Database CYBAbase
Version 2.2
File cybapub.html
Date 23-Oct-2015
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/CYBAbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF39.html
Gene CYBA
Disease Autosomal recessive chronic granulomatous disease(CGD),
Disease deficiency of p22 phox
OMIM 233690
GDB 125238
Sequence IDRefSeq:D0024; IDRefSeq:C0024; UniProt:P13498
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID M1K(1),M1K(1); standard; MUTATION;
Accession H0086
Systematic name Allele 1 and 2: g.1030T>A, c.2T>A, r.2u>a, p.Met1Lys
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 1030
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 30
Feature /codon: atg -> aag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 1
Feature /change: M -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1030
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 30
Feature /codon: atg -> aag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 1
Feature /change: M -> K
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Q3X(1),Q3X(1); standard; MUTATION;
Accession H0023
Systematic name Allele 1 and 2: g.1035C>T, c.7C>T, r.7c>u, p.Gln3X
Original code Patient 1 ref [1]
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10759707
RefAuthors Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-
RefAuthors Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K.,
RefAuthors Sakiyama, Y.
RefTitle Genetic studies of three japanese patients with p22-phox-
RefTitle deficient chronic granulomatous disease: detection of a
RefTitle possible common mutant CYBA allele in japan and a genotype-
RefTitle phenotype correlation in these patients.
RefLoc Br J Haematol 108:511-517 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1035
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 35
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 3
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1035
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 35
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 3
Feature /change: Q -> X
Phenotype A22 0
//
ID Q3X(2),Q3X(2); standard; MUTATION;
Accession H0026
Systematic name Allele 1 and 2: g.1035C>T, c.7C>T, r.7c>u, p.Gln3X
Original code 22-1 ref [1]
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10914676
RefAuthors Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I.,
RefAuthors Kanegasaki, S.
RefTitle Statistical and mutational analysis of chronic
RefTitle granulomatous disease in japan with special reference to
RefTitle gp91-phox and p22-phox deficiency.
RefLoc Hum Genet:473-481 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1035
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 35
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 3
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1035
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 35
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 3
Feature /change: Q -> X
Phenotype A22 0
Sex XX
//
ID Q3X(5),Q3X(5); standard; MUTATION;
Accession H0092
Systematic name Allele 1 and 2: g.1035C>T, c.7C>T, r.7c>u, p.Gln3X
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 1035
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 35
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 3
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1035
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 35
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 3
Feature /change: Q -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID W9X(1),G25V(1); standard; MUTATION;
Accession H0017
Systematic name Allele 1: g.1054G>A, c.26G>A, r.26g>a, p.Trp9X
Systematic name Allele 2: g.3943G>T, c.74G>T, r.74g>u, p.Gly25Val
Original code patient 5 ref [1]
Description Allele 1: A point mutation in the exon 1 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1054
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 54
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 9
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3943
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 102
Feature /codon: ggc -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 25
Feature /change: G -> V
Phenotype A22 0
Protein level 0
Heme level 0
Oxidase act. 0.2 nmol/min/10.7
NBT-slide 0
Sex XY
Family history 1. mother is carrier 2. father and sister are carriers
//
ID W9X(2),W9X(2); standard; MUTATION;
Accession H0027
Systematic name Allele 1 and 2: g.1055G>A, c.27G>A, r.27g>a, p.Trp9X
Original code 22-2 ref [1]
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 10914676
RefAuthors Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I.,
RefAuthors Kanegasaki, S.
RefTitle Statistical and mutational analysis of chronic
RefTitle granulomatous disease in japan with special reference to
RefTitle gp91-phox and p22-phox deficiency.
RefLoc Hum Genet:473-481 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1055
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 55
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 9
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1055
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 55
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 9
Feature /change: W -> X
Phenotype A22 0
Sex XY
//
ID A16P(1),A16P(1); standard; MUTATION;
Accession H0105
Systematic name Allele 1 and 2: g.1074G>C, c.46G>C, r.46g>c, p.Ala16Pro
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 07-Nov-2013 (Rel. 1, Created)
Date 07-Nov-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Nov-2013) to CYBAbase.
RefLoc Mustafa Yavuz kAnker; Department of Immunology, University
RefLoc of Erciyes; Tel +905053478838; Fax +903522249327; e-mail
RefLoc mykoker@erciyes.edu.tr
RefNumber [1]
RefCrossRef PUBMED; 23910690
RefAuthors Koker, M. Y., Camcıoğlu, Y., van Leeuwen, K., Kılıç, S.
RefAuthors Ş., Barlan, I., Yılmaz, M., Metin, A., de Boer, M.,
RefAuthors Avcılar, H., Patıroğlu, T., Yıldıran, A., Yeğin, O.,
RefAuthors Tezcan, I., Sanal, O., Roos, D.
RefTitle Clinical, functional, and genetic characterization of
RefTitle chronic granulomatous disease in 89 turkish patients.
RefLoc J Allergy Clin Immunol:1156-1163.e5 (2013)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1074
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 74
Feature /codon: gcg -> ccg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 16
Feature /change: A -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 1074
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 74
Feature /codon: gcg -> ccg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 16
Feature /change: A -> P
mRNA level Absent
Protein level Absent
Activity Inactive
Protein struct Gly25Asp
Diagnosis Classical chronic granulomatous disease
Age 3
Sex xy
Ethnic origin Caucasoid
Family history Inherited
Cell tests DHR; flow cytometry with antibody to p22
Treatment Prophylaxis; Antibiotics;
//
ID G24E(1),G24E(1); standard; MUTATION;
Accession H0069
Systematic name Allele 1 and 2: g.3940G>A, c.71G>A, r.71g>a, p.Gly24Glu
Original code P.18
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
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: D0024: 3940
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 99
Feature /codon: ggg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3940
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 99
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> E
Diagnosis Classical chronic granulomatous disease
Age 12
Sex XX
Ethnic origin Yemenite Jew
//
ID G24R(1),W36X(1); standard; MUTATION;
Accession H0021
Systematic name Allele 1: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Systematic name Allele 2: g.3976G>A, c.107G>A, r.107g>a, p.Trp36X
Original code patient 8 ref [1]
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3976
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 135
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 36
Feature /change: W -> X
Protein level 0
Heme level N.d.
Oxidase act. N.d.
NBT-slide 0
Sex XX
Family history 1. mother is carrier. Father's genotype is unknown
//
ID G24R(2),G24R(2); standard; MUTATION;
Accession H0024
Systematic name Allele 1 and 2: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Original code Patient 2 ref [1]
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10759707
RefAuthors Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-
RefAuthors Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K.,
RefAuthors Sakiyama, Y.
RefTitle Genetic studies of three japanese patients with p22-phox-
RefTitle deficient chronic granulomatous disease: detection of a
RefTitle possible common mutant CYBA allele in japan and a genotype-
RefTitle phenotype correlation in these patients.
RefLoc Br J Haematol 108:511-517 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
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: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
Phenotype A22 -
//
ID G24R(3),G24R(3); standard; MUTATION;
Accession H0025
Systematic name Allele 1 and 2: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Original code Patient 3 Ref[1]
Date 30-Jul-2002 (Rel. 2, Created)
Date 30-Jul-2002 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10759707
RefAuthors Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-
RefAuthors Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K.,
RefAuthors Sakiyama, Y.
RefTitle Genetic studies of three japanese patients with p22-phox-
RefTitle deficient chronic granulomatous disease: detection of a
RefTitle possible common mutant CYBA allele in japan and a genotype-
RefTitle phenotype correlation in these patients.
RefLoc Br J Haematol 108:511-517 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
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: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
Phenotype A22 -
//
ID G24R(4),G24R(4); standard; MUTATION;
Accession H0034
Systematic name Allele 1 and 2: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
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; 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: D0024: 3939
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
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: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
Phenotype A22
Sex XX
Comment Father homozygous for this mutation
//
ID G24R(5),Intron 1(1); standard; MUTATION;
Accession H0028
Systematic name Allele 1: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Systematic name Allele 2: g.1090_1093delAGTG, c.58+4_58+7delAGTG,
Systematic name r.58+4_58+7delagug
Original code 22-3 ref [1]
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Description Allele 2: A deletion in the intron 1 leading to
Description aberrant splicing
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 10914676
RefAuthors Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I.,
RefAuthors Kanegasaki, S.
RefTitle Statistical and mutational analysis of chronic
RefTitle granulomatous disease in japan with special reference to
RefTitle gp91-phox and p22-phox deficiency.
RefLoc Hum Genet:473-481 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
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: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A22 0
Sex XY
//
ID G24R(6),A124V(1); standard; MUTATION;
Accession H0030
Systematic name Allele 1: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Systematic name Allele 2: g.8472C>T, c.371C>T, r.371c>u, p.Ala124Val
Original code 22-4 ref [1]
Description Allele 1: point mutation in the exon 2 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 6 leading to an amino
Description acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 12-Oct-2006 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10914676
RefAuthors Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I.,
RefAuthors Kanegasaki, S.
RefTitle Statistical and mutational analysis of chronic
RefTitle granulomatous disease in japan with special reference to
RefTitle gp91-phox and p22-phox deficiency.
RefLoc Hum Genet:473-481 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024: 98
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; CY24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 8472
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024: 399
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; CY24A_HUMAN: 124
Feature /change: A -> V
Phenotype A22 0
Sex XX
//
ID G24R(7),G24R(7); standard; MUTATION;
Accession H0060
Systematic name Allele 1 and 2: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 3939
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
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: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID G24R(8),G24R(8); standard; MUTATION;
Accession H0061
Systematic name Allele 1 and 2: g.3939G>A, c.70G>A, r.70g>a, p.Gly24Arg
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 3939
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 3939
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: C0024; GI:115210; CYBAC: 98
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 24
Feature /change: G -> R
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID L51Q(1),Deletion(5); standard; MUTATION;
Accession H0100
Systematic name Allele 1: g.4890T>A, c.152T>A, r.152u>a, p.Leu51Gln
Systematic name Allele 1: c.288-6_297delccccagGCTCTCGGTG
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change
Description Allele 2: Deletion of 16 base pair at the end of intron4
Description and beginning of exon 5 leading to loss of exon5.
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 4890
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 180
Feature /codon: ctg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 51
Feature /change: L -> Q
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 L52P(1),L52P(1); standard; MUTATION;
Accession H0014
Systematic name Allele 1 and 2: g.4893T>C, c.155T>C, r.155u>c, p.Leu52Pro
Original code patient 2 ref [1]
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 4893
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 183
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 52
Feature /change: L -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 4893
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 183
Feature /codon: ctg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 52
Feature /change: L -> P
Phenotype A22 0
Protein level 0
Heme level 0
Oxidase act. 0
NBT-slide 0
Sex XY
Parents Non-consanguinous
Family history Mother is carrier, father's genotype unknown
Comment died at 29 years of age;
//
ID E53V(1),@K58X212(1); standard; MUTATION;
Accession H0005
Systematic name Allele 1: g.4896A>T, c.158A>T, r.158a>u, p.Glu53Val
Systematic name Allele 2: g.4909dupG, c.171dupG, r.171dupg, p.Lys58fsX155
Original code S.B. ref [1];IX-06 ref [2]
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: A frame shift duplication mutation in the exon 3
Description leading to a premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8168815
RefAuthors Hossle, J. P., de Boer, M., Seger, R. A., Roos, D.
RefTitle Identification of allele-specific p22-phox mutations in a
RefTitle compound heterozygous patient with chronic granulomatous
RefTitle disease by mismatch PCR and restriction enzyme analysis.
RefLoc Hum Genet 93:437-442 (1994)
RefNumber [2]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [3]
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: point
Feature /loc: IDRefSeq: D0024: 4896
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 186
Feature /codon: gag -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 53
Feature /change: E -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
Phenotype A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XY
Family history 1. mother carrier 2. father carrier
//
ID P55R(1),P55R(1); standard; MUTATION;
Accession H0054
Systematic name Allele 1 and 2: g.4902C>G, c.164C>G, r.164c>g, p.Pro55Arg
Original code P19
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
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: D0024: 4902
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 192
Feature /codon: ccc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 55
Feature /change: P -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 4902
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 192
Feature /codon: ccc -> cgc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 55
Feature /change: P -> R
Diagnosis Classical chronic granulomatous disease
Age 5.5
Sex XX
Ethnic origin Arabic
//
ID @R56X212(1a),R90W(2a); standard; MUTATION;
Accession H0019
Systematic name Allele 1: g.4904dupC, c.166dupC, r.166dupc, p.Arg56fsX157
Systematic name Allele 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Original code patient 7 ref [1]
Description Allele 1: A frame shift duplication mutation in the exon 3
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 4 leading to an
Description amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Phenotype A22 0
Protein level 0
Heme level 0
Oxidase act. 0
NBT-slide 0
Sex XX
Relative CYBAbase; H0020 sister
Family history 1. mother is carrier 2. father is carrier
//
ID @R56X212(1b),R90W(2b); standard; MUTATION;
Accession H0020
Systematic name Allele 1: g.4904dupC, c.166dupC, r.166dupc, p.Arg56fsX157
Systematic name Allele 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Original code patient 7a ref [1]
Description Allele 1: A frame shift duplication mutation in the exon 3
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 4 leading to an
Description amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Phenotype A22 0
Protein level 0
Heme level 0
Oxidase act. 0
NBT-slide 0
Sex XX
Relative CYBAbase; H0019 sister
Family history 1. mother is carrier 2. father is carrier
//
ID @R56X212(2),@R56X212(2); standard; MUTATION;
Accession H0056
Systematic name Allele 1 and 2: g.4904dupC, c.166dupC, r.166dupc,
Systematic name p.Arg56fsX157
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID @R56X212(3),@R56X212(3); standard; MUTATION;
Accession H0057
Systematic name Allele 1 and 2: g.4904dupC, c.166dupC, r.166dupc,
Systematic name p.Arg56fsX157
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID @R56X212(4a),@R56X212(4a); standard; MUTATION;
Accession H0058
Systematic name Allele 1 and 2: g.4904dupC, c.166dupC, r.166dupc,
Systematic name p.Arg56fsX157
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative CYBAbase; H0059
//
ID @R56X212(4b),@R56X212(4b); standard; MUTATION;
Accession H0059
Systematic name Allele 1 and 2: g.4904dupC, c.166dupC, r.166dupc,
Systematic name p.Arg56fsX157
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative CYBAbase; H0058
//
ID @R56X212(5),R90W(6); standard; MUTATION;
Accession H0089
Systematic name Allele 1: g.4904dupC, c.166dupC, r.166dupc, p.Arg56fsX157
Systematic name Allele 2: g.5267_5268insT, c.267_268insT, r.267_268insu,
Systematic name p.Arg90Trp
Description Allele 1: A frame shift duplication mutation in the exon 3
Description leading to a premature stop codon
Description Allele 2: An insertion mutation in the exon 4 leading to an
Description amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: duplication
Feature /loc: IDRefSeq: D0024: 4905
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 195
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 56
Feature /change: R ->
Feature /change: PGEEEEGLHH GALGTEAHDR RGEAVRALYQ ELLCSGRPAS
Feature /change: PALGARRLPA GHHPWDRLPG HCERHLPTGG CAWRAVDAHR
Feature /change: AQAPGAAADR RHHQAAAQQP PAAAPGRGPQ EAQRGGGCGG
Feature /change: GGGTPGRSPG QPHPGDRRGR VTSPRTCPPT RCTHLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #G57X73(1),#G57X73(1); standard; MUTATION;
Accession H0090
Systematic name Allele 1 and 2: g.4909delG, c.171delG, r.171delg,
Systematic name p.Lys58fsX16
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: D0024: 4909
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 199
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 57
Feature /change: G -> GRGRRAPPWS AGDRSTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 4909
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 199
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 57
Feature /change: G -> GRGRRAPPWS AGDRSTX
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #K58X73(1),#K58X73(1); standard; MUTATION;
Accession H0041
Systematic name Allele 1 and 2: g.4912delG, c.174delG, r.174delg,
Systematic name p.Lys58fsX16
Original code P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 30-Apr-2008 (Rel. 1, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 4912
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 202
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K -> KGRRAPPWSA GDRSTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 4912
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 202
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K -> KGRRAPPWSA GDRSTX
Phenotype A22 0
Diagnosis Classical chronic granulomatous disease
Age 3
Sex XY
Ethnic origin Caucasoid; Iran
Family history Inherited
Symptoms Multiple liver abscesses, cervical lymphadenitis
Cell tests Superoxide; Western blot;
Treatment Antibiotics;
//
ID @K58X212(2),@K58X212(2); standard; MUTATION;
Accession H0032
Systematic name Allele 1 and 2: g.4909dupG, c.171dupG, r.171dupg,
Systematic name p.Lys58fsX155
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
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: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
Phenotype A22 0
Sex XY
Family history Mother is carrier
//
ID @K58X212(3),@K58X212(3); standard; MUTATION;
Accession H0036
Systematic name Allele 1 and 2: g.4909dupG, c.171dupG, r.171dupg,
Systematic name p.Lys58fsX155
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
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: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
Phenotype A22 0
Sex XY
Family history Inherited, mother is carrier
//
ID @K58X212(4a),@K58X212(4a); standard; MUTATION;
Accession H0037
Systematic name Allele 1 and 2: g.4909dupG, c.171dupG, r.171dupg,
Systematic name p.Lys58fsX155
Original code P.14
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
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: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
Phenotype A22 0
Diagnosis Classical chronic granulomatous disease
Age 1.5
Sex XY
Ethnic origin Morocco
//
ID @K58X212(4b),@K58X212(4b); standard; MUTATION;
Accession H0070
Systematic name Allele 1 and 2: g.4909dupG, c.171dupG, r.171dupg,
Systematic name p.Lys58fsX155
Original code P.15
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
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: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
Diagnosis Classical chronic granulomatous disease
Age 2 mo
Sex XX
Ethnic origin Morocco
//
ID @K58X212(4c),@K58X212(4c); standard; MUTATION;
Accession H0071
Systematic name Allele 1 and 2: g.4909dupG, c.171dupG, r.171dupg,
Systematic name p.Lys58fsX155
Original code P.16
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
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: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
Diagnosis Classical chronic granulomatous disease
Age 2.5
Sex XX
Ethnic origin Morocco
//
ID @K58X212(5),@K58X212(5); standard; MUTATION;
Accession H0075
Systematic name Allele 1 and 2: g.4909dupG, c.171dupG, r.171dupg,
Systematic name p.Lys58fsX155
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0024: 4910
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 58
Feature /change: K ->
Feature /change: EEEEGLHHGA LGTEAHDRRG EAVRALYQEL LCSGRPASPA
Feature /change: LGARRLPAGH HPWDRLPGHC ERHLPTGGCA WRAVDAHRAQ
Feature /change: APGAAADRRH HQAAAQQPPA AAPGRGPQEA QRGGGCGGGG
Feature /change: GTPGRSPGQP HPGDRRGRVT SPRTCPPTRC THLQX
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #A75X77(1),#A75X77(1); standard; MUTATION;
Accession H0042
Systematic name Allele 1 and 2: g.5223delC, c.223delC, r.223delc,
Systematic name p.Ala75fsX3
Original code P2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon
Date 30-Apr-2008 (Rel. 1, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5223
Feature /change: -g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 251
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 75
Feature /change: A -> PWX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5223
Feature /change: -g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 251
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 75
Feature /change: A -> PWX
Phenotype A22 0
Diagnosis Classical chronic granulomatous disease
Age 4
Sex XY
Ethnic origin Caucasoid; Iran
Family history Inherited
Symptoms Recurrent pneumonia and cutaneous abscesses
Cell tests Superoxide; Western blot;
Treatment Prophylaxis; Antibiotics;
//
ID #P82X190(1),R90Q(1); standard; MUTATION;
Accession H0001
Systematic name Allele 1: g.5246delC, c.246delC, r.246delc, p.Pro82fsX109
Systematic name Allele 2: g.5269G>A, c.269G>A, r.269g>a, p.Arg90Gln
Original code G.S., P2 ref [1];IX-02 ref [2]
Description Allele 1: A frame shift deletion mutation in the exon 4
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 4 leading to an
Description amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 2243141
RefAuthors Dinauer, M. C., Pierce, E. A., Bruns, G. A., Curnutte, J.
RefAuthors T., Orkin, S. H.
RefTitle Human neutrophil cytochrome b light chain (p22-phox). gene
RefTitle structure, chromosomal location, and mutations in
RefTitle cytochrome-negative autosomal recessive chronic
RefTitle granulomatous disease.
RefLoc J Clin Invest 86:1729-1737 (1990)
RefNumber [2]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [3]
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: D0024: 5246
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 274
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 82
Feature /change: P ->
Feature /change: PLPGITMFGP SCISCSRCPP ASCWPPSLGP PAWPLRAAST
Feature /change: YWRLCVASSG RPSSPSPGSG RRSEAPSSSR PATPRRGPRP
Feature /change: RPARSPARRR LRRRRGDPRE VPRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> Q
Phenotype A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XY
//
ID #P82X190(2),#P82X190(2); standard; MUTATION;
Accession H0015
Systematic name Allele 1 and 2: g.5246delC, c.246delC, r.246delc,
Systematic name p.Pro82fsX109
Original code patient 3 ref [1]
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5246
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 274
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 82
Feature /change: P ->
Feature /change: PLPGITMFGP SCISCSRCPP ASCWPPSLGP PAWPLRAAST
Feature /change: YWRLCVASSG RPSSPSPGSG RRSEAPSSSR PATPRRGPRP
Feature /change: RPARSPARRR LRRRRGDPRE VPRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5246
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 274
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 82
Feature /change: P ->
Feature /change: PLPGITMFGP SCISCSRCPP ASCWPPSLGP PAWPLRAAST
Feature /change: YWRLCVASSG RPSSPSPGSG RRSEAPSSSR PATPRRGPRP
Feature /change: RPARSPARRR LRRRRGDPRE VPRSTPSRX
Phenotype A22 0
Protein level 0
Heme level N.d.
Oxidase act. 0
NBT-slide N.d.
Sex XX
Family history Both parents are carriers
//
ID Y87X(1),Y87X(1); standard; MUTATION;
Accession H0094
Systematic name Allele 1 and 2: g.5261C>G, c.261C>G, r.261c>g, p.Tyr87X
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5261
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 289
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 87
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5261
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 289
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 87
Feature /change: Y -> X
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Y87X(2),Y87X(2); standard; MUTATION;
Accession H0095
Systematic name Allele 1 and 2: g.5261C>A, c.261C>A, r.261c>a, p.Tyr87X
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5261
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 289
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 87
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5261
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 289
Feature /codon: tac -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 87
Feature /change: Y -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R90G(1),R90G(1); standard; MUTATION;
Accession H0067
Systematic name Allele 1 and 2: g.5268C>G, c.268C>G, r.268c>g, p.Arg90Gly
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> ggg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> G
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R90G(2),S118R(6); standard; MUTATION;
Accession H0102
Systematic name Allele 1: g.5268C>G, c.268C>G, r.268c>g, p.Arg90Gly
Systematic name Allele 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Original code NSP
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 5 leading to an
Description amino acid change
Date 23-Oct-2013 (Rel. 1, Created)
Date 23-Oct-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (23-Oct-2013) to CYBAbase.
RefLoc Antonio Ferreira; Unidad de Inmunologia. Planta sotano
RefLoc Hospital Infantil.Hospital La Paz.Castellana 261.28046
RefLoc Madrid. Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 90
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 118
Feature /change: S -> R
Protein level Absent
Activity Much reduced
Diagnosis Classical chronic granulomatous disease
Age 5.8
Sex female
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Mather and father carriers
Symptoms Aspergillus lung disease,cervical adenitis, submandibular
Symptoms lymphadenopaty,pubic abscess, purulent genital
Symptoms lesions,pneumonia.
Cell tests NBT test; DHR; Superoxide; Citometry
Treatment Prophylaxis; Antibiotics; Drainage;
//
ID R90P(1),R90P(1); standard; MUTATION;
Accession H0066
Systematic name Allele 1 and 2: g.5269G>C, c.269G>C, r.269g>c, p.Arg90Pro
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 5269
Feature /change: g -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> c
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> P
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R90Q(2a),R90Q(2a); standard; MUTATION;
Accession H0006
Systematic name Allele 1 and 2: g.5269G>A, c.269G>A, r.269g>a, p.Arg90Gln
Original code patient 1-3 ref [1];IX-04 ref [2]
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 3980731
RefAuthors Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van
RefAuthors Zwieten, R., Hamers, M. N., Roos, D.
RefTitle Cytochrome b deficiency in an autosomal form of chronic
RefTitle granulomatous disease. A third form of chronic
RefTitle granulomatous disease recognized by monocyte
RefTitle hybridization.
RefLoc J Clin Invest 75:915-920 (1985)
RefNumber [2]
RefCrossRef PUBMED; 1415254
RefAuthors de Boer, M., de Klein, A., Hossle, J. P., Seger, R.,
RefAuthors Corbeel, L., Weening, R. S., Roos, D.
RefTitle Cytochrome b558-negative, autosomal recessive chronic
RefTitle granulomatous disease: two new mutations in the cytochrome
RefTitle b558 light chain of the NADPH oxidase (p22-phox).
RefLoc Am J Hum Genet 51:1127-1135 (1992)
RefNumber [3]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [4]
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: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> Q
Phenotype A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XX
Family history Parents and sister are carriers
Relative CYBAbase; H0007 sister
Relative CYBAbase; H0008 brother
Comment Parents are first cousins, eldest brother died at age 5 of
Comment salmonella sepsis, youngest sister healthy; patient has
Comment died ('92: alive; hemiplegia, aphasia and rectosigmoidal
Comment stenosis)
//
ID R90Q(2b),R90Q(2b); standard; MUTATION;
Accession H0007
Systematic name Allele 1 and 2: g.5269G>A, c.269G>A, r.269g>a, p.Arg90Gln
Original code patient 1-3 ref [1];IX-04 ref [2]
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 3980731
RefAuthors Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van
RefAuthors Zwieten, R., Hamers, M. N., Roos, D.
RefTitle Cytochrome b deficiency in an autosomal form of chronic
RefTitle granulomatous disease. A third form of chronic
RefTitle granulomatous disease recognized by monocyte
RefTitle hybridization.
RefLoc J Clin Invest 75:915-920 (1985)
RefNumber [2]
RefCrossRef PUBMED; 1415254
RefAuthors de Boer, M., de Klein, A., Hossle, J. P., Seger, R.,
RefAuthors Corbeel, L., Weening, R. S., Roos, D.
RefTitle Cytochrome b558-negative, autosomal recessive chronic
RefTitle granulomatous disease: two new mutations in the cytochrome
RefTitle b558 light chain of the NADPH oxidase (p22-phox).
RefLoc Am J Hum Genet 51:1127-1135 (1992)
RefNumber [3]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [4]
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: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> Q
Phenotype A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XX
Family history Parents and sister are carriers
Relative CYBAbase; H0006 sister
Relative CYBAbase; H0008 brother
Comment Parents are first cousins, eldest brother died at age 5 of
Comment salmonelle sepsis, youngest sister healthy;patient died
Comment 1991 of generalized amyloidosis.
//
ID R90Q(2c),R90Q(2c); standard; MUTATION;
Accession H0008
Systematic name Allele 1 and 2: g.5269G>A, c.269G>A, r.269g>a, p.Arg90Gln
Original code patient 1-3 ref [1];IX-04 ref [2]
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 3980731
RefAuthors Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van
RefAuthors Zwieten, R., Hamers, M. N., Roos, D.
RefTitle Cytochrome b deficiency in an autosomal form of chronic
RefTitle granulomatous disease. A third form of chronic
RefTitle granulomatous disease recognized by monocyte
RefTitle hybridization.
RefLoc J Clin Invest 75:915-920 (1985)
RefNumber [2]
RefCrossRef PUBMED; 1415254
RefAuthors de Boer, M., de Klein, A., Hossle, J. P., Seger, R.,
RefAuthors Corbeel, L., Weening, R. S., Roos, D.
RefTitle Cytochrome b558-negative, autosomal recessive chronic
RefTitle granulomatous disease: two new mutations in the cytochrome
RefTitle b558 light chain of the NADPH oxidase (p22-phox).
RefLoc Am J Hum Genet 51:1127-1135 (1992)
RefNumber [3]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [4]
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: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5269
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 297
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> Q
Phenotype A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XY
Family history Parents and sister are carriers
Relative CYBAbase; H0006 sister
Relative CYBAbase; H0007 sister
Comment Parents are first cousins, eldest brother died at age 5 of
Comment salmonella sepsis, youngest sister healthy.
//
ID R90W(1),R90W(1); standard; MUTATION;
Accession H0018
Systematic name Allele 1 and 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Original code patient 6 ref [1]
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Phenotype A22 0
Protein level 0
Heme level <5
NBT-slide 0
Sex XX
Ethnic origin India
Family history Both parents are carriers
Comment Parents are first cousins
//
ID R90W(3),R90W(3); standard; MUTATION;
Accession H0055
Systematic name Allele 1 and 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R90W(4),R90W(4); standard; MUTATION;
Accession H0068
Systematic name Allele 1 and 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R90W(5),R90W(5); standard; MUTATION;
Accession H0087
Systematic name Allele 1 and 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R90W(7),R90W(7); standard; MUTATION;
Accession H0091
Systematic name Allele 1 and 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R90W(8),R90W(8); standard; MUTATION;
Accession H0096
Systematic name Allele 1 and 2: g.5268C>T, c.268C>T, r.268c>u, p.Arg90Trp
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5268
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 296
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 90
Feature /change: R -> W
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID H94R(1),H94R(1); standard; MUTATION;
Accession H0012
Systematic name Allele 1 and 2: g.5281A>G, c.281A>G, r.281a>g, p.His94Arg
Original code patient 4 ref [1];IX-05 ref [2]
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1415254
RefAuthors de Boer, M., de Klein, A., Hossle, J. P., Seger, R.,
RefAuthors Corbeel, L., Weening, R. S., Roos, D.
RefTitle Cytochrome b558-negative, autosomal recessive chronic
RefTitle granulomatous disease: two new mutations in the cytochrome
RefTitle b558 light chain of the NADPH oxidase (p22-phox).
RefLoc Am J Hum Genet 51:1127-1135 (1992)
RefNumber [2]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [3]
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: point
Feature /loc: IDRefSeq: D0024: 5281
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 309
Feature /codon: cat -> cgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 94
Feature /change: H -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5281
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 309
Feature /codon: cat -> cgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 94
Feature /change: H -> R
Phenotype A22 0
Protein level 0
Oxidase act. 0
Sex XX
Family history Mother is carrier
Comment Parents are first cousins
//
ID L96L(1),L96L(1); standard; MUTATION;
Accession H0097
Systematic name Allele 1 and 2: g.5845G>T, c.288G>T, r.288g>u, p.Leu96Leu
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5845
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 316
Feature /codon: ctg -> ctt; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 96
Feature /change: L -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5845
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 316
Feature /codon: ctg -> ctt; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 96
Feature /change: L -> L
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID L96P(1),S118R(7); standard; MUTATION;
Accession H0103
Systematic name Allele 1: g.5287T>C, c.287T>C, r.287u>c, p.Leu96Pro
Systematic name Allele 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Original code JSV
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 5 leading to an
Description amino acid change
Date 06-Nov-2013 (Rel. 1, Created)
Date 06-Nov-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (06-Nov-2013) to CYBAbase.
RefLoc Antonio Ferreira; Unidad de Inmunologia.Planta
RefLoc sotano-Hospital Infantil.Hospital La Paz. Castellana 261.
RefLoc 28046 Madrid. Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5287
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 315
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 96
Feature /change: L -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 118
Feature /change: S -> R
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Age 1
Sex male
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Father and mother carriers
Cell tests NBT test; DHR; Superoxide; Cytometry
Treatment Prophylaxis; Thoracic and abdominal lymphadenopathy,febrile
Treatment syndrome,gastroenteritis,oral thrush
//
ID #V99X188(1),#V99X188(1); standard; MUTATION;
Accession H0040
Systematic name Allele 1 and 2: g.5852_5858delGTGCCCG, c.295_301delGTGCCCG,
Systematic name r.295_301delgugcccg, p.ValfsX90
Original code CGD-275
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 13-Oct-2006 (Rel. 1, Created)
Date 10-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: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; CY24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; CY24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
Phenotype A22 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Negroid; Tunisia
//
ID #V99X188(2),#V99X188(2); standard; MUTATION;
Accession H0049
Systematic name Allele 1 and 2: g.5852_5858delGTGCCCG, c.295_301delGTGCCCG,
Systematic name r.295_301delgugcccg, p.ValfsX90
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #V99X188(3a),#V99X188(3a); standard; MUTATION;
Accession H0051
Systematic name Allele 1 and 2: g.5852_5858delGTGCCCG, c.295_301delGTGCCCG,
Systematic name r.295_301delgugcccg, p.ValfsX90
Original code J2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Jordan
Relative CYBAbase; H0052 sister
Symptoms Recurrent chest infections; Skin abscesses;
Symptoms Hepatosplenomegaly;
//
ID #V99X188(3b),#V99X188(3b); standard; MUTATION;
Accession H0052
Systematic name Allele 1 and 2: g.5852_5858delGTGCCCG, c.295_301delGTGCCCG,
Systematic name r.295_301delgugcccg, p.ValfsX90
Original code J3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18773283
RefAuthors Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A.,
RefAuthors El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A.,
RefAuthors Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle First report of clinical, functional, and molecular
RefTitle investigation of chronic granulomatous disease in nine
RefTitle jordanian families.
RefLoc J Clin Immunol:215-230 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5852..5858
Feature /change: -gtgcccg
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 323..329
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 99..101
Feature /change: VPA ->
Feature /change: PASCWPPSLG PPAWPLRAAS TYWRLCVASS GRPSSPSPGS
Feature /change: GRRSEAPSSS RPATPRRGPR PRPARSPARR RLRRRRGDPR
Feature /change: EVPRSTPSRX
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Jordan
Relative CYBAbase; H0051 sister
Symptoms Recurrent chest infections; Skin abscesses;
Symptoms Hepatosplenomegaly;
//
ID C113X(1),C113X(1); standard; MUTATION;
Accession H0064
Systematic name Allele 1 and 2: g.5896C>A, c.339C>A, r.339c>a, p.Cys113X
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 5896
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 367
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 113
Feature /change: C -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5896
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 367
Feature /codon: tgc -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 113
Feature /change: C -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID S118R(1),S118R(1); standard; MUTATION;
Accession H0003
Systematic name Allele 1 and 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 4)
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: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
Phenotype A22 0
Protein level 0
Oxidase act. 0
NBT-slide 0
Symptoms Severe CGD
Sex XX
Ethnic origin Caucasian (Polish)
Family history Parents carriers, sister normal
//
ID S118R(2),S118R(2); standard; MUTATION;
Accession H0010
Systematic name Allele 1 and 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Original code O.P., P3 ref [1];IX-03 ref [2]
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 2243141
RefAuthors Dinauer, M. C., Pierce, E. A., Bruns, G. A., Curnutte, J.
RefAuthors T., Orkin, S. H.
RefTitle Human neutrophil cytochrome b light chain (p22-phox). gene
RefTitle structure, chromosomal location, and mutations in
RefTitle cytochrome-negative autosomal recessive chronic
RefTitle granulomatous disease.
RefLoc J Clin Invest 86:1729-1737 (1990)
RefNumber [2]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [3]
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: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
Phenotype A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XX
Comment Parents are second cousins
//
ID S118R(3),S118R(3); standard; MUTATION;
Accession H0022
Systematic name Allele 1 and 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Original code patient 9 ref [1]
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
Phenotype A22 0
Protein level 0
NBT-slide 0
Sex XX
Ethnic origin Hispanic
Family history Both parents are carriers
//
ID S118R(4),S118R(4); standard; MUTATION;
Accession H0098
Systematic name Allele 1 and 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 118
Feature /change: S -> R
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID S118R(5),S118R(5); standard; MUTATION;
Accession H0101
Systematic name Allele 1 and 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Original code GCT
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 09-Oct-2013 (Rel. 1, Created)
Date 09-Oct-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (09-Oct-2013) to CYBAbase.
RefLoc Antonio Ferreira; Unidad de Inmunologia.Planta sotano
RefLoc Hospital Infantil.Hospital La Paz. Castellana 261. 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: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 118
Feature /change: S -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 118
Feature /change: S -> R
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Age 0.8
Sex male
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Mother and brother carriers
Symptoms lymphadenopathy,splenic abscesses,hepatomegaly
Cell tests NBT test; DHR; Superoxide; Citometry
Treatment Prophylaxis;
//
ID S118R(8),S118R(8); standard; MUTATION;
Accession H0106
Systematic name Allele 1 and 2: g.5911C>A, c.354C>A, r.354c>a, p.Ser118Arg
Original code CCG
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 06-Nov-2013 (Rel. 1, Created)
Date 06-Nov-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (06-Nov-2013) to CYBAbase.
RefLoc Antonio Ferreira; Unidad de Inmunologia.Planta
RefLoc sotano-Hospital Infantil.Hospital La Paz. Castellana 261.
RefLoc 28046 Madrid. Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 118
Feature /change: S -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5911
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 382
Feature /codon: agc -> aga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 118
Feature /change: S -> R
Protein level Absent
Activity Much reduced
Diagnosis Classical chronic granulomatous disease
Sex female
Ethnic origin Caucasoid
Relative Father and mother carriers
Cell tests NBT test; DHR; Superoxide; Cytometry
Treatment Prophylaxis;
//
ID L123L(1a),L123L(1a); standard; MUTATION;
Accession H0045
Systematic name Allele 1 and 2: g.5926G>A, c.369G>A, r.369g>a, p.Leu123Leu
Original code P5
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 30-Apr-2008 (Rel. 1, Created)
Date 30-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5926
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 397
Feature /codon: ctg -> cta; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 123
Feature /change: L -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5926
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 397
Feature /codon: ctg -> cta; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 123
Feature /change: L -> L
Diagnosis Classical chronic granulomatous disease
Age 8
Sex XY
Ethnic origin Caucasoid; Iran
Family history Inherited
Relative CYBAbase; H0046brother
Symptoms Pneumonia and chest wall abscess.
Cell tests Superoxide; Western blot;
Treatment Prophylaxis; Antibiotics; Gamma-interferon; Removal;
//
ID L123L(1b),L123L(1b); standard; MUTATION;
Accession H0046
Systematic name Allele 1 and 2: g.5926G>A, c.369G>A, r.369g>a, p.Leu123Leu
Original code P6
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 30-Apr-2008 (Rel. 1, Created)
Date 30-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5926
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 397
Feature /codon: ctg -> cta; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 123
Feature /change: L -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5926
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 397
Feature /codon: ctg -> cta; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 123
Feature /change: L -> L
Diagnosis Classical chronic granulomatous disease
Age 6
Sex XY
Ethnic origin Caucasoid; Iran
Family history Inherited
Relative CYBAbase; H0045brother
Symptoms Recurrent diarrhea, recurrent skin infections, liver
Symptoms abscess and pneumonia. Fungal endocarditis caused by A.
Symptoms funigatus lead to his death because of uncontrolled heart
Symptoms failure.
Cell tests Superoxide; Western blot;
//
ID A124S(1),A124S(1); standard; MUTATION;
Accession H0048
Systematic name Allele 1 and 2: g.8471G>T, c.370G>T, r.370g>u, p.Ala124Ser
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 8471
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 398
Feature /codon: gcg -> tcg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 124
Feature /change: A -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 8471
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 398
Feature /codon: gcg -> tcg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 124
Feature /change: A -> S
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID A125T(1),A125T(1); standard; MUTATION;
Accession H0047
Systematic name Allele 1 and 2: g.8474G>A, c.373G>A, r.373g>a, p.Ala125Thr
Original code P8
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 30-Apr-2008 (Rel. 1, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 8474
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 401
Feature /codon: gct -> act; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 125
Feature /change: A -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 8474
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 401
Feature /codon: gct -> act; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 125
Feature /change: A -> T
Phenotype A22 0
Diagnosis Classical chronic granulomatous disease
Age 18
Sex XY
Ethnic origin Caucasoid; Iran
Family history Inherited
Symptoms Pneumonia and liver abscess.
Cell tests Superoxide; Western blot;
Treatment Prophylaxis; Antibiotics; Gamma-interferon;
//
ID #E129X189(1),#E129X189(1); standard; MUTATION;
Accession H0043
Systematic name Allele 1 and 2: g.8486_8489delGAGC, c.385_388delGAGC,
Systematic name r.385_388delgagc, p.Glu129fsX61
Original code P3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 30-Apr-2008 (Rel. 1, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8486..8489
Feature /change: -gagc
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 413..416
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 129..130
Feature /change: EQ ->
Feature /change: SGRPSSPSPG SGRRSEAPSS SRPATPRRGP RPRPARSPAR
Feature /change: RRLRRRRGDP REVPRSTPSR X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8486..8489
Feature /change: -gagc
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 413..416
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 129..130
Feature /change: EQ ->
Feature /change: SGRPSSPSPG SGRRSEAPSS SRPATPRRGP RPRPARSPAR
Feature /change: RRLRRRRGDP REVPRSTPSR X
Phenotype A22 0
Diagnosis Classical chronic granulomatous disease
Age 4
Sex XX
Ethnic origin Caucasoid; Iran
Family history Inherited
Symptoms Right axillary adenitis and liver abscess
Cell tests Superoxide; Western blot;
Treatment Antibiotics; Gamma-interferon; Drainage; Removal;
//
ID #E129X189(2),#E129X189(2); standard; MUTATION;
Accession H0044
Systematic name Allele 1 and 2: g.8486_8489delGAGC, c.385_388delGAGC,
Systematic name r.385_388delgagc, p.Glu129fsX61
Original code P4
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 30-Apr-2008 (Rel. 1, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8486..8489
Feature /change: -gagc
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 413..416
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 129..130
Feature /change: EQ ->
Feature /change: SGRPSSPSPG SGRRSEAPSS SRPATPRRGP RPRPARSPAR
Feature /change: RRLRRRRGDP REVPRSTPSR X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8486..8489
Feature /change: -gagc
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 413..416
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 129..130
Feature /change: EQ ->
Feature /change: SGRPSSPSPG SGRRSEAPSS SRPATPRRGP RPRPARSPAR
Feature /change: RRLRRRRGDP REVPRSTPSR X
Phenotype A22 0
Diagnosis Classical chronic granulomatous disease
Age 6
Sex XY
Ethnic origin Caucasoid; Iran
Family history Inherited
Symptoms Chronic otitis media, recurrent skin infections, diarrhea
Symptoms and a leg abscess
Cell tests Superoxide; Western blot;
//
ID #P133X190(1),#P133X190(1); standard; MUTATION;
Accession H0088
Systematic name Allele 1 and 2: g.8500delC, c.399delC, r.399delc,
Systematic name p.Pro134fsX57
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: D0024: 8500
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 133
Feature /change: P ->
Feature /change: PSSPSPGSGR RSEAPSSSRP ATPRRGPRPR PARSPARRRL
Feature /change: RRRRGDPREV PRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8500
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 133
Feature /change: P ->
Feature /change: PSSPSPGSGR RSEAPSSSRP ATPRRGPRPR PARSPARRRL
Feature /change: RRRRGDPREV PRSTPSRX
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #P136X190(1),#P136X190(1); standard; MUTATION;
Accession H0074
Systematic name Allele 1 and 2: g.8509delC, c.408delC, r.408delc,
Systematic name p.Pro136fsX55
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 8509
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 436
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 136
Feature /change: P ->
Feature /change: PSPGSGRRSE APSSSRPATP RRGPRPRPAR SPARRRLRRR
Feature /change: RGDPREVPRS TPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8509
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 436
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 136
Feature /change: P ->
Feature /change: PSPGSGRRSE APSSSRPATP RRGPRPRPAR SPARRRLRRR
Feature /change: RGDPREVPRS TPSRX
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID A124G(1),A124G(1); standard; MUTATION;
Accession H0107
Systematic name Allele 1 and 2: g.8472_8475delCGGC, c.371_374delCGGC,
Systematic name r.371_374delcggc, p.Ala124Gly
Original code ABTR
Description Allele 1 and 2: A deletion mutation in the exon 6 leading
Description to an amino acid change
Date 06-Oct-2015 (Rel. 1, Created)
Date 06-Oct-2015 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (06-Oct-2015) to CYBAbase.
RefLoc Antonio Ferreira; Immunology Unit-Hospital Materno
RefLoc Infantil-Hospital La Paz-Castellana 261-28046 Madrid-Spain;
RefLoc Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8472..8475
Feature /change: cggc -> ggct
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 399..402
Feature /codon: gcg -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 124..125
Feature /change: AA -> GL
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8472..8475
Feature /change: cggc -> ggct
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 399..402
Feature /codon: gcg -> ggg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: C24A_HUMAN: 124..125
Feature /change: AA -> GL
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Age 11
Sex FEMALE
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Father and mother carriers
Symptoms Adenophlegmon,chorioretinitis,pulmonary
Symptoms tuberculosis,hepatic abscesses
Cell tests NBT test; DHR; Superoxide; cytometry
Treatment Prophylaxis; Drainage;
//
ID P156Q(1),P156Q(1); standard; MUTATION;
Accession H0011
Systematic name Allele 1 and 2: g.8568C>A, c.467C>A, r.467c>a, p.Pro156Gln
Original code IX-09 ref [2]
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 1763037
RefAuthors Dinauer, M. C., Pierce, E. A., Erickson, R. W., Muhlebach,
RefAuthors T. J., Messner, H., Orkin, S. H., Seger, R. A., Curnutte,
RefAuthors J. T.
RefTitle Point mutation in the cytoplasmic domain of the neutrophil
RefTitle p22-phox cytochrome b subunit is associated with a
RefTitle nonfunctional NADPH oxidase and chronic granulomatous
RefTitle disease.
RefLoc Proc Natl Acad Sci U S A 88:11231-11235 (1991)
RefNumber [2]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [3]
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: point
Feature /loc: IDRefSeq: D0024: 8568
Feature /change: c -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 495
Feature /codon: ccg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 156
Feature /change: P -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 8568
Feature /change: c -> a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 495
Feature /codon: ccg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13498; C24A_HUMAN: 156
Feature /change: P -> Q
Phenotype A22 +
Protein level +
Oxidase act. 0
Symptoms Severe CGD
Sex XX
Comment Parents are consanguineous
//
ID #R158X186(1),#R158X186(1); standard; MUTATION;
Accession H0031
Systematic name Allele 1 and 2: g.8573_8585delCGGCCCCCGGCCG,
Systematic name c.472_484delCGGCCCCCGGCCG, r.472_484delcggcccccggccg,
Systematic name p.Arg158fsX29
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8573..8585
Feature /change: -cggcccccgg ccg
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 500..512
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 158..162
Feature /change: RPPAE -> RPARSPARRR LRRRRGDPRE VPRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8573..8585
Feature /change: -cggcccccgg ccg
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 500..512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 158..162
Feature /change: RPPAE -> RPARSPARRR LRRRRGDPRE VPRSTPSRX
Phenotype A 22 ?
//
ID #T191X208(1),#T191X208(1); standard; MUTATION;
Accession H0053
Systematic name Allele 1 and 2: g.8672_8705del, c.571_604del, r.571_604del,
Systematic name p.Thr191fsX18
Original code P22-5
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10914676
RefAuthors Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I.,
RefAuthors Kanegasaki, S.
RefTitle Statistical and mutational analysis of chronic
RefTitle granulomatous disease in japan with special reference to
RefTitle gp91-phox and p22-phox deficiency.
RefLoc Hum Genet:473-481 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8672..8705
Feature /change: -accgacgagg tcgtgtgacc tcgccccgga cctg
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 599..632
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 191..202
Feature /change: TDEVVXPRPG PA -> PSHQVHPPAI NAAKAGKK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 8672..8705
Feature /change: -accgacgagg tcgtgtgacc tcgccccgga cctg
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0024; GI:115210; CYBAC: 599..632
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; C24A_HUMAN: 191..202
Feature /change: TDEVVXPRPG PA -> PSHQVHPPAI NAAKAGKK
Diagnosis Classical chronic granulomatous disease
//
ID Intron 1(2),Intron 1(2); standard; MUTATION;
Accession H0039
Systematic name Allele 1 and 2: g.1090_1093delAGTG, c.58+4_58+7delAGTG,
Systematic name r.58+4_58+7delagug
Description Allele 1 and 2: A deletion in the intron 1 leading to
Description aberrant splicing
Date 12-Oct-2006 (Rel. 1, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16157492
RefAuthors de Boer, M., Hartl, D., Wintergerst, U., Belohradsky, B.
RefAuthors H., Roos, D.
RefTitle A donor splice site mutation in intron 1 of CYBA, leading
RefTitle to chronic granulomatous disease.
RefLoc Blood Cells Mol Dis:365-369 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; Romania
Symptoms Special form of lung disease combined with celiac disease
//
ID Intron 1(3),Intron 1(3); standard; MUTATION;
Accession H0062
Systematic name Allele 1 and 2: g.1090_1093delAGTG, c.58+4_58+7delAGTG,
Systematic name r.58+4_58+7delagug
Description Allele 1 and 2: A deletion in the intron 1 leading to
Description aberrant splicing
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Intron 1(3),Intron 1(3); standard; MUTATION;
Accession H0063
Systematic name Allele 1 and 2: g.1090_1093delAGTG, c.58+4_58+7delAGTG,
Systematic name r.58+4_58+7delagug
Description Allele 1 and 2: A deletion in the intron 1 leading to
Description aberrant splicing
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Intron 1(4),Intron 1(4); standard; MUTATION;
Accession H0093
Systematic name Allele 1 and 2: g.1090_1093delAGTG, c.58+4_58+7delAGTG,
Systematic name r.58+4_58+7delagug
Description Allele 1 and 2: A deletion in the intron 1 leading to
Description aberrant splicing
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 1090..1093
Feature /change: -agtg
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Intron 3(1),Intron 3(1); standard; MUTATION;
Accession H0016
Systematic name Allele 1 and 2: g.4942G>T, c.203+1G>T, r.203+1g>u
Original code patient 4 ref [1]
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood 96:1106-1112 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis 26:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0024: 4942
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 4942
Feature /change: g -> t
Feature /genomic_region: intron; 3
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 A22 0
Protein level 0
Heme level N.d.
NBT-slide 0
Sex XX
Family history Mother is carrier, father's genotype unknown
//
ID Intron 3(2),Intron 3(2); standard; MUTATION;
Accession H0099
Systematic name Allele 1 and 2: g.5202A>G, c.204-2A>G, r.204-2a>g
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-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: point
Feature /loc: IDRefSeq: D0024: 5202
Feature /change: a -> g
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5202
Feature /change: a -> g
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Intron 4(1),Intron 4(1); standard; MUTATION;
Accession H0009
Systematic name Allele 1 and 2: g.5288G>A, c.287+1G>A, r.287+1g>a
Original code patient 5 ref [1];IX-07 ref [2]
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 1415254
RefAuthors de Boer, M., de Klein, A., Hossle, J. P., Seger, R.,
RefAuthors Corbeel, L., Weening, R. S., Roos, D.
RefTitle Cytochrome b558-negative, autosomal recessive chronic
RefTitle granulomatous disease: two new mutations in the cytochrome
RefTitle b558 light chain of the NADPH oxidase (p22-phox).
RefLoc Am J Hum Genet 51:1127-1135 (1992)
RefNumber [2]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [3]
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: point
Feature /loc: IDRefSeq: D0024: 5288
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5288
Feature /change: g -> a
Feature /genomic_region: intron; 4
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 A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XY
Comment Parents are first cousins
//
ID Intron 4(2),Intron 4(2); standard; MUTATION;
Accession H0035
Systematic name Allele 1 and 2: g.5288G>A, c.287+1G>A, r.287+1g>a
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 2, Last updated, Version 2)
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: D0024: 5288
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5288
Feature /change: g -> a
Feature /genomic_region: intron; 4
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 A22
Sex XY
Family history Inherited, mother is carrier
Comment Father of mother and brother are normal
//
ID Intron 4(3),Intron 4(3); standard; MUTATION;
Accession H0038
Description Allele 1 and 2: a 36 basepair deletion at the intron 4 /
Description exon 5 splice site leading to frameshift and stop codon
Date 21-Jul-2006 (Rel. 1, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (12-Jul-2004) to CYBAbase.
RefLoc STASIA; GREPI EA 2938 UJF,Lab Enzymologie CHU de Grenoble,
RefLoc BP217 38043 Grenoble FRANCE; Tel 33.4.76.76.54.83; Fax
RefLoc 33.4.76.76.56.08; e-mail MJStasia@chu-grenoble.fr
RefNumber [2]
RefCrossRef PUBMED; 12073015
RefAuthors Stasia, M. J., Bordigoni, P., Martel, C., Morel, F.
RefTitle A novel and unusual case of chronic granulomatous disease
RefTitle in a child with a homozygous 36-bp deletion in the CYBA
RefTitle gene (A22(0)) leading to the activation of a cryptic
RefTitle splice site in intron 4.
RefLoc Hum Genet:444-450 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5830..5865
Feature /change: -cccgctgtcc cccaggctct cggtgcccgc cggctt
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: indel; frameshift
Feature /loc: EMBL: M21186; GI:115210; M21186: 316
Feature /change: gctctcggtg cccgccggct t ->
Feature /change: tgcaccagag ccgctagtgt ccacatcaag gctgagaaca
Feature /change: cccaggaccg aaacaagccc cggtccgcgc acgtcccctg
Feature /change: ggtctgcagt ctgccttgtc ctgagacttt gtggccttgg
Feature /change: cccccagacc tggggctccg ttcccctttc tgagtgccct
Feature /change: tctgtgtccc tgcctctca
Feature /note: insertion of 179 nt from intron 4
Feature /inexloc: -15
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; CY24A_HUMAN: 96..103
Feature /change: LLSVPAGF ->
Feature /change: LAPEPLVSTS RLRTPRTETS PGPRTSPGSA VCLVLRLCGL
Feature /change: GPQTWGSVPL SECPSVSLPL TCWPPSLGPP AWPLRAASTY
Feature /change: WRLCVASSGR PSSPSPGSGR RSEAPSSSRP ATPRRGPRPR
Feature /change: PARSPARRRL RRRRGDPREV PRSTPSRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0024: 5830..5865
Feature /change: -cccgctgtcc cccaggctct cggtgcccgc cggctt
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: indel; frameshift
Feature /loc: EMBL: M21186; GI:115210; M21186: 316
Feature /change: gctctcggtg cccgccggct t ->
Feature /change: tgcaccagag ccgctagtgt ccacatcaag gctgagaaca
Feature /change: cccaggaccg aaacaagccc cggtccgcgc acgtcccctg
Feature /change: ggtctgcagt ctgccttgtc ctgagacttt gtggccttgg
Feature /change: cccccagacc tggggctccg ttcccctttc tgagtgccct
Feature /change: tctgtgtccc tgcctctca
Feature /note: insertion of 179 nt from intron 4
Feature /inexloc: -15
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13498; CY24A_HUMAN: 96..103
Feature /change: LLSVPAGF ->
Feature /change: LAPEPLVSTS RLRTPRTETS PGPRTSPGSA VCLVLRLCGL
Feature /change: GPQTWGSVPL SECPSVSLPL TCWPPSLGPP AWPLRAASTY
Feature /change: WRLCVASSGR PSSPSPGSGR RSEAPSSSRP ATPRRGPRPR
Feature /change: PARSPARRRL RRRRGDPREV PRSTPSRX
Phenotype A22 0
Diagnosis Severe combined immunodeficiency
Symptoms Severe
Sex XX
Ethnic origin Caucasoid; FRANCE
//
ID Intron 4(4),Intron 4(4); standard; MUTATION;
Accession H0072
Systematic name Allele 1 and 2: g.5288G>T, c.287+1G>T, r.287+1g>u
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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: D0024: 5288
Feature /change: g -> t
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5288
Feature /change: g -> t
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Intron 5(1),Intron 5(1); standard; MUTATION;
Accession H0002
Systematic name Allele 1 and 2: g.5927G>C, c.369+1G>C, r.369+1g>c
Original code IX-08 ref [2]
Description Allele 1 and 2: A point mutation in the intron 5 leading to
Description aberrant splicing
Date 30-Jul-2002 (Rel. 2, Created)
Date 10-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8723692
RefAuthors Porter, C. D., Parkar, M. H., Kinnon, C.
RefTitle Identification of a donor splice site mutation leading to
RefTitle loss of p22-phox exon 5 in autosomal chronic granulomatous
RefTitle disease.
RefLoc Hum Mutat 7:374 (1996)
RefNumber [2]
RefCrossRef PUBMED; 8634410
RefAuthors Roos, D., de Boer, M., Kuribayashi, F., Meischl, C.,
RefAuthors Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K.,
RefAuthors Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-
RefAuthors Price, H.
RefTitle Mutations in the X-linked and autosomal recessive forms of
RefTitle chronic granulomatous disease.
RefLoc Blood 87:1663-1681 (1996)
RefNumber [3]
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: point
Feature /loc: IDRefSeq: D0024: 5927
Feature /change: g -> c
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0024: 5927
Feature /change: g -> c
Feature /genomic_region: intron; 5
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 A22 0
Protein level 0
Oxidase act. 0
Symptoms Severe CGD
Sex XX
//
ID Deletion(1),Deletion(1); standard; MUTATION;
Accession H0050
Systematic name Allele 1 and 2: c.59-?_203+?del
Description Allele 1 and 2: Deletion of exon 2_3
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10910929
RefAuthors Rae, J., Noack, D., Heyworth, P. G., Ellis, B. A.,
RefAuthors Curnutte, J. T., Cross, A. R.
RefTitle Molecular analysis of 9 new families with chronic
RefTitle granulomatous disease caused by mutations in CYBA, the
RefTitle gene encoding p22(phox).
RefLoc Blood:1106-1112 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /genomic_region: exon; 2_3
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 /genomic_region: exon; 2_3
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
Age 2
Sex XY
Ethnic origin Spain
Symptoms Recurrent cervical adenitis; Inguinal lymphadenitis;
Symptoms Perirectal abscess;
Comment A male sibling of the patient died of sudden onset of
Comment gastrointestinal infection at age 4 months.
//
ID Deletion(2),Deletion(2); standard; MUTATION;
Accession H0065
Systematic name Allele 1 and 2: c.129-?_585+?del
Description Allele 1 and 2: Deletion of exon 3_6
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-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 /genomic_region: exon; 3_6
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 /genomic_region: exon; 3_6
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 Deletion(3),Deletion(3); standard; MUTATION;
Accession H0073
Systematic name Allele 1 and 2: c.129-?_369+?del
Description Allele 1 and 2: Deletion of exon 3_6
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18422995
RefAuthors Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A.,
RefAuthors Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh,
RefAuthors N.
RefTitle Characterization of six novel mutations in CYBA: the gene
RefTitle causing autosomal recessive chronic granulomatous disease.
RefLoc Br J Haematol:848-851 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /genomic_region: exon; 3_5
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 /genomic_region: exon; 3_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 XX
//
//
|
