PX,PX
Accession N0006
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
NBT-slide 0
Sex XY
Ethnic origin Caucasian (Polish)
//
ID #V25X51(5),#V25X51(5); standard; MUTATION; PX,PX
Accession N0007
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47 0/R
Sex XY
//
ID #V25X51(6),#V25X51(6); standard; MUTATION; PX,PX
Accession N0009
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
Comment Mother, sister and one nephew are carriers. Other nephew
Comment and father are normal.
//
ID #V25X51(7),#V25X51(7); standard; MUTATION; PX,PX
Accession N0010
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XX
//
ID #V25X51(8),#V25X51(8); standard; MUTATION; PX,PX
Accession N0011
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47 /
Sex XY
//
ID #V25X51(9),#V25X51(9); standard; MUTATION; PX,PX
Accession N0012
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
//
ID #V25X51(10),#V25X51(10); standard; MUTATION; PX,PX
Accession N0013
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XX
//
ID #V25X51(11),#V25X51(11); standard; MUTATION; PX,PX
Accession N0014
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
//
ID #V25X51(12),#V25X51(12); standard; MUTATION; PX,PX
Accession N0015
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XX
Family history Both parents are carriers
//
ID #V25X51(13),#V25X51(13); standard; MUTATION; PX,PX
Accession N0016
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XX
Relative NCF1base; N0017 brother
//
ID #V25X51(14),#V25X51(14); standard; MUTATION; PX,PX
Accession N0017
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
Relative NCF1base; N0016 sister
//
ID #V25X51(15),#V25X51(15); standard; MUTATION; PX,PX
Accession N0018
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
//
ID #V25X51(16),#V25X51(16); standard; MUTATION; PX,PX
Accession N0019
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XX
//
ID #V25X51(17),#V25X51(17); standard; MUTATION; PX,PX
Accession N0020
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
Ethnic origin Caucasian (Polish)
//
ID #V25X51(18),#V25X51(18); standard; MUTATION; PX,PX
Accession N0021
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Sex XX
//
ID #V25X51(19),#V25X51(19); standard; MUTATION; PX,PX
Accession N0021
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
//
ID #V25X51(20),#V25X51(20); standard; MUTATION; PX,PX
Accession N0022
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XX
Relative NCF1base; N0023 brother
//
ID #V25X51(21),#V25X51(21); standard; MUTATION; PX,PX
Accession N0023
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47
Sex XY
Relative NCF1base; N0022 sister
//
ID #V25X51(22a),Q91X(1a); standard; MUTATION; PX,PX
Accession N0027
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.6278C>T, c.271C>T, r.271c>u, p.Gln91X
Original code Family 1
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
RefNumber [2]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 6278
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 283
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 91
Feature /change: Q -> X
Feature /domain: PX
Phenotype A47
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid
Relative NCF1base; N0028 brother
Family history 1. father is carrier 2. mother is carrier
Symptoms Prolonged pneumonia with mild clinical symptoms (no
Symptoms coughing), colitis
//
ID #V25X51(22b),Q91X(1b); standard; MUTATION; PX,PX
Accession N0028
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.6278C>T, c.271C>T, r.271c>u, p.Gln91X
Original code Family 1
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
RefNumber [2]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 6278
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 283
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 91
Feature /change: Q -> X
Feature /domain: PX
Phenotype A47
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid
Relative NCF1base; N0027 sister
Family history 1. father is carrier 2. mother is carrier
Symptoms Anal fistulas;
Treatment Prophylaxis
//
ID #V25X51(24),Intron 1(1); standard; MUTATION; PX,
Accession N0031
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.1085G>A, c.72+1G>A, r.72+1g>a
Original code patient 5 ref [1]; patient 1 ref [2]
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the intron 1 leading to
Description aberrant splicing
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 3339133
RefAuthors Curnutte, J. T., Berkow, R. L., Roberts, R. L., Shurin, S.
RefAuthors B., Scott, P. J.
RefTitle Chronic granulomatous disease due to a defect in the
RefTitle cytosolic factor required for nicotinamide adenine
RefTitle dinucleotide phosphate oxidase activation.
RefLoc J Clin Invest 81:606-610 (1988)
RefNumber [2]
RefCrossRef PUBMED; 11133775
RefAuthors Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger,
RefAuthors P. E., Curnutte, J. T., Heyworth, P. G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by defects in NCF-1, the gene encoding the phagocyte p47-
RefTitle phox: mutations not arising in the NCF-1 pseudogenes.
RefLoc Blood 97:305-311 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 1085
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A47 0
Sex XX
//
ID #V25X51(25),Intron 1(2); standard; MUTATION; PX,
Accession N0032
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.1087G>T, c.72+3G>T, r.72+3g>u
Original code patient 2 ref [1]
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the intron 1 leading to
Description aberrant splicing
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133775
RefAuthors Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger,
RefAuthors P. E., Curnutte, J. T., Heyworth, P. G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by defects in NCF-1, the gene encoding the phagocyte p47-
RefTitle phox: mutations not arising in the NCF-1 pseudogenes.
RefLoc Blood 97:305-311 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 1087
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A47 0
Sex XX
//
ID #V25X51(26),G262S(1); standard; MUTATION; PX,SH3II
Accession N0033
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.12263G>A, c.784G>A, r.784g>a, p.Gly262Ser
Original code patient 3 ref [1]
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 8 leading to an
Description amino acid change in the SH3II domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133775
RefAuthors Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger,
RefAuthors P. E., Curnutte, J. T., Heyworth, P. G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by defects in NCF-1, the gene encoding the phagocyte p47-
RefTitle phox: mutations not arising in the NCF-1 pseudogenes.
RefLoc Blood 97:305-311 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 12263
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 796
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 262
Feature /change: G -> S
Feature /domain: SH3II
Sex XY
//
ID #V25X51(27),R42Q(1); standard; MUTATION; PX,PX
Accession N0034
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.4299G>A, c.125G>A, r.125g>a, p.Arg42Gln
Original code patient 4 ref [1]
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the PX domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133775
RefAuthors Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger,
RefAuthors P. E., Curnutte, J. T., Heyworth, P. G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by defects in NCF-1, the gene encoding the phagocyte p47-
RefTitle phox: mutations not arising in the NCF-1 pseudogenes.
RefLoc Blood 97:305-311 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 4299
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 137
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 42
Feature /change: R -> Q
Feature /domain: PX
Phenotype A47 0
Sex XY
//
ID #V25X51(28),#V25X51(28); standard; MUTATION; PX,PX
Accession N0040
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient 13293
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15577746
RefAuthors Jurkowska, M., Kurenko-Deptuch, M., Bal, J., Roos, D.
RefTitle The search for a genetic defect in polish patients with
RefTitle chronic granulomatous disease.
RefLoc Arch Immunol Ther Exp (Warsz):441-446 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47 0
Diagnosis Moderate chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Poland
//
ID #V25X51(29),F118X(1); standard; MUTATION; PX,PX
Accession N0041
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.6360_6361delinsAA, c.353_354delinsAA,
Systematic name r.353_354delinsaa, p.Phe118X
Original code Patient 14009 ref.[1]; Family 3 ref.[2]
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A complex mutation in the exon 4 leading to a
Description premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15577746
RefAuthors Jurkowska, M., Kurenko-Deptuch, M., Bal, J., Roos, D.
RefTitle The search for a genetic defect in polish patients with
RefTitle chronic granulomatous disease.
RefLoc Arch Immunol Ther Exp (Warsz):441-446 (2004)
RefNumber [2]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0099: 6360..6361
Feature /change: tc -> aa
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 365..366
Feature /codon: ttc -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 118
Feature /change: F -> X
Feature /domain: PX
Phenotype A47 0
Diagnosis Moderate chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Poland
//
ID #V25X51(30a),#V25X51(30a); standard; MUTATION; PX,PX
Accession N0042
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient A1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16123991
RefAuthors Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A.,
RefAuthors Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de
RefAuthors Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A.,
RefAuthors Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto,
RefAuthors A.
RefTitle Chronic granulomatous disease in latin american patients:
RefTitle clinical spectrum and molecular genetics.
RefLoc Pediatr Blood Cancer:243-252 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid/Negroid; Brazil
Relative NCF1base; N0043 brother
Symptoms Three episodes of skin infection and protracted pneumonia,
Symptoms Bartolin gland infection
Treatment Prophylaxis; sulfamethoxazole/trimethoprim and itraconazole
//
ID #V25X51(30b),#V25X51(30b); standard; MUTATION; PX,PX
Accession N0043
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient A2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16123991
RefAuthors Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A.,
RefAuthors Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de
RefAuthors Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A.,
RefAuthors Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto,
RefAuthors A.
RefTitle Chronic granulomatous disease in latin american patients:
RefTitle clinical spectrum and molecular genetics.
RefLoc Pediatr Blood Cancer:243-252 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid/Negroid; Brazil
Relative NCF1base; N0042 sister
Symptoms Recurrent skin infections, pneumonia
Treatment Prophylaxis; sulfamethoxazole/trimethoprim and itraconazole
//
ID #V25X51(31a),#V25X51(31a); standard; MUTATION; PX,PX
Accession N0044
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient B1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16123991
RefAuthors Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A.,
RefAuthors Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de
RefAuthors Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A.,
RefAuthors Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto,
RefAuthors A.
RefTitle Chronic granulomatous disease in latin american patients:
RefTitle clinical spectrum and molecular genetics.
RefLoc Pediatr Blood Cancer:243-252 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Mexico
Relative NCF1base; N0045 sister
Symptoms Recurrent, pneumonia since age 4 years
Treatment Prophylaxis; Gamma-interferon;
Treatment sulfamethoxazole/trimethoprim and itraconazole
//
ID #V25X51(31b),#V25X51(31b); standard; MUTATION; PX,PX
Accession N0045
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient B2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16123991
RefAuthors Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A.,
RefAuthors Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de
RefAuthors Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A.,
RefAuthors Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto,
RefAuthors A.
RefTitle Chronic granulomatous disease in latin american patients:
RefTitle clinical spectrum and molecular genetics.
RefLoc Pediatr Blood Cancer:243-252 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Mexico
Relative NCF1base; N0044 sister
Symptoms Recurrent, pneumonia since age 7 years, chronic
Symptoms lymphadenitis
Treatment Prophylaxis; Gamma-interferon;
Treatment sulfamethoxazole/trimethoprim and itraconazole
//
ID #V25X51(32),#V25X51(32); standard; MUTATION; PX,PX
Accession N0046
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient C
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16123991
RefAuthors Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A.,
RefAuthors Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de
RefAuthors Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A.,
RefAuthors Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto,
RefAuthors A.
RefTitle Chronic granulomatous disease in latin american patients:
RefTitle clinical spectrum and molecular genetics.
RefLoc Pediatr Blood Cancer:243-252 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Negroid; Brazil
Symptoms Pneumonia due to multiresistant Staphylococcus aureus,
Symptoms liver abscess
Treatment sulfamethoxazole/trimethoprim and itraconazole
//
ID #V25X51(33),#V25X51(33); standard; MUTATION; PX,PX
Accession N0047
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient D
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16123991
RefAuthors Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A.,
RefAuthors Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de
RefAuthors Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A.,
RefAuthors Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto,
RefAuthors A.
RefTitle Chronic granulomatous disease in latin american patients:
RefTitle clinical spectrum and molecular genetics.
RefLoc Pediatr Blood Cancer:243-252 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Brazil
Symptoms Recurrent pulmonary infections starting in his first year
Symptoms of life, recurrent skin infections, otitis, sinusitis, and
Symptoms liver abscesses
Treatment sulfamethoxazole/trimethoprim and itraconazole
//
ID #V25X51(34),#V25X51(34); standard; MUTATION; PX,PX
Accession N0048
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient E
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16123991
RefAuthors Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A.,
RefAuthors Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de
RefAuthors Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A.,
RefAuthors Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto,
RefAuthors A.
RefTitle Chronic granulomatous disease in latin american patients:
RefTitle clinical spectrum and molecular genetics.
RefLoc Pediatr Blood Cancer:243-252 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid/Negroid; Brazil
Symptoms Recurrent respiratory infections, pneumonia, chronic otitis
Symptoms and sinusitis, recurrent tonsillitis and aphthous ulcers
Treatment sulfamethoxazole/trimethoprim and itraconazole
//
ID #V25X51(35),#V25X51(35); standard; MUTATION; PX,PX
Accession N0049
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code CGD-84
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16937026
RefAuthors El Kares, R., Barbouche, M. R., Elloumi-Zghal, H.,
RefAuthors Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N.,
RefAuthors Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S.,
RefAuthors Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle Genetic and mutational heterogeneity of autosomal
RefTitle recessive chronic granulomatous disease in tunisia.
RefLoc J Hum Genet:887-895 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Tunisian
//
ID #V25X51(36),#V25X51(36); standard; MUTATION; PX,PX
Accession N0050
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code CGD-285
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16937026
RefAuthors El Kares, R., Barbouche, M. R., Elloumi-Zghal, H.,
RefAuthors Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N.,
RefAuthors Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S.,
RefAuthors Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle Genetic and mutational heterogeneity of autosomal
RefTitle recessive chronic granulomatous disease in tunisia.
RefLoc J Hum Genet:887-895 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Tunisian
//
ID #V25X51(37),#V25X51(37); standard; MUTATION; PX,PX
Accession N0051
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code CGD-109
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16937026
RefAuthors El Kares, R., Barbouche, M. R., Elloumi-Zghal, H.,
RefAuthors Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N.,
RefAuthors Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S.,
RefAuthors Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle Genetic and mutational heterogeneity of autosomal
RefTitle recessive chronic granulomatous disease in tunisia.
RefLoc J Hum Genet:887-895 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Tunisian
//
ID #V25X51(38),#V25X51(38); standard; MUTATION; PX,PX
Accession N0052
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code CGD-250
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16937026
RefAuthors El Kares, R., Barbouche, M. R., Elloumi-Zghal, H.,
RefAuthors Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N.,
RefAuthors Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S.,
RefAuthors Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle Genetic and mutational heterogeneity of autosomal
RefTitle recessive chronic granulomatous disease in tunisia.
RefLoc J Hum Genet:887-895 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Tunisian
//
ID #V25X51(39),#V25X51(39); standard; MUTATION; PX,PX
Accession N0053
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code CGD-350
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16937026
RefAuthors El Kares, R., Barbouche, M. R., Elloumi-Zghal, H.,
RefAuthors Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N.,
RefAuthors Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S.,
RefAuthors Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle Genetic and mutational heterogeneity of autosomal
RefTitle recessive chronic granulomatous disease in tunisia.
RefLoc J Hum Genet:887-895 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Tunisian
//
ID #V25X51(41a),C111X(1a); standard; MUTATION; PX,PX
Accession N0056
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.6340T>A, c.333T>A, r.333u>a, p.Cys111X
Original code Family 2, II:4
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the PX domain
Date 09-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 6340
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 345
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 111
Feature /change: C -> X
Feature /domain: PX
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid
Relative NCF1base; N0057 brother
Relative NCF1base; N0058 brother
Symptoms Anemia, thrombocytopenia, splenomegaly, cervical septic
Symptoms lymphadenitis, inflammatory bowel disease (leading to a
Symptoms subtotal colon resection), hypertension, myocardial and
Symptoms renal failure
Treatment A combined allogeneic stem cell and renal transplantation
Treatment with a reduced conditioning regimen, using organs from her
Treatment human leukocyte antigen (HLA)-identical sister, was
Treatment succesfully performed
//
ID #V25X51(41b),C111X(1b); standard; MUTATION; PX,PX
Accession N0057
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.6340T>A, c.333T>A, r.333u>a, p.Cys111X
Original code Family 2, II:1
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the PX domain
Date 09-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 6340
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 345
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 111
Feature /change: C -> X
Feature /domain: PX
Phenotype A47 0
Diagnosis Mild chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid
Relative NCF1base; N0056 sister
Relative NCF1base; N0058 brother
Symptoms No overt clinical symptoms of CGD
//
ID #V25X51(41c),C111X(1c); standard; MUTATION; PX,PX
Accession N0058
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.6340T>A, c.333T>A, r.333u>a, p.Cys111X
Original code Family 2, II:5
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the PX domain
Date 09-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 6340
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 345
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 111
Feature /change: C -> X
Feature /domain: PX
Phenotype A47 0
Diagnosis Mild chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid
Relative NCF1base; N0056 sister
Relative NCF1base; N0057 brother
//
ID #V25X51(43),W193X(6); standard; MUTATION; PX,SH3I
Accession N0060
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Original code Family 4
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the PX domain
Date 09-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Turkey
Symptoms Bilateral bronchopneumonia of the lower lobes,
Treatment Gamma-interferon; Prophylactic itraconazole and
Treatment trimethoprim-sulfamethoxazole
//
ID #V25X51(44),Intron 2(1); standard; MUTATION; PX,
Accession N0061
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.5779_8636del
Original code Family 5
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A deletion starting in intron 2 and ending in Description intron 5 leading to aberrant splicing
Date 09-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 5779..8636
Feature /change: -tgagtagctg ggattacagg catgtgccac cactcccggc
Feature /change: taatttttgt atttttagta gagacggggt ttcaccacgt
Feature /change: tggccaggct ggtcttgaac tcctgacctc aagtgatcca
Feature /change: cccacgacag cctcccaaag tgctgggatt acaggcgtga
Feature /change: gccaccatgc tcggcctttt aggtggtttt gagaggtatt
Feature /change: taggtcactt ccaatctcgt gattttccaa gtgttgtaaa
Feature /change: ctacaaatat tccttcacgt cttcttgtct ttttaatgtt
Feature /change: tagaaaacct taaaagaaat gttccctatt gaggcagggg
Feature /change: cgatcaatcc agagaacagg atcatccccc acctcccagg
Feature /change: tgagcacggg gctgagccgc ctgtcagggg gtcattggcg
Feature /change: ggggctcacc tgccctccca gcccctctcg ggcttgacct
Feature /change: catgttctct ggtgccagct cccaagtggt ttgacgggca
Feature /change: gcgggccgcc gagaaccgcc agggcacact taccgagtac
Feature /change: tgcggcacgc tcatgagcct gcccaccaag atctcccgct
Feature /change: gtccccacct cctcgacttc ttcaaggtgc gccctgatga
Feature /change: cctcaagctc cccacggaca accagtgagt gaacttttca
Feature /change: ccctgccagg tgggagaggg aaggaggggt gggactttct
Feature /change: gtgttttgca gatgaggaaa ccaaggctca gagagggaaa
Feature /change: gccaccttcc cagagccaca cagccagaaa gaggaggcaa
Feature /change: attccacctc cggcccctgt gaccccgcca agcctccacc
Feature /change: ttaatctttc acacctcagg gcactggggg aagcactcgg
Feature /change: ggctggaggt tcaaagtcct gggtcctcat cctgacatta
Feature /change: tggccacctg gccatgggac ctggagccag tcaccactgc
Feature /change: tctctgaatg caggttctcc atttctataa tgggcagtga
Feature /change: ggatcagatg aagcattggg tgtcttgcgg agccccccag
Feature /change: aaggatgtgg ggttgatgcc tctgctaagt gctgagcatg
Feature /change: tctggggtct cctgtaccca ggaccctgtg tggaaggcac
Feature /change: ctgagaggct gagggagctc caggcaggct ggggaagtcc
Feature /change: ccttctccac tcctctctgg tcactgaagc tcgaagtggg
Feature /change: gagcatgagg acaggacgtt accccttgtc aaggcaccca
Feature /change: ggctgccaag acagagacaa gcagcattgc tccggccagc
Feature /change: acttattgac gcttgaaggt gtcccctggc ccaaggaagg
Feature /change: gcagttatca tcagcccggg aggcggggga aggatggact
Feature /change: ctgcagtggg gtccgctcct cattgcctgc tctctcaggg
Feature /change: ctccagaagg aggaagaggc cgggcacagt ggctcacacc
Feature /change: tataatccca gcactttgga aggtcgaggt gggcagatca
Feature /change: cctgaggttg ggagtttgag accagcctgg ccaacatggt
Feature /change: gaaaccccat ctctaccaaa aatataaaaa tttagtcagg
Feature /change: catggtggtg tgcgcttgta atcccagcta cttgggaggc
Feature /change: cgaggcagga gaatcgcttg aacccgggag gcagaggttg
Feature /change: cagtgagctg agactgcgcc actgcactcc agcctgggtg
Feature /change: acagagcgag actctgtcta agaaaaaaaa aagaaaagaa
Feature /change: gaaagaagat ggcctgggag cccgcaagag cattttccag
Feature /change: gcttagggca tcctttgggt ctgcagaagg ctatgcagtg
Feature /change: tcctcctcat gtccctccct tgggctgccc gagcagatcc
Feature /change: gcccgccccc atcacttcct gaagcccttc ctcagccagt
Feature /change: ccagttgctg tcttctctcc gcagtgcccc ttccctttcc
Feature /change: cgggtccctc ttctcttggg aagttcttct gcaggtctac
Feature /change: ccagtgcctc ttcttcctcc atgggaagcc aagggtctca
Feature /change: cccagactgt tctctcctca ggacaaaaaa gccagagaca
Feature /change: tacttgatgc ccaaagatgg caagagtacc gcgacaggtg
Feature /change: agaggacggg gggcagccgg cggggggggg acaccctgag
Feature /change: gagacccaga gtgttcaggg aatggagcag gggctgggag
Feature /change: caggctggga gggctcacag ctaccctgct gaagaattgg
Feature /change: gtctttgggc cgggtgcggt tgctcatgcc tgtaatccca
Feature /change: gcagtttggg aggccgaggc aggtggatca cttgaggtca
Feature /change: ggagtttgag accagcctgg ccaacatgga gaaaccctgt
Feature /change: ctctactaaa aatccaaatt agccaggcgt ggtgacaggt
Feature /change: gcctgtagtc ccagccactt gggaggctga ggcaggagaa
Feature /change: ttgcttgaac ccggaagacg gagtttgcag tgagccgaga
Feature /change: tcgtgccact gcactccagc ctgggcagca gagccagact
Feature /change: ccatctcaaa aaaaaaaaaa aaaaaaagaa gaattgggtc
Feature /change: tttggaaggt ccctggagac tgaaaggagc cctttgcagg
Feature /change: tggcagtgca gagaccagcg cagacccttg ctactggcag
Feature /change: ccgggggagt gtttgcggct gaatgaatga acaggttttg
Feature /change: gagggcagcg tggccttcag aggcgatgca gggctgtggc
Feature /change: agtttctaat acttattgca cagtcactgc taataacaat
Feature /change: aataataata atacctaaca ttaatggagt gcttactctg
Feature /change: tgccagccac tattttgttt ttgttgtttt cagtgacagg
Feature /change: gtctcgctct gttgcccagg ctagagtgaa gtggtgtgat
Feature /change: catagctcac tacagcctcg acctcctggg ctgaagcgat
Feature /change: cctcccacct cagcctcc
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 166..463
Feature /change: -aaaaccttaa aagaaatgtt ccctattgag gcaggggcga
Feature /change: tcaatccaga gaacaggatc atcccccacc tcccagctcc
Feature /change: caagtggttt gacgggcagc gggccgccga gaaccgccag
Feature /change: ggcacactta ccgagtactg cagcacgctc atgagcctgc
Feature /change: ccaccaagat ctcccgctgt ccccacctcc tcgacttctt
Feature /change: caaggtgcgc cctgatgacc tcaagctccc cacagacaac
Feature /change: cagacaaaaa agccagagac atacttgatg cccaaagatg
Feature /change: gcaagagtac cgcgacag
Feature /note: skipping of exons 3-5
Feature /inexloc: -283
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 52..151
Feature /change: KTLKEMFPIE AGAINPENRI IPHLPAPKWF DGQRAAENRQ
Feature /change: GTLTEYCSTL MSLPTKISRC PHLLDFFKVR PDDLKLPTDN
Feature /change: QTKKPETYLM PKDGKSTATD
Feature /change: ->
Feature /change: TSPAPSSCRR TAPLPTTRRP RAPRWLCPRG TWWRSWRRAR
Feature /change: AVGGSVRX
Feature /domain: PX
Phenotype A47 0
Diagnosis Moderate chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid
Symptoms S. aureus dermatitis of the face and recurrent liver
Symptoms abscesses, which needed surgery and antibiotic treatment
Treatment Gamma-interferon; Prophylactic itraconazole and
Treatment trimethoprim-sulfamethoxazole
//
ID #V25X51(45a),Intron 7(1a); standard; MUTATION;
Accession N0062
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.IVS7+1G>C, c.682+1G>C, r.682+1g>c
Original code Family 6, older brother
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the intron 7 leading to
Description aberrant splicing
Date 09-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10610
Feature /change: g -> c
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587..694
Feature /change: -gttggtggtt ctgtcagatg aaagcaaagc gaggctggat
Feature /change: cccagcatcc ttcctcgagc ccctggacag tcctgacgag
Feature /change: acggaagacc ctgagcccaa ctatgcag
Feature /note: skipping of exon 7
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192..228
Feature /change: GWWFCQMKAK RGWIPASFLE PLDSPDETED PEPNYAG -> G
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0063 brother
Symptoms Ringworm, chest infections, gut inflammation diagnosed as
Symptoms Crohn's disease, fungal infection of the skin of his
Symptoms buttocks, four episodes of collapse of his left lung and
Symptoms multiple respiratory tract infections, bronchiectasis,
Symptoms perianal abscess and fistula, osteoporosis, lymphopenia
Treatment Gamma-interferon; Prophylactic
Treatment trimethoprim-sulfamethoxazole, itraconazole, prednizolone
Treatment and azathioprine
//
ID #V25X51(45b),Intron 7(1b); standard; MUTATION;
Accession N0063
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.IVS7+1G>C, c.682+1G>C, r.682+1g>c
Original code Family 6, younger brother
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the intron 7 leading to
Description aberrant splicing
Date 09-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10610
Feature /change: g -> c
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587..694
Feature /change: -gttggtggtt ctgtcagatg aaagcaaagc gaggctggat
Feature /change: cccagcatcc ttcctcgagc ccctggacag tcctgacgag
Feature /change: acggaagacc ctgagcccaa ctatgcag
Feature /note: skipping of exon 7
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192..228
Feature /change: GWWFCQMKAK RGWIPASFLE PLDSPDETED PEPNYAG -> G
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0062 brother
Symptoms Pyelonephritis, Crohn's disease, perforated eardrum,
Symptoms respiratory tract infections, osteoporosis, retroperitoneal
Symptoms abscess
Treatment Gamma-interferon; Prophylactic
Treatment trimethoprim-sulfamethoxazole, itraconazole, prednizolone
//
ID #V25X51(46a),#V25X51(46a); standard; MUTATION; PX,PX
Accession N0069
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient 2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 23-Oct-2007 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 17576211
RefAuthors Koker, M. Y., Sanal, O., De Boer, M., Tezcan, I., Metin,
RefAuthors A., Ersoy, F., Roos, D.
RefTitle Mutations of chronic granulomatous disease in turkish
RefTitle families.
RefLoc Eur J Clin Invest:589-595 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Turkey
Relative NCF1base; N0070 brother
Symptoms Recurrent pulmonary infections, peri-anal abscess at around
Symptoms 5 years
//
ID #V25X51(46b),#V25X51(46b); standard; MUTATION; PX,PX
Accession N0070
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code Patient 3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 23-Oct-2007 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 17576211
RefAuthors Koker, M. Y., Sanal, O., De Boer, M., Tezcan, I., Metin,
RefAuthors A., Ersoy, F., Roos, D.
RefTitle Mutations of chronic granulomatous disease in turkish
RefTitle families.
RefLoc Eur J Clin Invest:589-595 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Turkey
Relative NCF1base; N0069 brother
//
ID #V25X51(47),#V25X51(47); standard; MUTATION; PX,PX
Accession N0072
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14635404
RefAuthors Kabuki, T., Kawai, T., Kin, Y., Joh, K., Ohashi, H.,
RefAuthors Kosho, T., Yachie, A., Kanegane, H., Miyawaki, T., Oh-
RefAuthors ishi, T.
RefTitle [A case of williams syndrome with p47-phox-deficient
RefTitle chronic granulomatous disease]
RefLoc Nihon Rinsho Meneki Gakkai Kaishi:299-303 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #V25X51(48),R202X(1); standard; MUTATION; PX,SH3I
Accession N0073
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.10531C>T, c.604C>T, r.604c>u, p.Arg202X
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18546332
RefAuthors Kannengiesser, C., Gerard, B., El Benna, J., Henri, D.,
RefAuthors Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M.
RefAuthors A., Elbim, C., Grandchamp, B.
RefTitle Molecular epidemiology of chronic granulomatous disease in
RefTitle a series of 80 kindreds: identification of 31 novel
RefTitle mutations.
RefLoc Hum Mutat:E132-149 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10531
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 616
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 202
Feature /change: R -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #V25X51(49),E244K(1); standard; MUTATION; PX,SH3II
Accession N0074
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.12209G>A, c.730G>A, r.730g>a, p.Glu244Lys
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 8 leading to an
Description amino acid change in the SH3II domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 12209
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 742
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 244
Feature /change: E -> K
Feature /domain: SH3II
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #V25X51(50),G192S(4); standard; MUTATION; PX,SH3I
Accession N0075
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.10038G>A, c.574G>A, r.574g>a, p.Gly192Ser
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 6 leading to an
Description amino acid change in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #V25X51(51a),W193X(8a); standard; MUTATION; PX,SH3I
Accession N0076
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0077
//
ID #V25X51(51b),W193X(8b); standard; MUTATION; PX,SH3I
Accession N0077
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0076
//
ID #V25X51(52),#L280X375(1); standard; MUTATION; PX,SH3II
Accession N0078
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.14999delC, c.838delC, r.838delc, p.Leu280fsX96
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A frame shift deletion mutation in the exon 9
Description leading to a premature stop codon in the SH3II domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 14999
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 850
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 280
Feature /change: L ->
Feature /change: CKSRGKTCPR PNARSSGGRR PAGRPSATRT ASISGRGSAS
Feature /change: ARTPIAATAS VFCSSDAARR GRDRRAPGAR SRRSGRRSAL
Feature /change: NRSRRCPRGR APTSSX
Feature /domain: SH3II
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #V25X51(53),Deletion(1); standard; MUTATION; PX,PX
Accession N0094
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Systematic name Allele 2: c.417_451+650del
Description Allele 1: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Description Allele 1: Deletion of exon 5
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #V25X51(54),R42Q(3); standard; MUTATION; PX,PX
Accession N0096
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.4299G>A, c.125G>A, r.125g>a, p.Arg42Gln
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the PX domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 4299
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 137
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 42
Feature /change: R -> Q
Feature /domain: PX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #V25X51(55),W263C(1); standard; MUTATION; PX,SH3II
Accession N0097
Systematic name Allele 1: g.4249_4250delGT, c.75_76delGT, r.75_76delgu,
Systematic name p.Tyr26fsX26
Systematic name Allele 2: g.12268G>C, c.789G>C, r.789g>c, p.Trp263Cys
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the PX domain
Description Allele 2: A point mutation in the exon 8 leading to an
Description amino acid change in the SH3II domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 12268
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 801
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 263
Feature /change: W -> C
Feature /domain: SH3II
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #V25X51(56),#V25X51(56); standard; MUTATION; PX,PX
Accession N0099
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code MBN
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 10-Oct-2013 (Rel. 1, Created)
Date 10-Oct-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (10-Oct-2013) to NCF1base.
RefLoc Antonio Ferreira; Unidad de Inmunologia. Planta sotano
RefLoc Hospital Infantil. Hospital La Paz.Castellana 262.28046
RefLoc Madrid. Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc aferreira.hulp@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Sex male
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Parents carriers
Symptoms Foliculitis, tuberculous adenitis, skin abscesses,
Symptoms supraclavicular adenomegaly
Cell tests NBT test; DHR; Superoxide; Citometry
Treatment Prophylaxis;
//
ID #V25X51(57),#V25X51(57); standard; MUTATION; PX,PX
Accession N0100
Systematic name Allele 1 and 2: g.4249_4250delGT, c.75_76delGT,
Systematic name r.75_76delgu, p.Tyr26fsX26
Original code CGS
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the PX domain
Date 10-Oct-2013 (Rel. 1, Created)
Date 10-Oct-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (10-Oct-2013) to NCF1base.
RefLoc Antonio Ferreira; Unidad de Inmunologia. Planta sotano
RefLoc Hospital Infantil. Hospital La Paz.Castellana 262.28046
RefLoc Madrid. Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc aferreira.hulp@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 4249..4250
Feature /change: -gt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 87..88
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 25..26
Feature /change: VY -> VHVPGEMAGP VGEGGLPALH RDLRVPX
Feature /domain: PX
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Age 0.8
Sex male
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Parents carriers
Symptoms Inguinal abscess,pneumonia,submaxilar adenitis,costal
Symptoms osteomielitis
Cell tests NBT test; DHR; Superoxide; Citometry
Treatment Prophylaxis;
//
ID R42Q(2),#V271X375(1); standard; MUTATION; PX,SH3 2
Accession N0035
Systematic name Allele 1: g.4299G>A, c.125G>A, r.125g>a, p.Arg42Gln
Systematic name Allele 2: g.14972delG, c.811delG, r.811delg, p.Val271fsX105
Original code patient 5
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the PX domain
Description Allele 2: A frame shift deletion mutation in the exon 9
Description leading to a premature stop codon in the SH3II domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133775
RefAuthors Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger,
RefAuthors P. E., Curnutte, J. T., Heyworth, P. G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by defects in NCF-1, the gene encoding the phagocyte p47-
RefTitle phox: mutations not arising in the NCF-1 pseudogenes.
RefLoc Blood 97:305-311 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 4299
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 137
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 42
Feature /change: R -> Q
Feature /domain: PX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 14972
Feature /change: -g
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 823
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 271
Feature /change: V ->
Feature /change: SQATFRPCTC KSRGKTCPRP NARSSGGRRP AGRPSATRTA
Feature /change: SISGRGSASA RTPIAATASV FCSSDAARRG RDRRAPGARS
Feature /change: RRSGRRSALN RSRRCPRGRA PTSSX
Feature /domain: SH3II
Phenotype A47 0
Sex XY
//
ID G192S(1),G192S(1); standard; MUTATION; SH3 1,SH3 1
Accession N0036
Systematic name Allele 1 and 2: g.10038G>A, c.574G>A, r.574g>a, p.Gly192Ser
Original code patient 6
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change in the SH3I domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133775
RefAuthors Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger,
RefAuthors P. E., Curnutte, J. T., Heyworth, P. G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by defects in NCF-1, the gene encoding the phagocyte p47-
RefTitle phox: mutations not arising in the NCF-1 pseudogenes.
RefLoc Blood 97:305-311 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Phenotype A47 0
Sex XY
//
ID G192S(2a),G192S(2a); standard; MUTATION; SH3I,SH3I
Accession N0064
Systematic name Allele 1 and 2: g.10038G>A, c.574G>A, r.574g>a, p.Gly192Ser
Original code Family 7
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description aberrant splicing
Date 10-Nov-2006 (Rel. 1, Created)
Date 02-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /rnalink: 3
Feature /rnalink: 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 7
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 464..694
Feature /change: -acatcaccgg ccccatcatc ctgcagacgt accgcgccat
Feature /change: tgccgactac gagaagacct cgggctccga gatggctctg
Feature /change: tccacggggg acgtggtgga ggtcgtggag aagagcgaga
Feature /change: gcggttggtg gttctgtcag atgaaagcaa agcgaggctg
Feature /change: gatcccagca tccttcctcg agcccctgga cagtcctgac
Feature /change: gagacggaag accctgagcc caactatgca g
Feature rna; 4
Feature /dnalink: 1
Feature /aalink: 8
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 565..586
Feature /change: -gtcgtagaga agagcgagag cg
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587
Feature /change: +gtcagacctc ccaccttacg gggctccttc ccctggtgct
Feature /change: caggaaccca cagccacaag ccccctgcca aggctcaggc
Feature /change: agccttgccc ctgggaggac tccggctctg ttaggggccc
Feature /change: taaatgtcct ccccacactg tgggtcgcct tctgtcttag
Feature /change: tgtgcaccct gtggtggctg tgggcatctg tgcttggcag
Feature /change: gccggggcgg ggcatgtctg cgtgttctgt ctggatgggt
Feature /change: atgggaccgt ctgttcatta tgaagtgggc tcagagctgt
Feature /change: gattctgtga gcatgtgtgc atgcatgcat gtgacctcat
Feature /change: tgtccggtgt ggtgaaggtg acatttccaa atctgagcat
Feature /change: tggacatcag tgtgtctgtg tccctgtgtc ctcaccatcc
Feature /change: ctgatggctg cagggagccg ctgggccctg cccctcagtc
Feature /change: acattcccgc acctctggca cag
Feature aa; 6
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Feature aa; 7
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 151..228
Feature /change: DITGPIILQT YRAIADYEKT SGSEMALSTG DVVEVVEKSE
Feature /change: SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAG
Feature /change: ->
Feature /change: G
Feature aa; 8
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 185..192
Feature /change: VVEKSESG -> VGGSVRX
Feature /domain: SH3I
Feature aa; 9
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G ->
Feature /change: GQTSHLTGLL PLVLRNPQPQ APCQGSGSLA PGRTPALLGA
Feature /change: LNVLPTLWVA FCLSVHPVVA VGICAWQAGA GHVCVFCLDG
Feature /change: YGTVCSLX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 10
Feature /rnalink: 11
Feature /rnalink: 12
Feature /rnalink: 13
Feature /rnalink: 14
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 11
Feature /dnalink: 10
Feature /aalink: 15
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature rna; 12
Feature /dnalink: 10
Feature /aalink: 16
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 464..694
Feature /change: -acatcaccgg ccccatcatc ctgcagacgt accgcgccat
Feature /change: tgccgactac gagaagacct cgggctccga gatggctctg
Feature /change: tccacggggg acgtggtgga ggtcgtggag aagagcgaga
Feature /change: gcggttggtg gttctgtcag atgaaagcaa agcgaggctg
Feature /change: gatcccagca tccttcctcg agcccctgga cagtcctgac
Feature /change: gagacggaag accctgagcc caactatgca g
Feature rna; 13
Feature /dnalink: 10
Feature /aalink: 17
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 565..586
Feature /change: -gtcgtagaga agagcgagag cg
Feature rna; 14
Feature /dnalink: 10
Feature /aalink: 18
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587
Feature /change: +gtcagacctc ccaccttacg gggctccttc ccctggtgct
Feature /change: caggaaccca cagccacaag ccccctgcca aggctcaggc
Feature /change: agccttgccc ctgggaggac tccggctctg ttaggggccc
Feature /change: taaatgtcct ccccacactg tgggtcgcct tctgtcttag
Feature /change: tgtgcaccct gtggtggctg tgggcatctg tgcttggcag
Feature /change: gccggggcgg ggcatgtctg cgtgttctgt ctggatgggt
Feature /change: atgggaccgt ctgttcatta tgaagtgggc tcagagctgt
Feature /change: gattctgtga gcatgtgtgc atgcatgcat gtgacctcat
Feature /change: tgtccggtgt ggtgaaggtg acatttccaa atctgagcat
Feature /change: tggacatcag tgtgtctgtg tccctgtgtc ctcaccatcc
Feature /change: ctgatggctg cagggagccg ctgggccctg cccctcagtc
Feature /change: acattcccgc acctctggca cag
Feature aa; 15
Feature /rnalink: 11
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Feature aa; 16
Feature /rnalink: 12
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 151..228
Feature /change: DITGPIILQT YRAIADYEKT SGSEMALSTG DVVEVVEKSE
Feature /change: SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAG
Feature /change: ->
Feature /change: G
Feature aa; 17
Feature /rnalink: 13
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 185..192
Feature /change: VVEKSESG -> VGGSVRX
Feature /domain: SH3I
Feature aa; 18
Feature /rnalink: 14
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G ->
Feature /change: GQTSHLTGLL PLVLRNPQPQ APCQGSGSLA PGRTPALLGA
Feature /change: LNVLPTLWVA FCLSVHPVVA VGICAWQAGA GHVCVFCLDG
Feature /change: YGTVCSLX
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Turkey
Family history Inherited
Relative NCF1base; N0065 sister
Symptoms Axillary and cervical lymphadenopathies after BCG
Symptoms vaccination, recurrent seizures due to cranial granuloma
Symptoms for which she had craniotomy; Aspergillus was grown from
Symptoms the sample
Treatment Prophylactic itraconazole and trimethoprim-sulfamethoxazole
//
ID G192S(2b),G192S(2b); standard; MUTATION; SH3I,SH3I
Accession N0065
Systematic name Allele 1 and 2: g.10038G>A, c.574G>A, r.574g>a, p.Gly192Ser
Original code Family 7
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description aberrant splicing
Date 10-Nov-2006 (Rel. 1, Created)
Date 02-Nov-2011 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /rnalink: 3
Feature /rnalink: 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 7
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 464..694
Feature /change: -acatcaccgg ccccatcatc ctgcagacgt accgcgccat
Feature /change: tgccgactac gagaagacct cgggctccga gatggctctg
Feature /change: tccacggggg acgtggtgga ggtcgtggag aagagcgaga
Feature /change: gcggttggtg gttctgtcag atgaaagcaa agcgaggctg
Feature /change: gatcccagca tccttcctcg agcccctgga cagtcctgac
Feature /change: gagacggaag accctgagcc caactatgca g
Feature rna; 4
Feature /dnalink: 1
Feature /aalink: 8
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 565..586
Feature /change: -gtcgtagaga agagcgagag cg
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587
Feature /change: +gtcagacctc ccaccttacg gggctccttc ccctggtgct
Feature /change: caggaaccca cagccacaag ccccctgcca aggctcaggc
Feature /change: agccttgccc ctgggaggac tccggctctg ttaggggccc
Feature /change: taaatgtcct ccccacactg tgggtcgcct tctgtcttag
Feature /change: tgtgcaccct gtggtggctg tgggcatctg tgcttggcag
Feature /change: gccggggcgg ggcatgtctg cgtgttctgt ctggatgggt
Feature /change: atgggaccgt ctgttcatta tgaagtgggc tcagagctgt
Feature /change: gattctgtga gcatgtgtgc atgcatgcat gtgacctcat
Feature /change: tgtccggtgt ggtgaaggtg acatttccaa atctgagcat
Feature /change: tggacatcag tgtgtctgtg tccctgtgtc ctcaccatcc
Feature /change: ctgatggctg cagggagccg ctgggccctg cccctcagtc
Feature /change: acattcccgc acctctggca cag
Feature aa; 6
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Feature aa; 7
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 151..228
Feature /change: DITGPIILQT YRAIADYEKT SGSEMALSTG DVVEVVEKSE
Feature /change: SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAG
Feature /change: ->
Feature /change: G
Feature aa; 8
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 185..192
Feature /change: VVEKSESG -> VGGSVRX
Feature /domain: SH3I
Feature aa; 9
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G ->
Feature /change: GQTSHLTGLL PLVLRNPQPQ APCQGSGSLA PGRTPALLGA
Feature /change: LNVLPTLWVA FCLSVHPVVA VGICAWQAGA GHVCVFCLDG
Feature /change: YGTVCSLX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 10
Feature /rnalink: 11
Feature /rnalink: 12
Feature /rnalink: 13
Feature /rnalink: 14
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 11
Feature /dnalink: 10
Feature /aalink: 15
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature rna; 12
Feature /dnalink: 10
Feature /aalink: 16
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 464..694
Feature /change: -acatcaccgg ccccatcatc ctgcagacgt accgcgccat
Feature /change: tgccgactac gagaagacct cgggctccga gatggctctg
Feature /change: tccacggggg acgtggtgga ggtcgtggag aagagcgaga
Feature /change: gcggttggtg gttctgtcag atgaaagcaa agcgaggctg
Feature /change: gatcccagca tccttcctcg agcccctgga cagtcctgac
Feature /change: gagacggaag accctgagcc caactatgca g
Feature rna; 13
Feature /dnalink: 10
Feature /aalink: 17
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 565..586
Feature /change: -gtcgtagaga agagcgagag cg
Feature rna; 14
Feature /dnalink: 10
Feature /aalink: 18
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587
Feature /change: +gtcagacctc ccaccttacg gggctccttc ccctggtgct
Feature /change: caggaaccca cagccacaag ccccctgcca aggctcaggc
Feature /change: agccttgccc ctgggaggac tccggctctg ttaggggccc
Feature /change: taaatgtcct ccccacactg tgggtcgcct tctgtcttag
Feature /change: tgtgcaccct gtggtggctg tgggcatctg tgcttggcag
Feature /change: gccggggcgg ggcatgtctg cgtgttctgt ctggatgggt
Feature /change: atgggaccgt ctgttcatta tgaagtgggc tcagagctgt
Feature /change: gattctgtga gcatgtgtgc atgcatgcat gtgacctcat
Feature /change: tgtccggtgt ggtgaaggtg acatttccaa atctgagcat
Feature /change: tggacatcag tgtgtctgtg tccctgtgtc ctcaccatcc
Feature /change: ctgatggctg cagggagccg ctgggccctg cccctcagtc
Feature /change: acattcccgc acctctggca cag
Feature aa; 15
Feature /rnalink: 11
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Feature aa; 16
Feature /rnalink: 12
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 151..228
Feature /change: DITGPIILQT YRAIADYEKT SGSEMALSTG DVVEVVEKSE
Feature /change: SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAG
Feature /change: ->
Feature /change: G
Feature aa; 17
Feature /rnalink: 13
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 185..192
Feature /change: VVEKSESG -> VGGSVRX
Feature /domain: SH3I
Feature aa; 18
Feature /rnalink: 14
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G ->
Feature /change: GQTSHLTGLL PLVLRNPQPQ APCQGSGSLA PGRTPALLGA
Feature /change: LNVLPTLWVA FCLSVHPVVA VGICAWQAGA GHVCVFCLDG
Feature /change: YGTVCSLX
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Turkey
Family history Inherited
Relative NCF1base; N0064 sister
Symptoms Cervical lymphadenopathies after tonsillitis (or due to
Symptoms tonsil infection)
Treatment Prophylactic itraconazole and trimethoprim-sulfamethoxazole
//
ID G192S(3),G192S(3); standard; MUTATION; SH3I,SH3I
Accession N0067
Systematic name Allele 1 and 2: g.10038G>A, c.574G>A, r.574g>a, p.Gly192Ser
Original code Family 8
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description aberrant splicing
Date 10-Nov-2006 (Rel. 1, Created)
Date 02-Nov-2011 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /rnalink: 3
Feature /rnalink: 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 7
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 464..694
Feature /change: -acatcaccgg ccccatcatc ctgcagacgt accgcgccat
Feature /change: tgccgactac gagaagacct cgggctccga gatggctctg
Feature /change: tccacggggg acgtggtgga ggtcgtggag aagagcgaga
Feature /change: gcggttggtg gttctgtcag atgaaagcaa agcgaggctg
Feature /change: gatcccagca tccttcctcg agcccctgga cagtcctgac
Feature /change: gagacggaag accctgagcc caactatgca g
Feature rna; 4
Feature /dnalink: 1
Feature /aalink: 8
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 565..586
Feature /change: -gtcgtagaga agagcgagag cg
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587
Feature /change: +gtcagacctc ccaccttacg gggctccttc ccctggtgct
Feature /change: caggaaccca cagccacaag ccccctgcca aggctcaggc
Feature /change: agccttgccc ctgggaggac tccggctctg ttaggggccc
Feature /change: taaatgtcct ccccacactg tgggtcgcct tctgtcttag
Feature /change: tgtgcaccct gtggtggctg tgggcatctg tgcttggcag
Feature /change: gccggggcgg ggcatgtctg cgtgttctgt ctggatgggt
Feature /change: atgggaccgt ctgttcatta tgaagtgggc tcagagctgt
Feature /change: gattctgtga gcatgtgtgc atgcatgcat gtgacctcat
Feature /change: tgtccggtgt ggtgaaggtg acatttccaa atctgagcat
Feature /change: tggacatcag tgtgtctgtg tccctgtgtc ctcaccatcc
Feature /change: ctgatggctg cagggagccg ctgggccctg cccctcagtc
Feature /change: acattcccgc acctctggca cag
Feature aa; 6
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Feature aa; 7
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 151..228
Feature /change: DITGPIILQT YRAIADYEKT SGSEMALSTG DVVEVVEKSE
Feature /change: SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAG
Feature /change: ->
Feature /change: G
Feature aa; 8
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 185..192
Feature /change: VVEKSESG -> VGGSVRX
Feature /domain: SH3I
Feature aa; 9
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G ->
Feature /change: GQTSHLTGLL PLVLRNPQPQ APCQGSGSLA PGRTPALLGA
Feature /change: LNVLPTLWVA FCLSVHPVVA VGICAWQAGA GHVCVFCLDG
Feature /change: YGTVCSLX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 10
Feature /rnalink: 11
Feature /rnalink: 12
Feature /rnalink: 13
Feature /rnalink: 14
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 11
Feature /dnalink: 10
Feature /aalink: 15
Feature /name: missense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 586
Feature /codon: ggt -> agt; 1
Feature rna; 12
Feature /dnalink: 10
Feature /aalink: 16
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 464..694
Feature /change: -acatcaccgg ccccatcatc ctgcagacgt accgcgccat
Feature /change: tgccgactac gagaagacct cgggctccga gatggctctg
Feature /change: tccacggggg acgtggtgga ggtcgtggag aagagcgaga
Feature /change: gcggttggtg gttctgtcag atgaaagcaa agcgaggctg
Feature /change: gatcccagca tccttcctcg agcccctgga cagtcctgac
Feature /change: gagacggaag accctgagcc caactatgca g
Feature rna; 13
Feature /dnalink: 10
Feature /aalink: 17
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 565..586
Feature /change: -gtcgtagaga agagcgagag cg
Feature rna; 14
Feature /dnalink: 10
Feature /aalink: 18
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 587
Feature /change: +gtcagacctc ccaccttacg gggctccttc ccctggtgct
Feature /change: caggaaccca cagccacaag ccccctgcca aggctcaggc
Feature /change: agccttgccc ctgggaggac tccggctctg ttaggggccc
Feature /change: taaatgtcct ccccacactg tgggtcgcct tctgtcttag
Feature /change: tgtgcaccct gtggtggctg tgggcatctg tgcttggcag
Feature /change: gccggggcgg ggcatgtctg cgtgttctgt ctggatgggt
Feature /change: atgggaccgt ctgttcatta tgaagtgggc tcagagctgt
Feature /change: gattctgtga gcatgtgtgc atgcatgcat gtgacctcat
Feature /change: tgtccggtgt ggtgaaggtg acatttccaa atctgagcat
Feature /change: tggacatcag tgtgtctgtg tccctgtgtc ctcaccatcc
Feature /change: ctgatggctg cagggagccg ctgggccctg cccctcagtc
Feature /change: acattcccgc acctctggca cag
Feature aa; 15
Feature /rnalink: 11
Feature /name: aa substitution
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G -> S
Feature /domain: SH3I
Feature aa; 16
Feature /rnalink: 12
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 151..228
Feature /change: DITGPIILQT YRAIADYEKT SGSEMALSTG DVVEVVEKSE
Feature /change: SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAG
Feature /change: ->
Feature /change: G
Feature aa; 17
Feature /rnalink: 13
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 185..192
Feature /change: VVEKSESG -> VGGSVRX
Feature /domain: SH3I
Feature aa; 18
Feature /rnalink: 14
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 192
Feature /change: G ->
Feature /change: GQTSHLTGLL PLVLRNPQPQ APCQGSGSLA PGRTPALLGA
Feature /change: LNVLPTLWVA FCLSVHPVVA VGICAWQAGA GHVCVFCLDG
Feature /change: YGTVCSLX
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Turkey
Family history Inherited
Symptoms Aspergillus granuloma
Treatment Prophylactic itraconazole and trimethoprim-sulfamethoxazole
//
ID W193X(1),W193X(1); standard; MUTATION; SH3 1,SH3 1
Accession N0024
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 18708296
RefAuthors Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G.,
RefAuthors Etzioni, A., Roos, D.
RefTitle Chronic granulomatous disease in israel: clinical,
RefTitle functional and molecular studies of 38 patients.
RefLoc Clin Immunol:103-114 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Phenotype A47 0
Sex XY
Family history Both parents and sister are carriers
//
ID W193X(2),W193X(2); standard; MUTATION; SH3 1,SH3 1
Accession N0025
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 18708296
RefAuthors Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G.,
RefAuthors Etzioni, A., Roos, D.
RefTitle Chronic granulomatous disease in israel: clinical,
RefTitle functional and molecular studies of 38 patients.
RefLoc Clin Immunol:103-114 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Phenotype A47 0
Sex XX
Family history Both parents and sister are carriers
//
ID W193X(3),W193X(3); standard; MUTATION; SH3 1,SH3 1
Accession N0026
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 09-Aug-2010 (Rel. 3, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 18708296
RefAuthors Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G.,
RefAuthors Etzioni, A., Roos, D.
RefTitle Chronic granulomatous disease in israel: clinical,
RefTitle functional and molecular studies of 38 patients.
RefLoc Clin Immunol:103-114 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Phenotype A47 0
Sex XX
Family history Both parents are carriers
//
ID W193X(4a),W193X(4a); standard; MUTATION; SH3I,SH3I
Accession N0037
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Original code Family F, propand
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 07-Nov-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11920901
RefAuthors de Boer, M., Singh, V., Dekker, J., Di Rocco, M.,
RefAuthors Goldblatt, D., Roos, D.
RefTitle Prenatal diagnosis in two families with autosomal,
RefTitle p47(phox)-deficient chronic granulomatous disease due to a
RefTitle novel point mutation in NCF1.
RefLoc Prenat Diagn:235-240 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative NCF1base; N0038 sister
Symptoms Perinatal abscess, skin infections, episodes of pneumonitis
//
ID W193X(4b),W193X(4b); standard; MUTATION; SH3I,SH3I
Accession N0038
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Original code Family F, affected sister
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11920901
RefAuthors de Boer, M., Singh, V., Dekker, J., Di Rocco, M.,
RefAuthors Goldblatt, D., Roos, D.
RefTitle Prenatal diagnosis in two families with autosomal,
RefTitle p47(phox)-deficient chronic granulomatous disease due to a
RefTitle novel point mutation in NCF1.
RefLoc Prenat Diagn:235-240 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative NCF1base; N0037 brother
//
ID W193X(5),W193X(5); standard; MUTATION; SH3I,SH3I
Accession N0039
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Original code Patient O
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 07-Nov-2006 (Rel. 1, Created)
Date 07-Nov-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11920901
RefAuthors de Boer, M., Singh, V., Dekker, J., Di Rocco, M.,
RefAuthors Goldblatt, D., Roos, D.
RefTitle Prenatal diagnosis in two families with autosomal,
RefTitle p47(phox)-deficient chronic granulomatous disease due to a
RefTitle novel point mutation in NCF1.
RefLoc Prenat Diagn:235-240 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Caucasoid; Turkey
Family history Inherited
Symptoms Liver abscess,
Comment Patient's sister diagnosed as a CGD patient died from
Comment invasive aspergillosis of the lungs
//
ID W193X(7),Intron 2(2); standard; MUTATION; SH3I,
Accession N0068
Systematic name Allele 1: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Systematic name Allele 2: g.4328G>A, c.153+1G>A, r.153+1g>a
Original code Family 9
Description Allele 1: A point mutation in the exon 7 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 4328
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Dagestan
Family history Inherited
Symptoms Severe furunculosis of the skin and gastroenteritis, large
Symptoms mediastinal adenopathy proved to be of Mycobacterium
Symptoms tuberculosis etiology, cervical suppurative lymphadenitis
Symptoms and recurrent furunculosis of the face, extremities and
Symptoms back, which required combined surgical excicion and
Symptoms parenteral antibiotics, left upper and lower lobe pneumonia
Symptoms caused by Mycobacterium tuberculosis
Treatment Prophylactic itraconazole and trimethoprim-sulfamethoxazole
//
ID W193X(7),Intron 2(2); standard; MUTATION; SH3I,
Accession N0068
Systematic name Allele 1: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Systematic name Allele 2: g.4328G>A, c.153+1G>A, r.153+1g>a
Original code Family 9
Description Allele 1: A point mutation in the exon 7 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Nov-2006 (Rel. 1, Created)
Date 09-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16972229
RefAuthors Roos, D., de Boer, M., Koker, M. Y., Dekker, J., Singh-
RefAuthors Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-
RefAuthors Deptuch, M., Jolles, S., Wolach, B.
RefTitle Chronic granulomatous disease caused by mutations other
RefTitle than the common GT deletion in NCF1, the gene encoding the
RefTitle p47phox component of the phagocyte NADPH oxidase.
RefLoc Hum Mutat:1218-1229 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 4328
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A47 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Dagestan
Family history Inherited
Symptoms Severe furunculosis of the skin and gastroenteritis, large
Symptoms mediastinal adenopathy proved to be of Mycobacterium
Symptoms tuberculosis etiology, cervical suppurative lymphadenitis
Symptoms and recurrent furunculosis of the face, extremities and
Symptoms back, which required combined surgical excicion and
Symptoms parenteral antibiotics, left upper and lower lobe pneumonia
Symptoms caused by Mycobacterium tuberculosis
Treatment Prophylactic itraconazole and trimethoprim-sulfamethoxazole
//
ID W193X(9),W193X(9); standard; MUTATION; SH3I,SH3I
Accession N0080
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID W193X(10),W193X(10); standard; MUTATION; SH3I,SH3I
Accession N0081
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID W193X(11),W193X(11); standard; MUTATION; SH3I,SH3I
Accession N0082
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID W193X(12),W193X(12); standard; MUTATION; SH3I,SH3I
Accession N0083
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID W193X(13),W193X(13); standard; MUTATION; SH3I,SH3I
Accession N0084
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID W193X(14),W193X(14); standard; MUTATION; SH3I,SH3I
Accession N0085
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID W193X(15a),W193X(15a); standard; MUTATION; SH3I,SH3I
Accession N0086
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0087
//
ID W193X(15b),W193X(15b); standard; MUTATION; SH3I,SH3I
Accession N0087
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0086
//
ID W193X(16),W193X(16); standard; MUTATION; SH3I,SH3I
Accession N0088
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID W193X(17a),W193X(17a); standard; MUTATION; SH3I,SH3I
Accession N0089
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0090
Relative NCF1base; N0091
//
ID W193X(17b),W193X(17b); standard; MUTATION; SH3I,SH3I
Accession N0090
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0089
Relative NCF1base; N0091
//
ID W193X(17c),W193X(17c); standard; MUTATION; SH3I,SH3I
Accession N0091
Systematic name Allele 1 and 2: g.10506G>A, c.579G>A, r.579g>a, p.Trp193X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10506
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 591
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 193
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF1base; N0089
Relative NCF1base; N0090
//
ID W204X(1),W204X(1); standard; MUTATION; SH3I,SH3I
Accession N0095
Systematic name Allele 1 and 2: g.10539G>A, c.612G>A, r.612g>a, p.Trp204X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3I domain
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19663600
RefAuthors Jakobsen, M. A., Pedersen, S. S., Barington, T.
RefTitle Detection of non-deltaGT NCF-1 mutations in chronic
RefTitle granulomatous disease.
RefLoc Genet Test Mol Biomarkers:505-510 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10539
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 624
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 204
Feature /change: W -> X
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10539
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 624
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 204
Feature /change: W -> X
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Y226X(1),Y226X(1); standard; MUTATION; SH3II,SH3II
Accession N0079
Systematic name Allele 1 and 2: g.10605T>G, c.678T>G, r.678u>g, p.Tyr226X
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the SH3II domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18546332
RefAuthors Kannengiesser, C., Gerard, B., El Benna, J., Henri, D.,
RefAuthors Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M.
RefAuthors A., Elbim, C., Grandchamp, B.
RefTitle Molecular epidemiology of chronic granulomatous disease in
RefTitle a series of 80 kindreds: identification of 31 novel
RefTitle mutations.
RefLoc Hum Mutat:E132-149 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10605
Feature /change: t -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 690
Feature /codon: tat -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 226
Feature /change: Y -> X
Feature /domain: SH3II
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0099: 10605
Feature /change: t -> g
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 690
Feature /codon: tat -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 226
Feature /change: Y -> X
Feature /domain: SH3II
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #V245-5(1a),#V245-5(1a); standard; MUTATION; SH3II,SH3II
Accession N0092
Systematic name Allele 1 and 2: g.12213_12227delTGTCCCTGCTCGAGG,
Systematic name c.734_748delTGTCCCTGCTCGAGG, r.734_748delugucccugcucgagg,
Systematic name p.Val245del
Description Allele 1 and 2: An inframe deletion in the exon 8 leading
Description to an amino acid change in the SH3II domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 12213..12227
Feature /change: -tgtccctgct cgagg
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 746..760
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 245..250
Feature /change: VSLLEG -> G
Feature /domain: SH3II
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 12213..12227
Feature /change: -tgtccctgct cgagg
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 746..760
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 245..250
Feature /change: VSLLEG -> G
Feature /domain: SH3II
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF1base; N0093
//
ID #V245-5(1b),#V245-5(1b); standard; MUTATION; SH3II,SH3II
Accession N0093
Systematic name Allele 1 and 2: g.12213_12227delTGTCCCTGCTCGAGG,
Systematic name c.734_748delTGTCCCTGCTCGAGG, r.734_748delugucccugcucgagg,
Systematic name p.Val245del
Description Allele 1 and 2: An inframe deletion in the exon 8 leading
Description to an amino acid change in the SH3II domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 12213..12227
Feature /change: -tgtccctgct cgagg
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 746..760
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 245..250
Feature /change: VSLLEG -> G
Feature /domain: SH3II
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 12213..12227
Feature /change: -tgtccctgct cgagg
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 746..760
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P14598; NCF1_HUMAN: 245..250
Feature /change: VSLLEG -> G
Feature /domain: SH3II
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF1base; N0092
//
ID #Y279X375(1),#Y279X375(1); standard; MUTATION; SH3II,SH3II
Accession N0071
Systematic name Allele 1 and 2: g.14998delC, c.837delC, r.837delc,
Systematic name p.Leu280fsX96
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 9 leading to a premature stop codon in the SH3II domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19329991
RefAuthors van de Vosse, E., van Wengen, A., van Geelen, J. A., de
RefAuthors Boer, M., Roos, D., van Dissel, J. T.
RefTitle A novel mutation in NCF1 in an adult CGD patient with a
RefTitle liver abscess as first presentation.
RefLoc J Hum Genet:313-316 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 14998
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 849
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 279
Feature /change: Y ->
Feature /change: YCKSRGKTCP RPNARSSGGR RPAGRPSATR TASISGRGSA
Feature /change: SARTPIAATA SVFCSSDAAR RGRDRRAPGA RSRRSGRRSA
Feature /change: LNRSRRCPRG RAPTSSX
Feature /domain: SH3II
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0099: 14998
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0099; GI:127946; NCF1C: 849
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14598; NCF1_HUMAN: 279
Feature /change: Y ->
Feature /change: YCKSRGKTCP RPNARSSGGR RPAGRPSATR TASISGRGSA
Feature /change: SARTPIAATA SVFCSSDAAR RGRDRRAPGA RSRRSGRRSA
Feature /change: LNRSRRCPRG RAPTSSX
Feature /domain: SH3II
Diagnosis Classical chronic granulomatous disease
Age 25
Sex XX
Symptoms Fever; Eczema; Malaise; Low apetite;
//
ID Deletion(2),Deletion(2); standard; MUTATION;
Accession N0098
Systematic name Allele 1 and 2: c.1-?_1170+?del
Description Allele 1 and 2: Deletion of NCF1 gene
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 1_11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 1_11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
//
|
