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   CYBBbase
   Variation registry for  X-linked chronic granulomatous disease (XCGD)


Database        CYBBbase
Version         2.2
File            cybbpub.html
Date            16-Dec-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/CYBBbase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF38.html
Gene            CYBB
Disease         X-linked chronic granulomatous disease
OMIM            306400
GDB             120513
Sequence        IDRefSeq:D0025; IDRefSeq:C0025; GenBank:NP_000388
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              &Y30(1); standard; MUTATION; NTERM
Accession       A0682
Systematic name g.3069_3071delinsGGT, c.90_92delinsGGT, r.90_92delinsggu,
Systematic name p.Tyr30fsX2
Description     A complex mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12139950
RefAuthors      Jirapongsananuruk, O., Niemela, J. E., Malech, H. L., 
RefAuthors      Fleisher, T. A.
RefTitle        CYBB mutation analysis in X-linked chronic granulomatous 
RefTitle        disease.
RefLoc          Clin Immunol:73-76 (2002)
RefNumber       [2]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: complex
Feature           /loc: IDRefSeq: D0025: 3069..3071
Feature           /change: ccg -> ggt
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: complex
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 104..106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: complex
Feature           /loc: GenBank: NP_000388: 30..31
Feature           /change: YR -> XV
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              &L110(1); standard; MUTATION; NTERM
Accession       A0819
Systematic name g.12985_12986delinsAT, c.330_331delinsAT,
Systematic name r.330_331delinsau, p.His111fsX
Description     A complex mutation in the exon 4 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: complex
Feature           /loc: IDRefSeq: D0025: 12985..12986
Feature           /change: tc -> at
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: complex
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 344..345
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: complex
Feature           /loc: GenBank: NP_000388: 110..111
Feature           /change: LH -> LY
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @R198X227(1); standard; MUTATION; NTERM
Accession       A1415
Systematic name g.16991_16992ins, c.591_592ins41, r.591_592ins41,
Systematic name p.Arg198fsX30
Description     A frame shift insertion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            15-Sep-2010 (Rel. 2, Created)
Date            15-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0025: 16992
Feature           /change: +accccctctt tgaataatcc taatcatccc tcacagacat c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 606
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 198
Feature           /change: R -> TPSLNNPNHP SQTSGGLTLK SFGTHIISLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              &N470X501(1); standard; MUTATION; NADPHBR
Accession       A1256
Systematic name g.27416_27423delinsTGTTGTA, c.1407_1414delinsTGTTGTA,
Systematic name r.1407_1414delinsuguugua, p.Asn470fsX31
Description     An indel mutation in the exon 11 leading to an amino acid
Description     change and premature stop codon in the NADPHBR domain
Date            07-Sep-2010 (Rel. 2, Created)
Date            07-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 27416..27423
Feature           /change: caatgccg -> tgttgta
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 1421..1428
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /change: NNAG -> NV VASSATTSTS LAGMSLRPIT LLCTMMRRKM X
Feature           /domain: NADPHBR
Diagnosis       Classical X-linked CGD
//
ID              M1K(1); standard; MUTATION; NTERM
Accession       A0411
Systematic name g.1016T>A, c.2T>A, r.2u>a, p.Met1Lys
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1016
Feature           /change: t -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 16
Feature           /codon: atg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 1
Feature           /change: M -> K
Feature           /domain: NTERM
Phenotype       X91 -
Sex             XY
Family history  Inherited, mother is carrier
//
ID              M1R(1); standard; MUTATION; NTERM
Accession       A0412
Systematic name g.1016T>G, c.2T>G, r.2u>g, p.Met1Arg
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1016
Feature           /change: t -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 16
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 1
Feature           /change: M -> R
Feature           /domain: NTERM
Phenotype       X91 -
Sex             XY
Family history  Inherited, mother is carrier
Comment         Sister is carrier
//
ID              M1V(1); standard; MUTATION; NTERM
Accession       A0242
Systematic name g.1015A>G, c.1A>G, r.1a>g, p.Met1Val
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1015
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 15
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 1
Feature           /change: M -> V
Feature           /domain: NTERM
Phenotype       X91 0
Oxidase act.    Strongly decreased
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (Italian)
//
ID              M1V(2); standard; MUTATION; NTERM
Accession       A0653
Systematic name g.1015A>G, c.1A>G, r.1a>g, p.Met1Val
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1015
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 15
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 1
Feature           /change: M -> V
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              M1V(3); standard; MUTATION; NTERM
Accession       A0654
Systematic name g.1015A>G, c.1A>G, r.1a>g, p.Met1Val
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1015
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 15
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 1
Feature           /change: M -> V
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              M1V(4); standard; MUTATION; NTERM
Accession       A0655
Systematic name g.1015A>G, c.1A>G, r.1a>g, p.Met1Val
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1015
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 15
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 1
Feature           /change: M -> V
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              M1V(5); standard; MUTATION; NTERM
Accession       A1443
Systematic name g.1015A>G, c.1A>G, r.1a>g, p.Met1Val
Original code   JMMR
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the NTERM domain
Date            09-Dec-2015 (Rel. 2, Created)
Date            09-Dec-2015 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (09-Dec-2015) to CYBBbase.
RefLoc          Antonio Ferreira; Unidad de Inmunologia-Planta
RefLoc          sotano-Hospital Infantil-Hospital La Paz; Tel 917277238;
RefLoc          Fax 917277095; e-mail antonio.ferreira@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1015
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 15
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 1
Feature           /change: M -> V
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Low birth weight, pneumonia, ear infections, salmonellosis,
Symptoms        sinusitis, urethral stricture.
Age             7,00
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:Mother carrier,brother died with
Relative        CGD
//
ID              @N3X8(1); standard; MUTATION; NTERM
Accession       A0346
Systematic name g.1020dupG, c.6dupG, r.6dupg, p.Asn3fsX6
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, 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
RefNumber       [2]
RefCrossRef     PUBMED; 15575848
RefAuthors      Vieira, A. P., Vasconcelos, J., Fernandes, J. C., Antunes,
RefAuthors      H., Basto, A. S., Macedo, C., Zaman, A., Santos, E., Melo,
RefAuthors      J. C., Roos, D.
RefTitle        Lymphadenopathy after BCG vaccination in a child with 
RefTitle        chronic granulomatous disease 
RefLoc          Pediatr Dermatol. 21:646-651 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 1021
Feature           /change: +g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 21
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 3
Feature           /change: N -> ELGCEX
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              @N3X8(2); standard; MUTATION; NTERM
Accession       A0656
Systematic name g.1020dupG, c.6dupG, r.6dupg, p.Asn3fsX6
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 1021
Feature           /change: +g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 21
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 3
Feature           /change: N -> ELGCEX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @N3X8(3); standard; MUTATION; NTERM
Accession       A0657
Systematic name g.1022dupA, c.8dupA, r.8dupa, p.Asn3fsX6
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 1023
Feature           /change: +a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 23
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 3
Feature           /change: N -> KLGCEX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              W4X(1); standard; MUTATION; NTERM
Accession       A0108
Systematic name g.1026G>A, c.12G>A, r.12g>a, p.Trp4X
Original code   III-01 ref [2]
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1026
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 26
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Symptoms        Classical CGD
Sex             XY
//
ID              W4X(2); standard; MUTATION; NTERM
Accession       A0260
Systematic name g.1025G>A, c.11G>A, r.11g>a, p.Trp4X
Original code   VIII-01 ref [1]
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1025
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 25
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
//
ID              W4X(3); standard; MUTATION; NTERM
Accession       A0490
Systematic name g.1025G>A, c.11G>A, r.11g>a, p.Trp4X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1025
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 25
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 0
Family history  Inherited, mother carrier
Comment         Prenatal: fetus is affected
//
ID              W4X(4); standard; MUTATION; NTERM
Accession       A0491
Systematic name g.1026G>A, c.12G>A, r.12g>a, p.Trp4X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1026
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 26
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              W4X(5a); standard; MUTATION; NTERM
Accession       A0492
Systematic name g.1026G>A, c.12G>A, r.12g>a, p.Trp4X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1026
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 26
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother carrier
Relative        CYBBbase; A0493 twin brother
//
ID              W4X(5b); standard; MUTATION; NTERM
Accession       A0493
Systematic name g.1026G>A, c.12G>A, r.12g>a, p.Trp4X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            26-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
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1026
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 26
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother carrier
Relative        CYBBbase; A0492 twin brother
//
ID              W4X(6); standard; MUTATION; NTERM
Accession       A0658
Systematic name g.1025G>A, c.11G>A, r.11g>a, p.Trp4X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1025
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 25
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              W4X(7); standard; MUTATION; NTERM
Accession       A0659
Systematic name g.1026G>A, c.12G>A, r.12g>a, p.Trp4X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 1026
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 26
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 4
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #A5X29(1); standard; MUTATION; NTERM
Accession       A0305
Systematic name g.1028_1041delCTGTGAATGAGGGG, c.14_27delCTGTGAATGAGGGG,
Systematic name r.14_27delcugugaaugagggg, p.Val6fsX24
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 1028..1041
Feature           /change: -ctgtgaatga gggg
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 28..41
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 5..9
Feature           /change: AVNEG -> ALHFCHSGLA GVERLPLCLV LPGLX
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              #G9X21(1); standard; MUTATION; NTERM
Accession       A0660
Systematic name g.1041delG, c.27delG, r.27delg, p.Leu10fsX12
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 1041
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 41
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 9
Feature           /change: G -> GSPFLSFWFG WGX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @G9X35(1); standard; MUTATION; NTERM
Accession       A0334
Systematic name g.1037_1040dup, c.23_26dup, r.23_26dup, p.Leu10fsX26
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 1041
Feature           /change: +aggg
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 41
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 9
Feature           /change: G -> GGALHFCHSG LAGVERLPLC LVLPGLX
Feature           /domain: NTERM
//
ID              @L10X34(1); standard; MUTATION; NTERM
Accession       A0557
Systematic name g.1041dupG, c.27dupG, r.27dupg, p.Leu10fsX25
Original code   Patient 3
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the NTERM domain
Date            31-Oct-2006 (Rel. 2, Created)
Date            31-Oct-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15082894
RefAuthors      Oh, H. B., Park, J. S., Lee, W., Yoo, S. J., Yang, J. H., 
RefAuthors      Oh, S. Y.
RefTitle        Molecular analysis of X-linked chronic granulomatous 
RefTitle        disease in five unrelated korean patients.
RefLoc          J Korean Med Sci:218-222 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 1042
Feature           /change: +g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025: 42
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 10
Feature           /change: L -> ALHFCHSGLA GVERLPLCLV LPGLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Tuberculosis, lymphadenitis, hepatitis, enteric fever,n
Symptoms        meningitis, and Bechet's disease
Sex             XY
Ethnic origin   Mongoloid; Korea
//
ID              #V14X21(1); standard; MUTATION; NTERM
Accession       A0079
Systematic name g.1054delG, c.40delG, r.40delg, p.Val14fsX8
Original code   N.B. ref [1];patient 1 ref [2]
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9794433
RefAuthors      Dusi, S., Nadalini, K. A., Donini, M., Zentilin, L., 
RefAuthors      Wientjes, F. B., Roos, D., Giacca, M., Rossi, F.
RefTitle        Nicotinamide-adenine dinucleotide phosphate oxidase 
RefTitle        assembly and activation in EBV-transformed B 
RefTitle        lymphoblastoid cell lines of normal and chronic 
RefTitle        granulomatous disease patients.
RefLoc          J Immunol 161:4968-4974 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 1054
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 54
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 14
Feature           /change: V -> SFWFGWGX
Feature           /domain: NTERM
mRNA level      Present
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Italian)
Family history  Inherited, mother is carrier
//
ID              #L16X21(1); standard; MUTATION; NTERM
Accession       A0214
Systematic name g.3026delT, c.47delT, r.47delu, p.Leu16fsX6
Original code   IV-27 ref [2]
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8167720
RefAuthors      Roos, D., De Boer, M., De Klein, A., Bolscher, B. G., 
RefAuthors      Weening, R. S.
RefTitle        Chronic granulomatous disease: mutations in cytochrome 
RefTitle        b558.
RefLoc          Immunodeficiency 4:289-301 (1993)
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3026
Feature           /change: -t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 61
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 16
Feature           /change: L -> RFGWGX
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Chekish)
Family history  Inherited, mother is carrier
Comment         Brother prenatally normal
//
ID              @L16X35(1); standard; MUTATION; NTERM
Accession       A0619
Systematic name g.3024_3025insCATT, c.45_46insCATT, r.45_46inscauu,
Systematic name p.Leu16fsX20
Original code   SA
Description     A frame shift insertion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            07-Apr-2008 (Rel. 2, Created)
Date            07-Apr-2008 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Apr-2008) to CYBBbase.
RefLoc          Giordani L., Di Matteo G., Ventura A. and Martire B.; Dept.
RefLoc          Biomedicine of Evolutive Age - Univ. of Bari - p.zza G.
RefLoc          Cesare, 11 - 70124 Bari Italy; Tel +39 80 5593075; Fax +39
RefLoc          80 5592290; e-mail amaf1981@libero.it
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0025: 3025
Feature           /change: +catt
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 60
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 16
Feature           /change: L -> HSGLAGVERL PLCLVLPGLX
Feature           /domain: NTERM
mRNA level      Normal
Protein level   N.D.
Activity        N.D.
Diagnosis       Classical X-linked CGD
Symptoms        hepatic abscess
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        Description of pedigree:mother carrier
//
ID              #V17X21(1); standard; MUTATION; NTERM
Accession       A0215
Systematic name g.3028delG, c.49delG, r.49delg, p.Val17fsX5
Original code   IV-28 ref [1]
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3028
Feature           /change: -g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 63
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 17
Feature           /change: V -> FGWGX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
NBT-slide       0
Sex             XY
//
ID              W18C(1); standard; MUTATION; NTERM
Accession       A0083
Systematic name g.3033G>C, c.54G>C, r.54g>c, p.Trp18Cys
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
RefNumber       [2]
RefCrossRef     PUBMED; 7750432
RefAuthors      Glaser, J., Gahr, M., munnethal, A., Mann, O., von Eiff, 
RefAuthors      M., Pausch, J.
RefTitle        [chronic granulomatosis: a rare differential diagnosis in 
RefTitle        liver granulomas in adulthood]
RefLoc          Dtsch Med Wochenschr 120:646-648 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3033
Feature           /change: g -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 68
Feature           /codon: tgg -> tgc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 18
Feature           /change: W -> C
Feature           /domain: NTERM
Phenotype       X91 -
Heme level      10 %
Oxidase act.    0
NBT-slide       2,4% (40% weakly positive)
Symptoms        Mild CGD
Sex             XY
Ethnic origin   Caucasian (German)
//
ID              W18X(2); standard; MUTATION; NTERM
Accession       A0672
Systematic name g.3032G>A, c.53G>A, r.53g>a, p.Trp18X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3032
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 67
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 18
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @W18X34(1); standard; MUTATION; NTERM
Accession       A0349
Systematic name g.3031dupT, c.52dupT, r.52dupu, p.Trp18fsX17
Description     A frame shift duplication mutation in the exon 2 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 3032
Feature           /change: +t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 67
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 18
Feature           /change: W -> LAGVERLPLC LVLPGLX
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
//
ID              G20R(1); standard; MUTATION; NTERM
Accession       A0136
Systematic name g.3037G>C, c.58G>C, r.58g>c, p.Gly20Arg
Original code   VII-03? ref [2];IV-01 ref [3]
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8500277
RefAuthors      Curnutte, J. T.
RefTitle        Chronic granulomatous disease: the solving of a clinical 
RefTitle        riddle at the molecular level.
RefLoc          Clin Immunol Immunopathol 67:S2-15 (1993)
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; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3037
Feature           /change: g -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 72
Feature           /codon: ggg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 20
Feature           /change: G -> R
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              G20R(2); standard; MUTATION; NTERM
Accession       A0376
Systematic name g.3037G>C, c.58G>C, r.58g>c, p.Gly20Arg
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3037
Feature           /change: g -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 72
Feature           /codon: ggg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 20
Feature           /change: G -> R
Feature           /domain: NTERM
Phenotype       X9 0
Sex             XY
Family history  Inherited, mother is carrier
Comment         Aunt and maternal grandmother are normal
//
ID              G20R(3); standard; MUTATION; NTERM
Accession       A0647
Systematic name g.3037G>A, c.58G>A, r.58g>a, p.Gly20Arg
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3037
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 72
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 20
Feature           /change: G -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              G20R(4); standard; MUTATION; NTERM
Accession       A0673
Systematic name g.3037G>A, c.58G>A, r.58g>a, p.Gly20Arg
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3037
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 72
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 20
Feature           /change: G -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #N22X59(1); standard; MUTATION; NTERM
Accession       A0674
Systematic name g.3045_3049delinsA, c.66_70delinsA, r.66_70delinsa,
Systematic name p.Asn22fsX38
Description     A frame shift indel mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 3045..3049
Feature           /change: cgtct -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 80..84
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 22..24
Feature           /change: NVF -> KSSLSGITGF MIFHLSSFTQ ENFLGQHWHW PGPLQPAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @V23X35(1); standard; MUTATION; NTERM
Accession       A0298
Systematic name g.3043_3046dup, c.64_67dup, r.64_67dup, p.Val23fsX13
Original code   V-01 ref [1]
Description     A frame shift duplication mutation in the exon 2 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 3047
Feature           /change: +aacg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 82
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 23
Feature           /change: V -> ERLPLCLVLP GLX
Feature           /domain: NTERM
Sex             XY
Ethnic origin   Caucasian (Italian)
//
ID              #V27X59(1); standard; MUTATION; NTERM
Accession       A0327
Systematic name g.3059_3062delTCTG, c.80_83delTCTG, r.80_83delucug,
Systematic name p.Val27fsX33
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3059..3062
Feature           /change: -tctg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 94..97
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 27..28
Feature           /change: VW -> GITGFMIFHL SSFTQENFLG QHWHWPGPLQ PAX
Feature           /domain: NTERM
Sex             XY
//
ID              #V27X59(2); standard; MUTATION; NTERM
Accession       A0328
Systematic name g.3059_3062delTCTG, c.80_83delTCTG, r.80_83delucug,
Systematic name p.Val27fsX33
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3059..3062
Feature           /change: -tctg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 94..97
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 27..28
Feature           /change: VW -> GITGFMIFHL SSFTQENFLG QHWHWPGPLQ PAX
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              #V27X59(3); standard; MUTATION; NTERM
Accession       A0675
Systematic name g.3059_3062delTCTG, c.80_83delTCTG, r.80_83delucug,
Systematic name p.Val27fsX33
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3059..3062
Feature           /change: -tctg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 94..97
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 27..28
Feature           /change: VW -> GITGFMIFHL SSFTQENFLG QHWHWPGPLQ PAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #V27X59(4); standard; MUTATION; NTERM
Accession       A0676
Systematic name g.3059_3062delTCTG, c.80_83delTCTG, r.80_83delucug,
Systematic name p.Val27fsX33
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3059..3062
Feature           /change: -tctg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 94..97
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 27..28
Feature           /change: VW -> GITGFMIFHL SSFTQENFLG QHWHWPGPLQ PAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #V27X59(5); standard; MUTATION; NTERM
Accession       A0677
Systematic name g.3059_3062delTCTG, c.80_83delTCTG, r.80_83delucug,
Systematic name p.Val27fsX33
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3059..3062
Feature           /change: -tctg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 94..97
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 27..28
Feature           /change: VW -> GITGFMIFHL SSFTQENFLG QHWHWPGPLQ PAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              W28X(1); standard; MUTATION; NTERM
Accession       A0477
Systematic name g.3063G>A, c.84G>A, r.84g>a, p.Trp28X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat 18:163 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3063
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 98
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 28
Feature           /change: W -> X
Feature           /domain: NTERM
Sex             XY
//
ID              W28X(2); standard; MUTATION; NTERM
Accession       A0478
Systematic name g.3063G>A, c.84G>A, r.84g>a, p.Trp28X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat 18:163 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3063
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 98
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 28
Feature           /change: W -> X
Feature           /domain: NTERM
Sex             XY
//
ID              W28X(3); standard; MUTATION; NTERM
Accession       A0483
Systematic name g.3063G>A, c.84G>A, r.84g>a, p.Trp28X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3063
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 98
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 28
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       het
Sex             XX
//
ID              W28X(4); standard; MUTATION; NTERM
Accession       A0563
Systematic name g.3063G>A, c.84G>A, r.84g>a, p.Trp28X
Original code   P.1
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            01-Nov-2006 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 15538631
RefAuthors      Stasia, M. J., Bordigoni, P., Floret, D., Brion, J. P., 
RefAuthors      Bost-Bru, C., Michel, G., Gatel, P., Durant-Vital, D., 
RefAuthors      Voelckel, M. A., Li, X. J., Guillot, M., Maquet, E., 
RefAuthors      Martel, C., Morel, F.
RefTitle        Characterization of six novel mutations in the CYBB gene 
RefTitle        leading to different sub-types of X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet:72-82 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3063
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 98
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 28
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Liver granuloma, anal abscesses, gastric granuloma
Sex             XY
//
ID              W28X(5); standard; MUTATION; NTERM
Accession       A0575
Systematic name g.3062G>A, c.83G>A, r.83g>a, p.Trp28X
Original code   Patient J
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Nov-2006 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16123991
RefAuthors      Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A., 
RefAuthors      Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de 
RefAuthors      Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A., 
RefAuthors      Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto, 
RefAuthors      A.
RefTitle        Chronic granulomatous disease in latin american patients: 
RefTitle        clinical spectrum and molecular genetics.
RefLoc          Pediatr Blood Cancer:243-252 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3063
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 98
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 28
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Bullous impetigo, pneumonia, diarrhea, skin infection,
Symptoms        septic arthritis, otitis, cervical and perirectal
Symptoms        abscesses, meningoencephalitis caused by Aspergillus
Symptoms        fumigatus, inflammatory granuloma of the bowel
Sex             XY
Ethnic origin   Caucasoid/Negroid; Brazil
//
ID              W28X(6); standard; MUTATION; NTERM
Accession       A0678
Systematic name g.3062G>A, c.83G>A, r.83g>a, p.Trp28X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3062
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 97
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 28
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              W28X(7); standard; MUTATION; NTERM
Accession       A0679
Systematic name g.3063G>A, c.84G>A, r.84g>a, p.Trp28X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3063
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 98
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 28
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #Y29X60(1); standard; MUTATION; NTERM
Accession       A0680
Systematic name g.3064delT, c.85delT, r.85delu, p.Tyr29fsX32
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3064
Feature           /change: -t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 99
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 29
Feature           /change: Y -> ITGFMIFHLS SFTQENFLGQ HWHWPGPLQP AX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              Y30X(1); standard; MUTATION; NTERM
Accession       A0681
Systematic name g.3069C>A, c.90C>A, r.90c>a, p.Tyr30X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20228266
RefAuthors      Hill, H. R., Augustine, N. H., Pryor, R. J., Reed, G. H., 
RefAuthors      Bagnato, J. D., Tebo, A. E., Bender, J. M., Pasi, B. M., 
RefAuthors      Chinen, J., Hanson, I. C., de Boer, M., Roos, D., Wittwer, 
RefAuthors      C. T.
RefTitle        Rapid genetic analysis of x-linked chronic granulomatous 
RefTitle        disease by high-resolution melting.
RefLoc          J Mol Diagn:368-376 (2010)
RefNumber       [2]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3069
Feature           /change: c -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 104
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 30
Feature           /change: Y -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @R31X34(1); standard; MUTATION; NTERM
Accession       A0683
Systematic name g.3071_3072insC, c.92_93insC, r.92_93insc, p.Val32fsX3
Original code   BCH13 ref.[1]
Description     A frame shift insertion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat:163 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0025: 3072
Feature           /change: +c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 107
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 31
Feature           /change: R -> RGLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @V32X34(1); standard; MUTATION; NTERM
Accession       A1425
Systematic name g.3073delinsGG, c.94delinsGG, r.94delinsgg, p.Val32fsX3
Original code   AGS
Description     A frame shift indel mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            07-Oct-2013 (Rel. 2, Created)
Date            07-Oct-2013 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Oct-2013) to CYBBbase.
RefLoc          Antonio Ferreira; Unidad de Inmunologia.Planta sotano
RefLoc          Hospital Infantil.Hospital La Paz.Castellana
RefLoc          261.28046Madrid.Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc          aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 3073
Feature           /change: g -> gg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 108
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 32
Feature           /change: V -> GLX
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Age             3
Sex             male
Ethnic origin   Caucasoid; Spain
Family history  Inherited
//
ID              @V32X34(2); standard; MUTATION; NTERM
Accession       A1442
Systematic name g.3073dupG, c.94dupG, r.94dupg, p.Val32fsX3
Original code   UGS
Description     A frame shift duplication mutation in the exon 2 leading to
Description     a premature stop codon in the NTERM domain
Date            09-Dec-2015 (Rel. 2, Created)
Date            09-Dec-2015 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (09-Dec-2015) to CYBBbase.
RefLoc          Antonio Ferreira; Unidad de Inmunologia-Planta
RefLoc          sotano-Hospital Infantil-Hospital La Paz; Tel 917277238;
RefLoc          Fax 917277095; e-mail antonio.ferreira@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 3074
Feature           /change: +g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 109
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 32
Feature           /change: V -> GLX
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:Brother CGD, Mother carrier
//
ID              #V32X60(1); standard; MUTATION; NTERM
Accession       A0684
Systematic name g.3073delG, c.94delG, r.94delg, p.Val32fsX29
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3073
Feature           /change: -g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 108
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 32
Feature           /change: V -> FMIFHLSSFT QENFLGQHWH WPGPLQPAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              Y33X(1); standard; MUTATION; NTERM
Accession       A0024
Systematic name g.3078T>A, c.99T>A, r.99u>a, p.Tyr33X
Original code   VIII-02 ref [1]
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3078
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 113
Feature           /codon: tat -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 33
Feature           /change: Y -> X
Feature           /domain: NTERM
Phenotype       X91 0
Oxidase act.    0
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited, mother carrier
Comment         Sister is carrier
//
ID              #I35X60(1); standard; MUTATION; NTERM
Accession       A0685
Systematic name g.3084delT, c.105delT, r.105delu, p.Pro36fsX25
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3084
Feature           /change: -t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 119
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 35
Feature           /change: I -> IHLSSFTQEN FLGQHWHWPG PLQPAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              K38X(1); standard; MUTATION; NTERM
Accession       A0686
Systematic name g.3091A>T, c.112A>T, r.112a>u, p.Lys38X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3091
Feature           /change: a -> t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 126
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 38
Feature           /change: K -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              Y41D(1); standard; MUTATION; NTERM
Accession       A0495
Systematic name g.3100T>G, c.121T>G, r.121u>g, p.Tyr41Asp
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3100
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 135
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 41
Feature           /change: Y -> D
Feature           /domain: NTERM
//
ID              Y41D(2); standard; MUTATION; NTERM
Accession       A0544
Systematic name g.3100T>G, c.121T>G, r.121u>g, p.Tyr41Asp
Original code   Ref. [1] X91- patient, Ref. [2] Patient 1
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            19-Oct-2006 (Rel. 2, Created)
Date            09-Apr-2008 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12139950
RefAuthors      Jirapongsananuruk, O., Niemela, J. E., Malech, H. L., 
RefAuthors      Fleisher, T. A.
RefTitle        CYBB mutation analysis in X-linked chronic granulomatous 
RefTitle        disease.
RefLoc          Clin Immunol 104:73-76 (2002)
RefNumber       [2]
RefCrossRef     PUBMED; 12589359
RefAuthors      Jirapongsananuruk, O., Malech, H. L., Kuhns, D. B.,  
RefAuthors      Niemela, J. E., Brown, M. R., Anderson-Cohen, M., 
RefAuthors      Fleisher, T. A.
RefTitle        Diagnostic paradigm for evaluation of male patients with
RefTitle        chronic granulomatous disease, based on the
RefTitle        dihydrorhodamine 123 assay.
RefLoc          J Allergy Clin Immunol 111:374-379 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3100
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025: 135
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 41
Feature           /change: Y -> D
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #Y41X60(1); standard; MUTATION; NTERM
Accession       A0018
Systematic name g.3100delT, c.121delT, r.121delu, p.Tyr41fsX20
Original code   IV-29 ref [2]
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8167720
RefAuthors      Roos, D., De Boer, M., De Klein, A., Bolscher, B. G., 
RefAuthors      Weening, R. S.
RefTitle        Chronic granulomatous disease: mutations in cytochrome 
RefTitle        b558.
RefLoc          Immunodeficiency 4:289-301 (1993)
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3100
Feature           /change: -t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 135
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 41
Feature           /change: Y -> TQENFLGQHW HWPGPLQPAX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited, mother is carrier
//
ID              #Y41X60(2); standard; MUTATION; NTERM
Accession       A0687
Systematic name g.3100delT, c.121delT, r.121delu, p.Tyr41fsX20
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 3100
Feature           /change: -t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 135
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 41
Feature           /change: Y -> TQENFLGQHW HWPGPLQPAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @Y41X102(1); standard; MUTATION; NTERM
Accession       A0350
Systematic name g.3100_3101insT, c.135_136insT, p.Y41fsX102
Original code   91-2 ref [1]
Description     Insertion in the exon 2 leading to a premature stop codon 
Description     in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            26-Jul-2002 (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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0025: 3101
Feature           /change: +t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025: 136
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 41
Feature           /change:    Y 
Feature           /change: -> LHKKTSWVST GTGQGPCSLP EFQLHADSLA SLSKSAVLPQ 
Feature           /change:    GFQCVLLNKS SKTTGQESHL SX
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              T42R(1); standard; MUTATION; NTERM
Accession       A0688
Systematic name g.3104C>G, c.125C>G, r.125c>g, p.Thr42Arg
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3104
Feature           /change: c -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 139
Feature           /codon: aca -> aga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 42
Feature           /change: T -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #T42X60(1); standard; MUTATION; NTERM
Accession       A0689
Systematic name g.3105_3109delinsTTTC, c.126_130delinsTTTC,
Systematic name r.126_130delinsuuuc, p.Arg43fsX18
Description     A frame shift indel mutation in the exon 2 leading to a
Description     premature stop codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 3105..3109
Feature           /change: aagaa -> tttc
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 140..144
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 42..44
Feature           /change: TRK -> TFNFLGQHWH WPGPLQPAX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R43X(1); standard; MUTATION; NTERM
Accession       A0261
Systematic name g.3106A>T, c.127A>T, r.127a>u, p.Arg43X
Original code   VIII-03 ref [1]
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3106
Feature           /change: a -> t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 141
Feature           /codon: aga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 43
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Italian)
//
ID              R43X(2); standard; MUTATION; NTERM
Accession       A0690
Systematic name g.3106A>T, c.127A>T, r.127a>u, p.Arg43X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3106
Feature           /change: a -> t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 141
Feature           /codon: aga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 43
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R43X(3); standard; MUTATION; NTERM
Accession       A0691
Systematic name g.3106A>T, c.127A>T, r.127a>u, p.Arg43X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3106
Feature           /change: a -> t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 141
Feature           /codon: aga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 43
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              L45R(1); standard; MUTATION; NTERM
Accession       A0692
Systematic name g.3113T>G, c.134T>G, r.134u>g, p.Leu45Arg
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the NTERM domain
Date            27-Aug-2010 (Rel. 2, Created)
Date            27-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 3113
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 148
Feature           /codon: ctt -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 45
Feature           /change: L -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S48X(1a); standard; MUTATION; NTERM
Accession       A0712
Systematic name g.4428C>G, c.143C>G, r.143c>g, p.Ser48X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4428
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 157
Feature           /codon: tca -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 48
Feature           /change: S -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0713
//
ID              S48X(1b); standard; MUTATION; NTERM
Accession       A0713
Systematic name g.4428C>G, c.143C>G, r.143c>g, p.Ser48X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4428
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 157
Feature           /codon: tca -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 48
Feature           /change: S -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0712
//
ID              #S48-1(1a); standard; MUTATION; NTERM
Accession       A0599
Systematic name g.4427_4444delinsCCTGCCTGAATTTCT,
Systematic name c.142_159delinsCCTGCCTGAATTTCT,
Systematic name r.142_159delinsccugccugaauuucu,
Systematic name p.Ser48_Ala53delinsProAlaXIleSer
Original code   MSM
Description     An indel mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            05-Sep-2007 (Rel. 2, Created)
Date            05-Sep-2007 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (05-Sep-2007) to CYBBbase.
RefLoc          A. Ferreira, M.C. Garcia Rodriguez, G. Fontan; Servicio de
RefLoc          Inmunologia. Planta sotano Hospital Infantil. Hospital La
RefLoc          Paz.Castellana 261.28046 Madrid.Spain; Tel 917277095; Fax
RefLoc          917277238; e-mail aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 4427..4444
Feature           /change: tcagcactgg cactggcc -> cctgcctgaa tttct
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025: 156..173
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: complex; premature termination
Feature           /loc: GenBank: NP_000388: 48..53
Feature           /change: SALALA -> PAXIS
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Cervical adenitis, brain and pulmonary aspergillosis,
Symptoms        granulomatous colitis
Age             0,5
Sex             XY
Ethnic origin   Spain
Family history  Inherited
Relative        Description of pedigree: Mother and two sisters carriers. 
Relative        Two nephews have Classical X-linked CGD.
Relative        CYBBbase; A0600 nephew
Relative        CYBBbase; A0601 nephew
//
ID              #S48-1(1b); standard; MUTATION; NTERM
Accession       A0600
Systematic name g.4427_4444delinsCCTGCCTGAATTTCT,
Systematic name c.142_159delinsCCTGCCTGAATTTCT,
Systematic name r.142_159delinsccugccugaauuucu,
Systematic name p.Ser48_Ala53delinsProAlaXIleSer
Original code   NBS
Description     An indel mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            05-Sep-2007 (Rel. 2, Created)
Date            05-Sep-2007 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (05-Sep-2007) to CYBBbase.
RefLoc          A. Ferreira, M.C. Garcia Rodriguez, G. Fontan; Servicio de
RefLoc          Inmunologia. Planta sotano Hospital Infantil. Hospital La
RefLoc          Paz.Castellana 261.28046 Madrid.Spain; Tel 917277095; Fax
RefLoc          917277238; e-mail aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 4427..4444
Feature           /change: tcagcactgg cactggcc -> cctgcctgaa tttct
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025: 156..173
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: complex; premature termination
Feature           /loc: GenBank: NP_000388: 48..53
Feature           /change: SALALA -> PAXIS
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Pulmonary aspergillosis, granulomatous colitis
Age             0,04
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree: Grandmother, mother and aunt
Relative        carriers. Uncle and first cousin have Classical X-linked
Relative        CGD.
Relative        CYBBbase; A0599 uncle
Relative        CYBBbase; A0601 cousin
//
ID              #S48-1(1c); standard; MUTATION; NTERM
Accession       A0601
Systematic name g.4427_4444delinsCCTGCCTGAATTTCT,
Systematic name c.142_159delinsCCTGCCTGAATTTCT,
Systematic name r.142_159delinsccugccugaauuucu,
Systematic name p.Ser48_Ala53delinsProAlaXIleSer
Original code   LPS
Description     An indel mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            05-Sep-2007 (Rel. 2, Created)
Date            05-Sep-2007 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (05-Sep-2007) to CYBBbase.
RefLoc          A. Ferreira, M.C. Garcia Rodriguez, G. Fontan; Servicio de
RefLoc          Inmunologia. Planta sotano Hospital Infantil. Hospital La
RefLoc          Paz.Castellana 261.28046 Madrid.Spain; Tel 917277095; Fax
RefLoc          917277238; e-mail aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 4427..4444
Feature           /change: tcagcactgg cactggcc -> cctgcctgaa tttct
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025: 156..173
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: complex; premature termination
Feature           /loc: GenBank: NP_000388: 48..53
Feature           /change: SALALA -> PAXIS
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Supurative otitis media, gingivostomatitis, salmonella
Symptoms        sepsis
Age             0,8
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree: Grandmother, mother and aunt
Relative        carriers. Uncle and first cousin have Classical X-linked
Relative        CGD. Mother has Discoid Lupus Erythematosus
Relative        CYBBbase; A0599 uncle
Relative        CYBBbase; A0600 cousin
//
ID              #S48X50(1a); standard; MUTATION; NTERM
Accession       A0709
Systematic name g.4427_4444delinsTTAATTT, c.142_159delinsTTAATTT,
Systematic name r.142_159delinsuuaauuu, p.Ser48fsX3
Description     A frame shift indel mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 4427..4444
Feature           /change: tcagcactgg cactggcc -> ttaattt
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 156..173
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 48..53
Feature           /change: SALALA -> LIX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0710
Relative        CYBBbase; A0711
//
ID              #S48X50(1b); standard; MUTATION; NTERM
Accession       A0710
Systematic name g.4427_4444delinsTTAATTT, c.142_159delinsTTAATTT,
Systematic name r.142_159delinsuuaauuu, p.Ser48fsX3
Description     A frame shift indel mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 4427..4444
Feature           /change: tcagcactgg cactggcc -> ttaattt
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 156..173
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 48..53
Feature           /change: SALALA -> LIX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0709
Relative        CYBBbase; A0711
//
ID              #S48X50(1c); standard; MUTATION; NTERM
Accession       A0711
Systematic name g.4427_4444delinsTTAATTT, c.142_159delinsTTAATTT,
Systematic name r.142_159delinsuuaauuu, p.Ser48fsX3
Description     A frame shift indel mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 4427..4444
Feature           /change: tcagcactgg cactggcc -> ttaattt
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 156..173
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 48..53
Feature           /change: SALALA -> LIX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0709
Relative        CYBBbase; A0710
//
ID              A53D(1); standard; MUTATION; NTERM
Accession       A0050
Systematic name g.4443C>A, c.158C>A, r.158c>a, p.Ala53Asp
Original code   VII-04 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4443
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 172
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 53
Feature           /change: A -> D
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Decreased
Heme level      Decreased (29%)
Oxidase act.    0
NBT-slide       0
Symptoms        Classical CGD starting at 6 y
Sex             XY
Ethnic origin   Caucasian (Spanish)
Family history  Inherited, mother is carrier
//
ID              @A53X102(1); standard; MUTATION; NTERM
Accession       A0160
Systematic name g.4444dupC, c.159dupC, r.159dupc, p.Arg54fsX49
Original code   II-01 ref [1]
Description     A frame shift duplication mutation in the exon 3 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 4445
Feature           /change: +c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 174
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 54
Feature           /change: R -> 
Feature           /change: QGPCSLPEFQ LHADSLASLS KSAVLPQGFQ CVLLNKSSKT
Feature           /change: TGQESHLSX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              R54G(1); standard; MUTATION; NTERM
Accession       A0243
Systematic name g.4445A>G, c.160A>G, r.160a>g, p.Arg54Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4445
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 174
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 54
Feature           /change: R -> G
Feature           /domain: NTERM
Phenotype       X91 +
Protein level   Normal
Oxidase act.    0
NBT-slide       0
Sex             XY
//
ID              R54M(1); standard; MUTATION; NTERM
Accession       A0455
Systematic name g.4446G>T, c.161G>T, r.161g>u, p.Arg54Met
Original code   pt 22 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9667376
RefAuthors      Ariga, T., Furuta, H., Cho, K., Sakiyama, Y.
RefTitle        Genetic analysis of 13 families with X-linked chronic 
RefTitle        granulomatous disease reveals a low proportion of sporadic 
RefTitle        patients and a high proportion of sporadic carriers.
RefLoc          Pediatr Res 44:85-92 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4446
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 175
Feature           /codon: agg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 54
Feature           /change: R -> M
Feature           /domain: NTERM
Phenotype       X91 +
//
ID              R54M(2); standard; MUTATION; NTERM
Accession       A0715
Systematic name g.4446G>T, c.161G>T, r.161g>u, p.Arg54Met
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4446
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 175
Feature           /codon: agg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 54
Feature           /change: R -> M
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R54S(1); standard; MUTATION; NTERM
Accession       A0133
Systematic name g.4447G>C, c.162G>C, r.162g>c, p.Arg54Ser
Original code   T.J. ref [1];VII-05 ref [2];IV-02 ref [3]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7713925
RefAuthors      Cross, A. R., Heyworth, P. G., Rae, J., Curnutte, J. T.
RefTitle        A variant X-linked chronic granulomatous disease 
RefTitle        patient (X91+) with partially functional cytochrome b.
RefLoc          J Biol Chem 270:8194-8200 (1995)
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; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4447
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 176
Feature           /codon: agg -> agc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 54
Feature           /change: R -> S
Feature           /domain: NTERM
Phenotype       X91 +
Protein level   Normal
Oxidase act.    0
Symptoms        Mild CGD
Sex             XY
//
ID              #R54-2(1); standard; MUTATION; NTERM
Accession       A0322
Systematic name g.4445_4450delAGGGCC, c.160_165delAGGGCC,
Systematic name r.160_165delagggcc, p.Arg54_Pro56del
Description     An inframe deletion in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat 18:163 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4445..4450
Feature           /change: -agggcc
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 174..179
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: GenBank: NP_000388: 54..55
Feature           /change: -RA
Feature           /domain: NTERM
Sex             XY
//
ID              #R54-2(2); standard; MUTATION; NTERM
Accession       A0714
Systematic name g.4445_4450delAGGGCC, c.160_165delAGGGCC,
Systematic name r.160_165delagggcc, p.Arg54_Pro56del
Description     An inframe deletion in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4445..4450
Feature           /change: -agggcc
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 174..179
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: GenBank: NP_000388: 54..55
Feature           /change: -RA
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A55D(1); standard; MUTATION; NTERM
Accession       A0353
Systematic name g.4449C>A, c.164C>A, r.164c>a, p.Ala55Asp
Original code   24 ref [1];91-4 ref [2]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9667376
RefAuthors      Ariga, T., Furuta, H., Cho, K., Sakiyama, Y.
RefTitle        Genetic analysis of 13 families with X-linked chronic 
RefTitle        granulomatous disease reveals a low proportion of sporadic 
RefTitle        patients and a high proportion of sporadic carriers.
RefLoc          Pediatr Res 44:85-92 (1998)
RefNumber       [2]
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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4449
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 178
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 55
Feature           /change: A -> D
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              A55D(2); standard; MUTATION; NTERM
Accession       A0716
Systematic name g.4449C>A, c.164C>A, r.164c>a, p.Ala55Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4449
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 178
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 55
Feature           /change: A -> D
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A55D(3); standard; MUTATION; NTERM
Accession       A0717
Systematic name g.4449C>A, c.164C>A, r.164c>a, p.Ala55Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4449
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 178
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 55
Feature           /change: A -> D
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              P56L(1a); standard; MUTATION; NTERM
Accession       A0244
Systematic name g.4452C>T, c.167C>T, r.167c>u, p.Pro56Leu
Original code   HKR ref [1];VII-06 ref [2]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8070813
RefAuthors      Roos, D.
RefTitle        The genetic basis of chronic granulomatous disease.
RefLoc          Immunol Rev 138:121-157 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4452
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 181
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 56
Feature           /change: P -> L
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 -
Protein level   Decreased
Heme level      60 %
Oxidase act.    Strongly decreased
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (Danish)
Relative        CYBBbase; A0245 brother
//
ID              P56L(1b); standard; MUTATION; NTERM
Accession       A0245
Systematic name g.4452C>T, c.167C>T, r.167c>u, p.Pro56Leu
Original code   JKR ref [1];VII-06 ref [2]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8070813
RefAuthors      Roos, D.
RefTitle        The genetic basis of chronic granulomatous disease.
RefLoc          Immunol Rev 138:121-157 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4452
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 181
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 56
Feature           /change: P -> L
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 -
Protein level   Decreased
Oxidase act.    Strongly decreased
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (Danish)
Relative        CYBBbase; A0244 brother
//
ID              P56L(2); standard; MUTATION; NTERM
Accession       A0304
Systematic name g.4452C>T, c.167C>T, r.167c>u, p.Pro56Leu
Original code   VII-07 ref [2]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            10-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7918677
RefAuthors      Thrasher, A. J., Keep, N. H., Wientjes, F., Segal, A. W.
RefTitle        Chronic granulomatous disease.
RefLoc          Biochim Biophys Acta 1227:1-24 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4452
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 181
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 56
Feature           /change: P -> L
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Decreased
Oxidase act.    Decreased
Sex             ??
//
ID              A57E(1); standard; MUTATION; NTERM
Accession       A0069
Systematic name g.4455C>A, c.170C>A, r.170c>a, p.Ala57Glu
Original code   "VII-08 ref [2];91-5" ref [4]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8101486
RefAuthors      Ariga, T., Sakiyama, Y., Tomizawa, K., Imajoh-Ohmi, S., 
RefAuthors      Kanegasaki, S., Matsumoto, S.
RefTitle        A newly recognized point mutation in the cytochrome b558 
RefTitle        heavy chain gene replacing alanine57 by glutamic acid, in 
RefTitle        a patient with cytochrome b positive X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Eur J Pediatr 152:469-472 (1993)
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; 9667376
RefAuthors      Ariga, T., Furuta, H., Cho, K., Sakiyama, Y.
RefTitle        Genetic analysis of 13 families with X-linked chronic 
RefTitle        granulomatous disease reveals a low proportion of sporadic 
RefTitle        patients and a high proportion of sporadic carriers.
RefLoc          Pediatr Res 44:85-92 (1998)
RefNumber       [4]
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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4455
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 184
Feature           /codon: gca -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 57
Feature           /change: A -> E
Feature           /domain: NTERM
Phenotype       X91 +
Protein level   Normal
Heme level      Normal
Oxidase act.    0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Japanese
Family history  Inherited, mother is carrier
//
ID              A57E(2); standard; MUTATION; NTERM
Accession       A0718
Systematic name g.4455C>A, c.170C>A, r.170c>a, p.Ala57Glu
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4455
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 184
Feature           /codon: gca -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 57
Feature           /change: A -> E
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              C59F(1); standard; MUTATION; NTERM
Accession       A0362
Systematic name g.4461G>T, c.176G>T, r.176g>u, p.Cys59Phe
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4461
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 190
Feature           /codon: tgc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> F
Feature           /domain: NTERM
Phenotype       X91 -
Heme level      Normal
//
ID              C59R(1a); standard; MUTATION; NTERM
Accession       A0175
Systematic name g.4460T>C, c.175T>C, r.175u>c, p.Cys59Arg
Original code   IV-03 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4460
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 189
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> R
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   Decreased
Heme level      Normal
Oxidase act.    Decreased
Symptoms        Classical CGD
Sex             XY
Relative        CYBBbase; A0176 brother
//
ID              C59R(1b); standard; MUTATION; NTERM
Accession       A0176
Systematic name g.4460T>C, c.175T>C, r.175u>c, p.Cys59Arg
Original code   IV-03 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4460
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 189
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> R
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   Decreased
Heme level      Normal
Oxidase act.    Decreased
Symptoms        Classical CGD
Sex             XY
Relative        CYBBbase; A0175 brother
//
ID              C59R(2); standard; MUTATION; NTERM
Accession       A0719
Systematic name g.4460T>C, c.175T>C, r.175u>c, p.Cys59Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4460
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 189
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              C59R(3); standard; MUTATION; NTERM
Accession       A1421
Systematic name g.4460T>C, c.175T>C, r.175u>c, p.Cys59Arg
Original code   PSC
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            20-Jun-2012 (Rel. 2, Created)
Date            20-Jun-2012 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (20-Jun-2012) to CYBBbase.
RefLoc          Oscar de la Calle-Martin; Immunology, Hospital Sant Pau,
RefLoc          Universitat Autonoma Barcelona, Spain; Tel +34 935537546;
RefLoc          Fax +34 935537598; e-mail odlcalle@santpau.cat
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4460
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 189
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> R
Feature           /domain: NTERM
mRNA level      Normal
Protein level   Normal
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        colitis, anemia, osteomyelitis, endocarditis
Age             1
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:His elder brother had died due to a
Relative        sepsis when he was 15-months old before the propositus was
Relative        born. DNA analysis in a frozen biopsy revealed the same
Relative        CYBB mutation.
//
ID              C59W(1); standard; MUTATION; NTERM
Accession       A0246
Systematic name g.4462C>G, c.177C>G, r.177c>g, p.Cys59Trp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4462
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 191
Feature           /codon: tgc -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> W
Feature           /domain: NTERM
Phenotype       X91 0
Heme level      Normal
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (French)
Family history  Inherited, mother is carrier
Comment         Patient deceased
//
ID              C59W(2); standard; MUTATION; NTERM
Accession       A0541
Systematic name g.4462C>G, c.177C>G, r.177c>g, p.Cys59Trp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat 18:163 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4462
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 191
Feature           /codon: tgc -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> W
Feature           /domain: NTERM
Sex             XY
//
ID              C59Y(1); standard; MUTATION; NTERM
Accession       A0363
Systematic name g.4461G>A, c.176G>A, r.176g>a, p.Cys59Tyr
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4461
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 190
Feature           /codon: tgc -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> Y
Feature           /domain: NTERM
Phenotype       het
Sex             XX
//
ID              C59X(1); standard; MUTATION; NTERM
Accession       A0720
Systematic name g.4462C>A, c.177C>A, r.177c>a, p.Cys59X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4462
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 191
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 59
Feature           /change: C -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #F62X66(1); standard; MUTATION; NTERM
Accession       A0614
Systematic name g.4470delT, c.185delT, r.185delu, p.Phe62fsX5
Original code   BiMi
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            05-Mar-2008 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (05-Mar-2008) to CYBBbase.
RefLoc          Giordani L., Di Matteo G., Ventura A. and Martire B.; Dept.
RefLoc          Biomedicine of Evolutive Age - Univ. of Bari - p.zza
RefLoc          G.Cesare, 11 - 70124 Bari Italy; Tel +39 80 5593075; Fax
RefLoc          +39 80 5592290; e-mail l.giordani@endobiomol.uniba.it
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4470
Feature           /change: -t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 199
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 62
Feature           /change: F -> STACX
Feature           /domain: NTERM
mRNA level      N.D.
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Sespis, pulmonary and bone aspergillosis, liver abscess
Age             5
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        Description of pedigree:mother and 2 sisters carriers
//
ID              N63K(1a); standard; MUTATION; NTERM
Accession       A0413
Systematic name g.4474C>G, c.189C>G, r.189c>g, p.Asn63Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4474
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 203
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 63
Feature           /change: N -> K
Feature           /domain: NTERM
Sex             XY
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0414 cousin
//
ID              N63K(1b); standard; MUTATION; NTERM
Accession       A0414
Systematic name g.4474C>G, c.189C>G, r.189c>g, p.Asn63Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4474
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 203
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 63
Feature           /change: N -> K
Feature           /domain: NTERM
Sex             XY
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0413 cousin
//
ID              N63K(2); standard; MUTATION; NTERM
Accession       A0721
Systematic name g.4474C>G, c.189C>G, r.189c>g, p.Asn63Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4474
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 203
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 63
Feature           /change: N -> K
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              C64R(1); standard; MUTATION; NTERM
Accession       A0247
Systematic name g.4475T>C, c.190T>C, r.190u>c, p.Cys64Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4475
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 204
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 64
Feature           /change: C -> R
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Heme level      Normal
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (French)
//
ID              C64R(2); standard; MUTATION; NTERM
Accession       A0722
Systematic name g.4475T>C, c.190T>C, r.190u>c, p.Cys64Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4475
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 204
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 64
Feature           /change: C -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              C64X(1); standard; MUTATION; NTERM
Accession       A0364
Systematic name g.4477C>A, c.192C>A, r.192c>a, p.Cys64X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4477
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 206
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 64
Feature           /change: C -> X
Feature           /domain: NTERM
Heme level      Normal
Sex             XY
//
ID              M65R(1a); standard; MUTATION; NTERM
Accession       A0723
Systematic name g.4479T>G, c.194T>G, r.194u>g, p.Met65Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4479
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 208
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 65
Feature           /change: M -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0724
//
ID              M65R(1b); standard; MUTATION; NTERM
Accession       A0724
Systematic name g.4479T>G, c.194T>G, r.194u>g, p.Met65Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4479
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 208
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 65
Feature           /change: M -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0723
//
ID              L66P(1); standard; MUTATION; NTERM
Accession       A0725
Systematic name g.4482T>C, c.197T>C, r.197u>c, p.Leu66Pro
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4482
Feature           /change: t -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 211
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 66
Feature           /change: L -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @L66X102(1a); standard; MUTATION; NTERM
Accession       A0196
Systematic name g.4480dupG, c.195dupG, r.195dupg, p.Leu66fsX37
Original code   V-02 ? ref [1];II-02 ref [2]
Description     A frame shift duplication mutation in the exon 3 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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       [2]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 4481
Feature           /change: +g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 210
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 66
Feature           /change: L -> ADSLASLSKS AVLPQGFQCV LLNKSSKTTG QESHLSX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Mild CGD
Sex             XY
Relative        CYBBbase; A0197 brother
//
ID              @L66X102(1b); standard; MUTATION; NTERM
Accession       A0197
Systematic name g.4480dupG, c.195dupG, r.195dupg, p.Leu66fsX37
Original code   V-02 ? ref [1];II-02 ref [2]
Description     A frame shift duplication mutation in the exon 3 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
FRefNumber       [1]
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       [2]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 4481
Feature           /change: +g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 210
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 66
Feature           /change: L -> ADSLASLSKS AVLPQGFQCV LLNKSSKTTG QESHLSX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
Relative        CYBBbase; A0196 brother
//
ID              @V71X102(1); standard; MUTATION; NTERM
Accession       A0726
Systematic name g.4495dupA, c.210dupA, r.210dupa, p.Val71fsX32
Description     A frame shift duplication mutation in the exon 3 leading to
Description     a premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 4496
Feature           /change: +a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 225
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 71
Feature           /change: V -> SLSKSAVLPQ GFQCVLLNKS SKTTGQESHL SX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(1); standard; MUTATION; NTERM
Accession       A0008
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Original code   BC ref [1];VIII-04 ref [2]
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 1710153
RefAuthors      Bolscher, B. G., de Boer, M., de Klein, A., Weening, R. 
RefAuthors      S., Roos, D.
RefTitle        Point mutations in the beta-subunit of cytochrome b558 
RefTitle        leading to X-linked chronic granulomatous disease.
RefLoc          Blood 77:2482-2487 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 0
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited, mother carrier
Comment         Sister prenatally normal
//
ID              R73X(2); standard; MUTATION; NTERM
Accession       A0188
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Original code   III-02 ref [1]
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              R73X(3); standard; MUTATION; NTERM
Accession       A0262
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Original code   VIII-05 ref [1]
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
Ethnic origin   Caucasian (Polish)
Comment         Father, mother, sister normal
//
ID              R73X(4); standard; MUTATION; NTERM
Accession       A0263
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (Australian)
Family history  Inherited, mother carrier
Comment         Maternal aunts, grand- and great-grandmother are carriers, uncle and cousin are normal 
//
ID              R73X(5); standard; MUTATION; NTERM
Accession       A0456
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Original code   III-03 ref [1]
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R73X(6); standard; MUTATION; NTERM
Accession       A0457
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother carrier
//
ID              R73X(7); standard; MUTATION; NTERM
Accession       A0458
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R73X(8); standard; MUTATION; NTERM
Accession       A0459
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat 18:163 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
//
ID              R73X(9); standard; MUTATION; NTERM
Accession       A0576
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Original code   Patient I
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Nov-2006 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 16123991
RefAuthors      Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A., 
RefAuthors      Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de 
RefAuthors      Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A., 
RefAuthors      Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto, 
RefAuthors      A.
RefTitle        Chronic granulomatous disease in latin american patients: 
RefTitle        clinical spectrum and molecular genetics.
RefLoc          Pediatr Blood Cancer:243-252 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Recurrent infections starting with pneumonia, followed by
Symptoms        bone infection and abscesses in the axilla and liver,
Symptoms        cutaneous and mucosal infections caused by Candida species
Sex             XY
Ethnic origin   Caucasoid; Brazil
//
ID              R73X(10); standard; MUTATION; NTERM
Accession       A0727
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(11); standard; MUTATION; NTERM
Accession       A0728
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(12); standard; MUTATION; NTERM
Accession       A0729
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(13); standard; MUTATION; NTERM
Accession       A0730
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(14); standard; MUTATION; NTERM
Accession       A0731
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(15); standard; MUTATION; NTERM
Accession       A0732
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(16); standard; MUTATION; NTERM
Accession       A0733
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(17); standard; MUTATION; NTERM
Accession       A0734
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(18); standard; MUTATION; NTERM
Accession       A0735
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(19); standard; MUTATION; NTERM
Accession       A0736
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(20); standard; MUTATION; NTERM
Accession       A0737
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(21); standard; MUTATION; NTERM
Accession       A0738
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(22); standard; MUTATION; NTERM
Accession       A0739
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(23); standard; MUTATION; NTERM
Accession       A0740
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(24); standard; MUTATION; NTERM
Accession       A0741
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R73X(25); standard; MUTATION; NTERM
Accession       A0742
Systematic name g.4502C>T, c.217C>T, r.217c>u, p.Arg73X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4502
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 231
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 73
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #L76X107(1a); standard; MUTATION; NTERM
Accession       A0743
Systematic name g.4511delC, c.226delC, r.226delc, p.Leu76fsX32
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4511
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 240
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 76
Feature           /change: L -> CPSSGVPVRA AQQEFEDNWT GISPFIKWWH GX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0744
//
ID              #L76X107(1b); standard; MUTATION; NTERM
Accession       A0744
Systematic name g.4511delC, c.226delC, r.226delc, p.Leu76fsX32
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4511
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 240
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 76
Feature           /change: L -> CPSSGVPVRA AQQEFEDNWT GISPFIKWWH GX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0743
//
ID              #G81X107(1); standard; MUTATION; NTERM
Accession       A0011
Systematic name g.4527delG, c.242delG, r.242delg, p.Gly81fsX27
Original code   IV-31 ref [1]
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4527
Feature           /change: -g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 256
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 81
Feature           /change: G -> VPVRAAQQEF EDNWTGISPF IKWWHGX
Feature           /domain: NTERM
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Family history  Inherited, mother is carrier
Comment         Two brothers died young, one of tubercolosis-like disease, one of skin infection and lymphadenopathy
//
ID              #G81X107(2); standard; MUTATION; NTERM
Accession       A0745
Systematic name g.4527delG, c.242delG, r.242delg, p.Gly81fsX27
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4527
Feature           /change: -g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 256
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 81
Feature           /change: G -> VPVRAAQQEF EDNWTGISPF IKWWHGX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @G81X102(1); standard; MUTATION; NTERM
Accession       A0746
Systematic name g.4527dupG, c.242dupG, r.242dupg, p.Ser82fsX21
Description     A frame shift duplication mutation in the exon 3 leading to
Description     a premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 4528
Feature           /change: +g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 257
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 81
Feature           /change: G -> GFQCVLLNKS SKTTGQESHL SX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(1); standard; MUTATION; NTERM
Accession       A0022
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion; loss of exon sequence
Feature           /loc: IDRefSeq: C0025: 156..266
Feature           /change: -tcagcactgg cactggccag ggcccctgca gcctgcctga
Feature           /change:  atttcaactg catgctgatt ctcttgccag tctgtcgaaa
Feature           /change:  tctgctgtcc ttcctcaggg gttccagtgc g
Feature           /note: skipping of exon 3
Feature           /inexloc: +5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /loc: GenBank: NP_000388: 48..84
Feature           /name: deletion; inframe
Feature           /change: -SALALARAPA ACLNFNCMLI LLPVCRNLLS FLRGSSA
Feature           /domain: NTERM
Oxidase act.    0
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited, mother is carrier
//
ID              A84A(2); standard; MUTATION; NTERM
Accession       A0063
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   pat. 7 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8916969
RefAuthors      Hui, Y. F., Chan, S. Y., Lau, Y. L.
RefTitle        Identification of mutations in seven chinese patients with 
RefTitle        X-linked chronic granulomatous disease.
RefLoc          Blood 88:4021-4028 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion; loss of exon sequence
Feature           /loc: IDRefSeq: C0025: 156..266
Feature           /change: -tcagcactgg cactggccag ggcccctgca gcctgcctga
Feature           /change:  atttcaactg catgctgatt ctcttgccag tctgtcgaaa
Feature           /change:  tctgctgtcc ttcctcaggg gttccagtgc g
Feature           /note: skipping of exon 3
Feature           /inexloc: +5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /loc: GenBank: NP_000388: 48..84
Feature           /name: deletion; inframe
Feature           /change: -SALALARAPA ACLNFNCMLI LLPVCRNLLS FLRGSSA
Feature           /domain: NTERM
mRNA level      Smaller mRNA
Phenotype       X91 0
Protein level   0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Chinese
Family history  Inherited, mother is carrier
//
ID              A84A(3); standard; MUTATION; NTERM
Accession       A0100
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   V-08 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Decreased
Oxidase act.    Decreased
Symptoms        Mild CGD
Sex             XY
//
ID              A84A(4); standard; MUTATION; NTERM
Accession       A0127
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   V-11 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Decreased
Oxidase act.    Decreased
Symptoms        Mild CGD
Sex             XY
//
ID              A84A(5); standard; MUTATION; NTERM
Accession       A0193
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   V-10 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Decreased
Oxidase act.    Decreased
Symptoms        Mild CGD
Sex             XY
//
ID              A84A(6); standard; MUTATION; NTERM
Accession       A0226
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   VI-05 ref [1];P.C. ref [2]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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       [2]
RefCrossRef     PUBMED; 8615831
RefAuthors      Porter, C. D., Kuribayashi, F., Parkar, M. H., Roos, D., 
RefAuthors      Kinnon, C.
RefTitle        Detection of gp91-phox precursor protein in B-cell lines 
RefTitle        from patients with X-linked chronic granulomatous disease 
RefTitle        as an indicator for mutations impairing cytochrome b558 
RefTitle        biosynthesis.
RefLoc          Biochem J 315 ( Pt 2):571-575 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Sex             XY
Ethnic origin   Caucasian (British)
//
ID              A84A(7); standard; MUTATION; NTERM
Accession       A0227
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   VI-06 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Family history  Inherited, mother is carrier
Comment         Maternal grandmother normal.
//
ID              A84A(8a); standard; MUTATION; NTERM
Accession       A0228
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   VI-07 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0229 brother
Comment         Father normal
//
ID              A84A(8b); standard; MUTATION; NTERM
Accession       A0229
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   VI-07 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0228 brother
Comment         Father normal
//
ID              A84A(9); standard; MUTATION; NTERM
Accession       A0230
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   VI-08 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Italian)
Family history  Inherited, mother is carrier
Comment         Sister is carrier
//
ID              A84A(10); standard; MUTATION; NTERM
Accession       A0231
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
NBT-slide       0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              A84A(11); standard; MUTATION; NTERM
Accession       A0354
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   V-09 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
mRNA level      + normal mRNA
Phenotype       X91 -
//
ID              A84A(12); standard; MUTATION; NTERM
Accession       A0355
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   91-6 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
mRNA level      + normal mRNA
Phenotype       X91 0
//
ID              A84A(13); standard; MUTATION; NTERM
Accession       A0356
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   91-7 ref [1]
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
mRNA level      + normal mRNA
Phenotype       X91 0
//
ID              A84A(14); standard; MUTATION; NTERM
Accession       A0357
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Polish)
//
ID              A84A(15); standard; MUTATION; NTERM
Accession       A0534
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   LBMS
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            05-Nov-2002 (Rel. 7, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (05-Nov-2002) to CYBBbase.
RefLoc          A. Ferreira, M.C. Garcia Rodriguez, G. Fontan., Servicio
RefLoc          de Inmunologia-Edificio Anatomia Patologica-Hospital La
RefLoc          Paz-Castellana 261-28046 Madrid-Espana, Tel 917277238, Fax
RefLoc          917277095, e-mail aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
mRNA level      N.D.
Protein level   Absent
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:Carriers: Grandmother, Mother,
Relative        Aunt.
//
ID              A84A(16); standard; MUTATION; NTERM
Accession       A0577
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   Patient K
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            02-Nov-2006 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16123991
RefAuthors      Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A., 
RefAuthors      Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de 
RefAuthors      Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A., 
RefAuthors      Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto, 
RefAuthors      A.
RefTitle        Chronic granulomatous disease in latin american patients: 
RefTitle        clinical spectrum and molecular genetics.
RefLoc          Pediatr Blood Cancer:243-252 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Recurrent pneumonia and chronic lung disease, including
Symptoms        bronchiectasis and fibrosis; otitis, sinusitis, skin
Symptoms        infections, and diarrhea caused by Salmonella sp.
Sex             XY
Ethnic origin   Negroid; Brazil
Comment         Patient also have erythrocyte glucose-6-phosphate
Comment         dehydrogenase deficiency (African variant)
//
ID              A84A(17); standard; MUTATION; NTERM
Accession       A0578
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   Patient F
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            02-Nov-2006 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16123991
RefAuthors      Agudelo-Florez, P., Prando-Andrade, C. C., Lopez, J. A., 
RefAuthors      Costa-Carvalho, B. T., Quezada, A., Espinosa, F. J., de 
RefAuthors      Souza Paiva, M. A., Roxo, P., Grumach, A., Jacob, C. A., 
RefAuthors      Carneiro-Sampaio, M. M., Newburger, P. E., Condino-Neto, 
RefAuthors      A.
RefTitle        Chronic granulomatous disease in latin american patients: 
RefTitle        clinical spectrum and molecular genetics.
RefLoc          Pediatr Blood Cancer:243-252 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Cytomegalovirus infection, recurrent pneumonia,
Symptoms        tonsillitis, otitis, sinusitis, skin infection,
Symptoms        lymphadenitis, granulomas that resulted in gastric
Symptoms        obstruction, granulomas obstructing the airway and urinary
Symptoms        tract
Sex             XY
Ethnic origin   Caucasoid; Brazil
//
ID              A84A(18); standard; MUTATION; NTERM
Accession       A0633
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   P9
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            22-May-2008 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18277931
RefAuthors      Lee, P. P., Chan, K. W., Jiang, L., Chen, T., Li, C., Lee, 
RefAuthors      T. L., Mak, P. H., Fok, S. F., Yang, X., Lau, Y. L.
RefTitle        Susceptibility to mycobacterial infections in children 
RefTitle        with X-linked chronic granulomatous disease: a review of 
RefTitle        17 patients living in a region endemic for tuberculosis.
RefLoc          Pediatr Infect Dis J:224-230 (2008)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Recurrent pulmonary Tuberculosis
Sex             XY
Ethnic origin   Mongoloid
Family history  Inherited
//
ID              A84A(19); standard; MUTATION; NTERM
Accession       A0634
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   P10
Description     Point mutation in the end of exon 3 leading to splice 
Description     donor defect
Date            22-May-2008 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18277931
RefAuthors      Lee, P. P., Chan, K. W., Jiang, L., Chen, T., Li, C., Lee, 
RefAuthors      T. L., Mak, P. H., Fok, S. F., Yang, X., Lau, Y. L.
RefTitle        Susceptibility to mycobacterial infections in children 
RefTitle        with X-linked chronic granulomatous disease: a review of 
RefTitle        17 patients living in a region endemic for tuberculosis.
RefLoc          Pediatr Infect Dis J:224-230 (2008)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Skin abscess
Sex             XY
Ethnic origin   Mongoloid
Family history  Inherited
//
ID              A84A(20); standard; MUTATION; NTERM
Accession       A0642
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   patient
Description     Point mutation in the end of exon 3 leading to splice 
Description     donor defect
Date            04-Jun-2008 (Rel. 2, Created)
Date            04-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17543165
RefAuthors      Brunner, J., Dockter, G., Rosen-Wolff, A., Roesler, J.
RefTitle        X-linked chronic granulomatous disease (CGD) caused by an 
RefTitle        intra-exonic splice mutation (CYBB exon 3, c.262G->A) 
RefTitle        is mimicking juvenile sarcoidosis.
RefLoc          Clin Exp Rheumatol:336-338 (2007)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change:a A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Cervical and pulmonary lymphadenopathy, liver abscess
Sex             XY
//
ID              A84A(21); standard; MUTATION; NTERM
Accession       A0747
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(22a); standard; MUTATION; NTERM
Accession       A0748
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0749
//
ID              A84A(22b); standard; MUTATION; NTERM
Accession       A0749
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0748
//
ID              A84A(23a); standard; MUTATION; NTERM
Accession       A0750
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0751
//
ID              A84A(23b); standard; MUTATION; NTERM
Accession       A0751
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0750
//
ID              A84A(24a); standard; MUTATION; NTERM
Accession       A0752
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0753
//
ID              A84A(24b); standard; MUTATION; NTERM
Accession       A0753
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0752
//
ID              A84A(25a); standard; MUTATION; NTERM
Accession       A0754
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0755
//
ID              A84A(25b); standard; MUTATION; NTERM
Accession       A0755
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0754
//
ID              A84A(26a); standard; MUTATION; NTERM
Accession       A0756
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0757
//
ID              A84A(26b); standard; MUTATION; NTERM
Accession       A0757
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0756
//
ID              A84A(27a); standard; MUTATION; NTERM
Accession       A0758
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0759
//
ID              A84A(27b); standard; MUTATION; NTERM
Accession       A0759
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0758
//
ID              A84A(28a); standard; MUTATION; NTERM
Accession       A0760
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0761
//
ID              A84A(28b); standard; MUTATION; NTERM
Accession       A0761
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0760
//
ID              A84A(29a); standard; MUTATION; NTERM
Accession       A0762
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0763
//
ID              A84A(29b); standard; MUTATION; NTERM
Accession       A0763
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0762
//
ID              A84A(30); standard; MUTATION; NTERM
Accession       A0764
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(31); standard; MUTATION; NTERM
Accession       A0765
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(32); standard; MUTATION; NTERM
Accession       A0766
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(33); standard; MUTATION; NTERM
Accession       A0767
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(34); standard; MUTATION; NTERM
Accession       A0768
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(35); standard; MUTATION; NTERM
Accession       A0769
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(36); standard; MUTATION; NTERM
Accession       A0770
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(37); standard; MUTATION; NTERM
Accession       A0771
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(38); standard; MUTATION; NTERM
Accession       A0772
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(39); standard; MUTATION; NTERM
Accession       A0773
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(40); standard; MUTATION; NTERM
Accession       A0774
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(41); standard; MUTATION; NTERM
Accession       A0775
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(42); standard; MUTATION; NTERM
Accession       A0776
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(43); standard; MUTATION; NTERM
Accession       A0777
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A84A(44a); standard; MUTATION; NTERM
Accession       A0778
Systematic name g.4537G>T, c.252G>T, r.252g>u, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gct; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0779
//
ID              A84A(44b); standard; MUTATION; NTERM
Accession       A0779
Systematic name g.4537G>T, c.252G>T, r.252g>u, p.Ala84Ala
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gct; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0778
//
ID              A84A(45); standard; MUTATION; NTERM
Accession       A1430
Systematic name g.4537G>A, c.252G>A, r.252g>a, p.Ala84Ala
Original code   JMU
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the NTERM domain
Date            06-Nov-2013 (Rel. 2, Created)
Date            06-Nov-2013 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (06-Nov-2013) to CYBBbase.
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
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 4537
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 266
Feature           /codon: gcg -> gca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> A
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Age             4
Sex             male
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:Mother carrier
Comment         Now helthy by hematopoietic stem cell transplantation from
Comment         sister HLA identical
//
ID              #A84X107(1); standard; MUTATION; NTERM
Accession       A0110
Systematic name g.4536delC, c.251delC, r.251delc, p.Ala84fsX24
Original code   V-07 ref [1]
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 4536
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 265
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 84
Feature           /change: A -> GAAQQEFEDN WTGISPFIKW WHGX
Feature           /domain: NTERM
mRNA level      Multiple spliced mRNA's
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              C85X(1); standard; MUTATION; NTERM
Accession       A0365
Systematic name g.12910C>A, c.255C>A, r.255c>a, p.Cys85X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12910
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 269
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 85
Feature           /change: C -> X
Feature           /domain: NTERM
Phenotype       X91 0
Heme level      Normal
Sex             XY
Family history  Inherited, mother is carrier
//
ID              #R89X107(1); standard; MUTATION; NTERM
Accession       A1439
Systematic name g.12921delG, c.266delG, r.266delg, p.Arg89fsX19
Original code   JCAP
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            07-Nov-2013 (Rel. 2, Created)
Date            07-Nov-2013 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Nov-2013) to CYBBbase.
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
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 12921
Feature           /change: -g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 280
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 89
Feature           /change: R -> KFEDNWTGIS PFIKWWHGX
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Submandibular, axillary and inguinal
Symptoms        lymphadenophaty,epilepsy,
Symptoms        salmonellosis,gingivitis,pulmonary aspergillosis,anal
Symptoms        furunculosis,anal fistula,pelvic osteomyelitis,pneumonia
Age             6.5
Sex             male
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:Mother carrier
Comment         Deceased
//
ID              R91X(1); standard; MUTATION; NTERM
Accession       A0029
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   VIII-08
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Swiss)
//
ID              R91X(2); standard; MUTATION; NTERM
Accession       A0149
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   VIII-09? ref [1];III-04 ref [2]
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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       [2]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Sex             XY
//
ID              R91X(3); standard; MUTATION; NTERM
Accession       A0178
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   III-05 ref [1]
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Sex             XY
//
ID              R91X(4a); standard; MUTATION; NTERM
Accession       A0264
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   VIII-06 ref [1]
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Swedish)
Family history  Inherited, mother carrier
Relative        CYBBbase; A0265 brother
Comment         Mother is carrier
//
ID              R91X(4b); standard; MUTATION; NTERM
Accession       A0265
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   VIII-06 ref [1]
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Swedish)
Family history  Inherited, mother carrier
Relative        CYBBbase; A0264 brother
Comment         Mother is carrier
//
ID              R91X(5); standard; MUTATION; NTERM
Accession       A0266
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   VIII-07 ref [1]
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Hungarian)
Family history  Inherited, mother carrier
//
ID              R91X(6); standard; MUTATION; NTERM
Accession       A0460
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Family history  Inherited, mother carrier
//
ID              R91X(7); standard; MUTATION; NTERM
Accession       A0461
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother carrier
Comment         Mother is carrier
//
ID              R91X(8); standard; MUTATION; NTERM
Accession       A0462
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   91-8 ref [1]
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
//
ID              R91X(9); standard; MUTATION; NTERM
Accession       A0463
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
//
ID              R91X(10); standard; MUTATION; NTERM
Accession       A0464
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Phenotype       X91 0
Sex             XY
//
ID              R91X(11); standard; MUTATION; NTERM
Accession       A0643
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   proband 1
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            04-Jun-2008 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18402298
RefAuthors      Vilaiphan, P., Chatchatee, P., Ngamphaiboon, J., 
RefAuthors      Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V.
RefTitle        Nonsense mutations of the CYBB gene in two thai families 
RefTitle        with X-linked chronic granulomatous disease.
RefLoc          Asian Pac J Allergy Immunol:243-247 (2007)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Severe persistent pulmonary infections
Sex             XY
Ethnic origin   Mongoloid; Thailand
Family history  Inherited
//
ID              R91X(12); standard; MUTATION; NTERM
Accession       A0799
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(13); standard; MUTATION; NTERM
Accession       A0800
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(14); standard; MUTATION; NTERM
Accession       A0801
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(15); standard; MUTATION; NTERM
Accession       A0802
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(16); standard; MUTATION; NTERM
Accession       A0803
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(17); standard; MUTATION; NTERM
Accession       A0804
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(18); standard; MUTATION; NTERM
Accession       A0805
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(19); standard; MUTATION; NTERM
Accession       A0806
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(20); standard; MUTATION; NTERM
Accession       A0807
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(21); standard; MUTATION; NTERM
Accession       A0808
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(22); standard; MUTATION; NTERM
Accession       A0809
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(23); standard; MUTATION; NTERM
Accession       A0810
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(24); standard; MUTATION; NTERM
Accession       A0811
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R91X(25); standard; MUTATION; NTERM
Accession       A1418
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   HGP
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            20-Feb-2012 (Rel. 2, Created)
Date            20-Feb-2012 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (20-Feb-2012) to CYBBbase.
RefLoc          Antonio Ferreira; Unidad de Inmunologia-Planta SAntano
RefLoc          Hospital Materno Infantil-Hospital La Paz-Castellana
RefLoc          261-28046 Madrid-Spain; Tel 917277238; Fax 917277095;
RefLoc          e-mail aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
mRNA level      Normal
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        submandibular adenitis, intraperitoneal abcesses
Age             1
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
//
ID              R91X(26); standard; MUTATION; NTERM
Accession       A1419
Systematic name g.12926C>T, c.271C>T, r.271c>u, p.Arg91X
Original code   HGP
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            20-Feb-2012 (Rel. 2, Created)
Date            20-Feb-2012 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (20-Feb-2012) to CYBBbase.
RefLoc          Antonio Ferreira; Unidad de Inmunologia-Planta Sotano
RefLoc          Hospital Materno Infantil-Hospital La Paz-Castellana
RefLoc          261-28046 Madrid-Spain; Tel 917277238; Fax 917277095;
RefLoc          e-mail aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12926
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 285
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 91
Feature           /change: R -> X
Feature           /domain: NTERM
mRNA level      Normal
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Submandibular abcesses, intraperitoneal adenitis
Age             1
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  Inherited
Relative        Description of pedigree:Mother carrier
//
ID              #R92X107(1); standard; MUTATION; NTERM
Accession       A0798
Systematic name g.12930delG, c.275delG, r.275delg, p.Arg92fsX16
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 12930
Feature           /change: -g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 289
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 92
Feature           /change: R -> NNWTGISPFI KWWHGX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #R96X100(1); standard; MUTATION; NTERM
Accession       A0812
Systematic name g.12941_12945delAGGAA, c.286_290delAGGAA,
Systematic name r.286_290delaggaa, p.Arg96fsX5
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 12941..12945
Feature           /change: -aggaa
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 300..304
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 96..97
Feature           /change: RN -> SHLSX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #T99X107(1); standard; MUTATION; NTERM
Accession       A0097
Systematic name g.12950delA, c.295delA, r.295dela, p.Thr99fsX9
Original code   IV-32 ref [1];II-03 ref [2]
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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       [2]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 12950
Feature           /change: -a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 309
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 99
Feature           /change: T -> PFIKWWHGX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              #T99X119(1a); standard; MUTATION; NTERM
Accession       A0813
Systematic name g.12951_12961delinsTCC, c.296_306delinsTCC,
Systematic name r.296_306delinsucc, p.Thr99fsX21
Description     A frame shift indel mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 12951
Feature           /change: cctttcataa a -> tcc
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 310
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 99..102
Feature           /change: TFHK -> IHGGMDDCTS LCDSHHCTSI X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0814
Relative        CYBBbase; A0815
//
ID              #T99X119(1b); standard; MUTATION; NTERM
Accession       A0814
Systematic name g.12951_12961delinsTCC, c.296_306delinsTCC,
Systematic name r.296_306delinsucc, p.Thr99fsX21
Description     A frame shift indel mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 12951
Feature           /change: cctttcataa a -> tcc
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 310
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 99..102
Feature           /change: TFHK -> IHGGMDDCTS LCDSHHCTSI X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0813
Relative        CYBBbase; A0815
//
ID              #T99X119(1c); standard; MUTATION; NTERM
Accession       A0815
Systematic name g.12951_12961delinsTCC, c.296_306delinsTCC,
Systematic name r.296_306delinsucc, p.Thr99fsX21
Description     A frame shift indel mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 12951
Feature           /change: cctttcataa a -> tcc
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 310
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 99..102
Feature           /change: TFHK -> IHGGMDDCTS LCDSHHCTSI X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0813
Relative        CYBBbase; A0814
//
ID              H101R(1); standard; MUTATION; NTERM
Accession       A0017
Systematic name g.12957A>G, c.302A>G, r.302a>g, p.His101Arg
Original code   J.P. ref [1];VII-09(F) ref [2]
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 1710153
RefAuthors      Bolscher, B. G., de Boer, M., de Klein, A., Weening, R. 
RefAuthors      S., Roos, D.
RefTitle        Point mutations in the beta-subunit of cytochrome b558 
RefTitle        leading to X-linked chronic granulomatous disease.
RefLoc          Blood 77:2482-2487 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12957
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 316
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 101
Feature           /change: H -> R
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 0
Protein level   Strongly reduced
Heme level      Strongly reduced
Oxidase act.    Strongly reduced
NBT-slide       4 %
Sex             XX
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited, mother is carrier
//
ID              H101R(2); standard; MUTATION; NTERM
Accession       A0248
Systematic name g.12957A>G, c.302A>G, r.302a>g, p.His101Arg
Original code   VII-10 ref [1]
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12957
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 316
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 101
Feature           /change: H -> R
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Swedish)
Family history  Inherited, mother is carrier
Comment         Sister is carrier
//
ID              H101Y(1); standard; MUTATION; NTERM
Accession       A0381
Systematic name g.12956C>T, c.301C>T, r.301c>u, p.His101Tyr
Original code   91-9 ref [2]
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9856476
RefAuthors      Tsuda, M., Kaneda, M., Sakiyama, T., Inana, I., Owada, M., 
RefAuthors      Kiryu, C., Shiraishi, T., Kakinuma, K.
RefTitle        A novel mutation at a probable heme-binding ligand in 
RefTitle        neutrophil cytochrome b558 in atypical X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet 103:377-381 (1998)
RefNumber       [2]
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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12956
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 315
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 101
Feature           /change: H -> Y
Feature           /domain: NTERM
Phenotype       X91 -
//
ID              W106X(1); standard; MUTATION; NTERM
Accession       A0015
Systematic name g.12973G>A, c.318G>A, r.318g>a, p.Trp106X
Original code   VIII-10 ref [1]
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12973
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 332
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 106
Feature           /change: W -> X
Feature           /domain: NTERM
mRNA level      Reduced
Phenotype       X91 0
Heme level      0
Oxidase act.    0
Sex             XY
Family history  Inherited, mother carrier
//
ID              W106X(2); standard; MUTATION; NTERM
Accession       A0479
Systematic name g.12973G>A, c.318G>A, r.318g>a, p.Trp106X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12973
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 332
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 106
Feature           /change: W -> X
Feature           /domain: NTERM
Sex             XY
//
ID              W106X(3); standard; MUTATION; NTERM
Accession       A0586
Systematic name g.12973G>A, c.318G>A, r.318g>a, p.Trp106X
Original code   8. D.Z.
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the NTERM domain
Date            03-Nov-2006 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16569599
RefAuthors      von Goessel, H., Hossle, J. P., Seger, R., Gungor, T.
RefTitle        Characterization of 17 new cases of X-linked chronic 
RefTitle        granulomatous disease with seven novel mutations in the 
RefTitle        CYBB gene.
RefLoc          Exp Hematol:528-535 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12973
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 332
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 106
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 ?
Diagnosis       Classical X-linked CGD
Symptoms        Liver abscess (Staphylococcus aureus), perianal abscess,
Symptoms        gastroenteritis (salmonella enteritidis), lymphadenitis
Age             4
Family history  Inherited
//
ID              M107R(1); standard; MUTATION; NTERM
Accession       A0410
Systematic name g.12975T>G, c.320T>G, r.320u>g, p.Met107Arg
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12975
Feature           /change: t -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 334
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 107
Feature           /change: M -> R
Feature           /domain: NTERM
Phenotype       X91 -
//
ID              M107R(2); standard; MUTATION; NTERM
Accession       A0816
Systematic name g.12975T>G, c.320T>G, r.320u>g, p.Met107Arg
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12975
Feature           /change: t -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 334
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 107
Feature           /change: M -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @I108X122(1); standard; MUTATION; NTERM
Accession       A0057
Systematic name g.12976dupG, c.321dupG, r.321dupg, p.Ile108fsX15
Original code   V-03 ref [1]
Description     A frame shift duplication mutation in the exon 4 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 12977
Feature           /change: +g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 336
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 108
Feature           /change: I -> DCTSLCDSHH CTSIX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (Swiss)
Family history  Inherited, mother is carrier
//
ID              #A109X121(1); standard; MUTATION; NTERM
Accession       A0210
Systematic name g.12981_12982delCA, c.326_327delCA, r.326_327delca,
Systematic name p.Leu110fsX12
Original code   IV-23 ref [1]
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 12981..12982
Feature           /change: -ca
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 340..341
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 109
Feature           /change: A -> ASLCDSHHCT SIX
Feature           /domain: NTERM
Sex             XY
Ethnic origin   Caucasian (German)
//
ID              #A109X121(2); standard; MUTATION; NTERM
Accession       A0817
Systematic name g.12981_12982delCA, c.326_327delCA, r.326_327delca,
Systematic name p.Leu110fsX12
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 12981..12982
Feature           /change: -ca
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 340..341
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 109
Feature           /change: A -> ASLCDSHHCT SIX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #L110X121(1); standard; MUTATION; NTERM
Accession       A0818
Systematic name g.12985_12986delTC, c.330_331delTC, r.330_331deluc,
Systematic name p.His111fsX11
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 12985..12986
Feature           /change: -tc
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 344..345
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 110..111
Feature           /change: LH -> LLCDSHHCTS IX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S112P(1); standard; MUTATION; NTERM
Accession       A0820
Systematic name g.12989T>C, c.334T>C, r.334u>c, p.Ser112Pro
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the NTERM domain
Date            30-Aug-2010 (Rel. 2, Created)
Date            30-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 12989
Feature           /change: t -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 348
Feature           /codon: tct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 112
Feature           /change: S -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #A113X127(1); standard; MUTATION; NTERM
Accession       A0827
Systematic name g.14599delG, c.339delG, r.339delg, p.Ile114fsX14
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14599
Feature           /change: -g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 353
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 113
Feature           /change: A -> AFTPLHIYLM WNGVX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              H115Q(1); standard; MUTATION; NTERM
Accession       A0382
Systematic name g.14605C>A, c.345C>A, r.345c>a, p.His115Gln
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14605
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 359
Feature           /codon: cac -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 115
Feature           /change: H -> Q
Feature           /domain: NTERM
//
ID              H115Y(1); standard; MUTATION; NTERM
Accession       A0383
Systematic name g.14603C>T, c.343C>T, r.343c>u, p.His115Tyr
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            26-Jul-2002 (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
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14603
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 357
Feature           /codon: cac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 115
Feature           /change: H -> Y
Feature           /domain: NTERM
Sex             XY
//
ID              #A118X127(1); standard; MUTATION; NTERM
Accession       A0103
Systematic name g.14614delA, c.354delA, r.354dela, p.His119fsX9
Original code   II-04 ref [1]
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14614
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 368
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 118
Feature           /change: A -> AIYLMWNGVX
Feature           /domain: NTERM
Phenotype       X91 0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              H119R(1); standard; MUTATION; NTERM
Accession       A0384
Systematic name g.14616A>G, c.356A>G, r.356a>g, p.His119Arg
Original code   IV-04 ref [1]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14616
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 370
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 119
Feature           /change: H -> R
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              H119R(2); standard; MUTATION; NTERM
Accession       A0385
Systematic name g.14616A>G, c.356A>G, r.356a>g, p.His119Arg
Original code   IV-05 ref [1]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14616
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 370
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 119
Feature           /change: H -> R
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              @H119X122(1); standard; MUTATION; NTERM
Accession       A0007
Systematic name g.14616dupA, c.356dupA, r.356dupa, p.His119fsX4
Original code   V-04 ref [1]
Description     A frame shift duplication mutation in the exon 5 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 14617
Feature           /change: +a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 371
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 119
Feature           /change: H -> QSIX
Feature           /domain: NTERM
mRNA level      0
Phenotype       X91 0
Heme level      0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Comment         Sister normal
//
ID              L120P(1); standard; MUTATION; NTERM
Accession       A0249
Systematic name g.14619T>C, c.359T>C, r.359u>c, p.Leu120Pro
Original code   VII-11 ref [1]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14619
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 373
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 120
Feature           /change: L -> P
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
//
ID              #L120X122(1); standard; MUTATION; NTERM
Accession       A0828
Systematic name g.14620_14635delATTTAATGTGGAATGG,
Systematic name c.360_375delATTTAATGTGGAATGG, r.360_375delauuuaauguggaaugg,
Systematic name p.Phe121fsX2
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14620..14635
Feature           /change: -atttaatgtg gaatgg
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 374..389
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 120..125
Feature           /change: LFNVEW -> LVX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              E124X(1); standard; MUTATION; NTERM
Accession       A0829
Systematic name g.14630G>T, c.370G>T, r.370g>u, p.Glu124X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14630
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 384
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 124
Feature           /change: E -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              W125C(1); standard; MUTATION; NTERM
Accession       A0480
Systematic name g.14635G>T, c.375G>T, r.375g>u, p.Trp125Cys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14635
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 389
Feature           /codon: tgg -> tgt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 125
Feature           /change: W -> C
Feature           /domain: NTERM
//
ID              W125X(1); standard; MUTATION; NTERM
Accession       A0564
Systematic name g.14635G>A, c.375G>A, r.375g>a, p.Trp125X
Original code   P2
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            01-Nov-2006 (Rel. 2, Created)
Date            01-Nov-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15538631
RefAuthors      Stasia, M. J., Bordigoni, P., Floret, D., Brion, J. P., 
RefAuthors      Bost-Bru, C., Michel, G., Gatel, P., Durant-Vital, D., 
RefAuthors      Voelckel, M. A., Li, X. J., Guillot, M., Maquet, E., 
RefAuthors      Martel, C., Morel, F.
RefTitle        Characterization of six novel mutations in the CYBB gene 
RefTitle        leading to different sub-types of X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet:72-82 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14635
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 389
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 125
Feature           /change: W -> X
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Pulmonary aspergillosis, liver abscess, becegitis,
Symptoms        pneumonia, lymphadenitis
Sex             XY
//
ID              W125X(2); standard; MUTATION; NTERM
Accession       A0830
Systematic name g.14634G>A, c.374G>A, r.374g>a, p.Trp125X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14634
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 388
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 125
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @A129X134(1); standard; MUTATION; NTERM
Accession       A0831
Systematic name g.14642_14645dup, c.382_385dup, r.382_385dup, p.Ala129fsX6
Description     A frame shift duplication mutation in the exon 5 leading to
Description     a premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 14646
Feature           /change: +aatg
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 400
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 129
Feature           /change: A -> ECPSQX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130L(1); standard; MUTATION; NTERM
Accession       A0862
Systematic name g.14649G>T, c.389G>T, r.389g>u, p.Arg130Leu
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14649
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 403
Feature           /codon: cga -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> L
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130P(1); standard; MUTATION; NTERM
Accession       A0861
Systematic name g.14649G>C, c.389G>C, r.389g>c, p.Arg130Pro
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14649
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 403
Feature           /codon: cga -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(1); standard; MUTATION; NTERM
Accession       A0065
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   J1 ref [?];91-11 ref [2]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
RefNumber       [2]
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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Japanese
Family history  Inherited, mother is carrier
Comment         Sister is carrier
//
ID              R130X(2); standard; MUTATION; NTERM
Accession       A0113
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   III-06 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Symptoms        Classical CGD
Sex             XX
Comment         Carrier
//
ID              R130X(3); standard; MUTATION; NTERM
Accession       A0267
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   VIII-11 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Hungarian)
//
ID              R130X(4a); standard; MUTATION; NTERM
Accession       A0268
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   VIII-12 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Polish)
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0269 brother
//
ID              R130X(4b); standard; MUTATION; NTERM
Accession       A0269
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   VIII-12 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Polish)
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0268 brother
//
ID              R130X(5); standard; MUTATION; NTERM
Accession       A0270
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   VIII-13 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              R130X(6); standard; MUTATION; NTERM
Accession       A0271
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   VIII-14 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
//
ID              R130X(7); standard; MUTATION; NTERM
Accession       A0272
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              R130X(8); standard; MUTATION; NTERM
Accession       A0427
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Comment         Mother and aunt heterozygous
//
ID              R130X(9); standard; MUTATION; NTERM
Accession       A0428
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R130X(10); standard; MUTATION; NTERM
Accession       A0429
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
//
ID              R130X(11); standard; MUTATION; NTERM
Accession       A0430
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R130X(12); standard; MUTATION; NTERM
Accession       A0431
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R130X(13); standard; MUTATION; NTERM
Accession       A0432
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat 18:163 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
//
ID              R130X(14); standard; MUTATION; NTERM
Accession       A0587
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   9. H.G.
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            03-Nov-2006 (Rel. 2, Created)
Date            03-Nov-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16569599
RefAuthors      von Goessel, H., Hossle, J. P., Seger, R., Gungor, T.
RefTitle        Characterization of 17 new cases of X-linked chronic 
RefTitle        granulomatous disease with seven novel mutations in the 
RefTitle        CYBB gene.
RefLoc          Exp Hematol:528-535 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Brain abscess, liver abscess, spleen abscess, cervical
Symptoms        abscess (Staphylococcus aureus), retroperitoneal
Symptoms        lymphadenopathy
Age             8 mo
Family history  Inherited
//
ID              R130X(15); standard; MUTATION; NTERM
Accession       A0596
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Original code   Patient 1
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            15-Mar-2007 (Rel. 2, Created)
Date            15-Mar-2007 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17089090
RefAuthors      Chollet-Martin, S., Lopez, A., Gaud, C., Henry, D., Stos, 
RefAuthors      B., El Benna, J., Chedevile, G., Gendrel, D., Gougerot-
RefAuthors      Pocidalo, M. A., Grandchamp, B., Gerard, B.
RefTitle        Severe X-linked chronic granulomatous disease in two 
RefTitle        unrelated females.
RefLoc          Eur J Pediatr:153-159 (2007)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        skin abscesses, skin ulcers
Age             14
Sex             XX
Ethnic origin   Caucasoid; Tahiti
Family history  De novo
//
ID              R130X(16a); standard; MUTATION; NTERM
Accession       A0834
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0835
//
ID              R130X(16b); standard; MUTATION; NTERM
Accession       A0835
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0834
//
ID              R130X(17a); standard; MUTATION; NTERM
Accession       A0836
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0837
//
ID              R130X(17b); standard; MUTATION; NTERM
Accession       A0837
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0836
//
ID              R130X(18); standard; MUTATION; NTERM
Accession       A0838
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(19); standard; MUTATION; NTERM
Accession       A0839
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(20); standard; MUTATION; NTERM
Accession       A0840
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(21); standard; MUTATION; NTERM
Accession       A0841
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(22); standard; MUTATION; NTERM
Accession       A0842
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(23); standard; MUTATION; NTERM
Accession       A0843
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(24); standard; MUTATION; NTERM
Accession       A0844
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(25); standard; MUTATION; NTERM
Accession       A0845
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(26); standard; MUTATION; NTERM
Accession       A0846
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(27); standard; MUTATION; NTERM
Accession       A0847
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(28); standard; MUTATION; NTERM
Accession       A0848
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(29); standard; MUTATION; NTERM
Accession       A0849
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(30); standard; MUTATION; NTERM
Accession       A0850
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(31); standard; MUTATION; NTERM
Accession       A0851
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(32); standard; MUTATION; NTERM
Accession       A0852
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(33); standard; MUTATION; NTERM
Accession       A0853
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(34); standard; MUTATION; NTERM
Accession       A0854
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(35); standard; MUTATION; NTERM
Accession       A0855
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(36); standard; MUTATION; NTERM
Accession       A0856
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(37); standard; MUTATION; NTERM
Accession       A0857
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(38); standard; MUTATION; NTERM
Accession       A0858
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(39); standard; MUTATION; NTERM
Accession       A0859
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R130X(40); standard; MUTATION; NTERM
Accession       A0860
Systematic name g.14648C>T, c.388C>T, r.388c>u, p.Arg130X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #R130X139(1); standard; MUTATION; NTERM
Accession       A0832
Systematic name g.14648delC, c.388delC, r.388delc, p.Arg130fsX10
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> ESIILILIQX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #R130X139(2); standard; MUTATION; NTERM
Accession       A0833
Systematic name g.14648delC, c.388delC, r.388delc, p.Arg130fsX10
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14648
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 402
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> ESIILILIQX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @R130X133(1); standard; MUTATION; NTERM
Accession       A0080
Systematic name g.14648_14649insT, c.388_389insT, r.388_389insu,
Systematic name p.Arg130fsX4
Original code   patient 2 ref []
Description     A frame shift insertion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0025: 14649
Feature           /change: +t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 403
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 130
Feature           /change: R -> LSQX
Feature           /domain: NTERM
mRNA level      Present
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Italian)
Family history  Inherited, mother is carrier
Comment         Brother affected (died)
//
ID              #N132X135(1); standard; MUTATION; NTERM
Accession       A0863
Systematic name g.14654_14666delAATAATTCTGATC, c.394_406delAATAATTCTGATC,
Systematic name r.394_406delaauaauucugauc, p.Asn132fsX4
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14654..14666
Feature           /change: -aataattctg atc
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 408..420
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 132..136
Feature           /change: NNSDP -> LIQX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #N133X139(1); standard; MUTATION; NTERM
Accession       A0543
Systematic name g.14658delA, c.398delA, r.398dela, p.Asn133fsX7
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            19-Oct-2006 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11978610
RefAuthors      Lun, A., Roesler, J., Renz, H.
RefTitle        Unusual late onset of X-linked chronic granulomatous 
RefTitle        disease in an adult woman after unsuspicious childhood.
RefLoc          Clin Chem:780-781 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14658
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 412
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 133
Feature           /change: N -> ILILIQX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Since the age of 18 years; recurrent serious conditions
Symptoms        typical of CGD, including Arpergillus fumigatus infection
Symptoms        and formation of intestinal granulomas, cutaneous abscesses
Symptoms        in the anogenital and back region, recurrent bacterial
Symptoms        pneumonia
Age             43
Sex             XX
Comment         For the first 17 years of her life, no typical CGD
Comment         infections and no typical CGD symptoms occurred
//
ID              Y137X(1); standard; MUTATION; NTERM
Accession       A0864
Systematic name g.14671T>A, c.411T>A, r.411u>a, p.Tyr137X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14671
Feature           /change: t -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 425
Feature           /codon: tat -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 137
Feature           /change: Y -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S138X(1); standard; MUTATION; NTERM
Accession       A0866
Systematic name g.14673C>A, c.413C>A, r.413c>a, p.Ser138X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14673
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 427
Feature           /codon: tca -> taa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 138
Feature           /change: S -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S138X(2); standard; MUTATION; NTERM
Accession       A0867
Systematic name g.14673C>A, c.413C>A, r.413c>a, p.Ser138X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14673
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 427
Feature           /codon: tca -> taa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 138
Feature           /change: S -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #S138X158(1); standard; MUTATION; NTERM
Accession       A0865
Systematic name g.14672_14678delTCAGTAG, c.412_418delTCAGTAG,
Systematic name r.412_418delucaguag, p.Ser138fsX21
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14672..14678
Feature           /change: -tcagtag
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 426..432
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 138..140
Feature           /change: SVA -> HSLNLETGKM KVISILLERE X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              L141P(1); standard; MUTATION; NTERM
Accession       A0559
Systematic name g.14682T>C, c.422T>C, r.422u>c, p.Leu141Pro
Original code   Patient 5
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            31-Oct-2006 (Rel. 2, Created)
Date            31-Oct-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15082894
RefAuthors      Oh, H. B., Park, J. S., Lee, W., Yoo, S. J., Yang, J. H., 
RefAuthors      Oh, S. Y.
RefTitle        Molecular analysis of X-linked chronic granulomatous 
RefTitle        disease in five unrelated korean patients.
RefLoc          J Korean Med Sci:218-222 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14682
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025: 436
Feature           /codon: ctc -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 141
Feature           /change: L -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Upper respiratory infection, lymphadenitis and liver
Symptoms        abscesses
Sex             XY
Ethnic origin   Mongoloid; Korea
//
ID              L141P(2); standard; MUTATION; NTERM
Accession       A0868
Systematic name g.14682T>C, c.422T>C, r.422u>c, p.Leu141Pro
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14682
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 436
Feature           /codon: ctc -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 141
Feature           /change: L -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S142P(1); standard; MUTATION; NTERM
Accession       A0465
Systematic name g.14684T>C, c.424T>C, r.424u>c, p.Ser142Pro
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14684
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 438
Feature           /codon: tct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 142
Feature           /change: S -> P
Feature           /domain: NTERM
Family history  Inherited, mother carrier
//
ID              Q148X(1); standard; MUTATION; NTERM
Accession       A0111
Systematic name g.14702_14703delinsT, c.442_443delinsT, r.442_443delinsu,
Systematic name p.Gln148X
Description     An indel mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            15-Jun-1996 (Rel. 1, Created)
Date            24-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
Reference       Curnutte '95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 14702..14703
Feature           /change: ca -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 456..457
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 148
Feature           /change: Q -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Sex             XY
//
ID              Q148X(2); standard; MUTATION; NTERM
Accession       A0273
Systematic name g.14702C>T, c.442C>T, r.442c>u, p.Gln148X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14702
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 456
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 148
Feature           /change: Q -> X
Feature           /domain: NTERM
//
ID              Q148X(3); standard; MUTATION; NTERM
Accession       A0420
Systematic name g.14702C>T, c.442C>T, r.442c>u, p.Gln148X
Original code   91-12 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14702
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 456
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 148
Feature           /change: Q -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              @N149X150(1); standard; MUTATION; NTERM
Accession       A0139
Systematic name g.14706dupA, c.446dupA, r.446dupa, p.Asn149fsX2
Original code   II-06 ref [2]
Description     A frame shift duplication mutation in the exon 5 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8500277
RefAuthors      Curnutte, J. T.
RefTitle        Chronic granulomatous disease: the solving of a clinical 
RefTitle        riddle at the molecular level.
RefLoc          Clin Immunol Immunopathol 67:S2-15 (1993)
RefNumber       [2]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 14707
Feature           /change: +a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 461
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 149
Feature           /change: N -> KX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              E150X(1); standard; MUTATION; NTERM
Accession       A0869
Systematic name g.14708G>T, c.448G>T, r.448g>u, p.Glu150X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14708
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 462
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 150
Feature           /change: E -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #E150X163(1); standard; MUTATION; NTERM
Accession       A0870
Systematic name g.14710_14711delAA, c.450_451delAA, r.450_451delaa,
Systematic name p.Ser151fsX13
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14710..14711
Feature           /change: -aa
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 464..465
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 150..151
Feature           /change: ES -> ELSQFCSKEN KEPX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              Y152X(1); standard; MUTATION; NTERM
Accession       A0124
Systematic name g.14716T>A, c.456T>A, r.456u>a, p.Tyr152X
Original code   III-07 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14716
Feature           /change: t -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 470
Feature           /codon: tat -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 152
Feature           /change: Y -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              Y152X(2); standard; MUTATION; NTERM
Accession       A0644
Systematic name g.14716T>A, c.456T>A, r.456u>a, p.Tyr152X
Original code   proband 2
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            04-Jun-2008 (Rel. 2, Created)
Date            04-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18402298
RefAuthors      Vilaiphan, P., Chatchatee, P., Ngamphaiboon, J., 
RefAuthors      Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V.
RefTitle        Nonsense mutations of the CYBB gene in two thai families 
RefTitle        with X-linked chronic granulomatous disease.
RefLoc          Asian Pac J Allergy Immunol:243-247 (2007)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14716
Feature           /change: t -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 470
Feature           /codon: tat -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 152
Feature           /change: Y -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Severe persistent pulmonary infections
Sex             XY
Ethnic origin   Mongoloid; Thailand
Family history  Inherited
//
ID              #Y152X163(1); standard; MUTATION; NTERM
Accession       A0332
Systematic name g.14715_14716delAT, c.455_456delAT, r.455_456delau,
Systematic name p.Tyr152fsX12
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14715..14716
Feature           /change: -at
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 469..470
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 152
Feature           /change: Y -> SQFCSKENKE PX
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              L153R(1a); standard; MUTATION; NTERM
Accession       A0871
Systematic name g.14718T>G, c.458T>G, r.458u>g, p.Leu153Arg
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14718
Feature           /change: t -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 472
Feature           /codon: ctc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 153
Feature           /change: L -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0872
//
ID              L153R(1b); standard; MUTATION; NTERM
Accession       A0872
Systematic name g.14718T>G, c.458T>G, r.458u>g, p.Leu153Arg
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14718
Feature           /change: t -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 472
Feature           /codon: ctc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 153
Feature           /change: L -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0871
//
ID              #N154X160(1); standard; MUTATION; NTERM
Accession       A0873
Systematic name g.14721delA, c.461delA, r.461dela, p.Asn154fsX7
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14721
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 475
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 154
Feature           /change: N -> ILLEREX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A156T(1); standard; MUTATION; NTERM
Accession       A0055
Systematic name g.14726G>A, c.466G>A, r.466g>a, p.Ala156Thr
Original code   VII-12 ref [2]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 1710153
RefAuthors      Bolscher, B. G., de Boer, M., de Klein, A., Weening, R. 
RefAuthors      S., Roos, D.
RefTitle        Point mutations in the beta-subunit of cytochrome b558 
RefTitle        leading to X-linked chronic granulomatous disease.
RefLoc          Blood 77:2482-2487 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14726
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 480
Feature           /codon: gct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 156
Feature           /change: A -> T
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Weak, Mr increased
Heme level      Strongly decreased (8%)
Oxidase act.    Decreased (15%)
NBT-slide       97% weakly positive
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (Swiss)
//
ID              A156T(2); standard; MUTATION; NTERM
Accession       A0137
Systematic name g.14726G>A, c.466G>A, r.466g>a, p.Ala156Thr
Original code   IV-06 ref [1]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14726
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 480
Feature           /codon: gct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 156
Feature           /change: A -> T
Feature           /domain: NTERM
mRNA level      0
Phenotype       X91 - 
Protein level   Decreased 
Oxidase act.    Decreased (3)
Symptoms        Mild CGD
Sex             XY
//
ID              A156T(3); standard; MUTATION; NTERM
Accession       A0187
Systematic name g.14726G>A, c.466G>A, r.466g>a, p.Ala156Thr
Original code   IV-07 ref [1]
Description     Point mutation in the exon 5 leading to an amino acid 
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14726
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 480
Feature           /codon: gct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 156
Feature           /change: A -> T
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Decreased (3)
Oxidase act.    Decreased (2)
Symptoms        Mild CGD
Sex             XY
//
ID              R157X(1a); standard; MUTATION; NTERM
Accession       A0074
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   VIII-16 ref [2];91-13 ref [4]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7907031
RefAuthors      Ariga, T., Sakiyama, Y., Furuta, H., Matsumoto, S.
RefTitle        Molecular genetic studies of two families with X-linked 
RefTitle        chronic granulomatous disease: mutation analysis and 
RefTitle        definitive determination of carrier status in patients\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 (1994)
RefNumber       [3]
RefCrossRef     PUBMED; 9667376
RefAuthors      Ariga, T., Furuta, H., Cho, K., Sakiyama, Y.
RefTitle        Genetic analysis of 13 families with X-linked chronic 
RefTitle        granulomatous disease reveals a low proportion of sporadic 
RefTitle        patients and a high proportion of sporadic carriers.
RefLoc          Pediatr Res 44:85-92 (1998)
RefNumber       [4]
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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 0
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Japanese
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0075 nephew
//
ID              R157X(1b); standard; MUTATION; NTERM
Accession       A0075
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   VIII-16(4)91-13 ref [2]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7907031
RefAuthors      Ariga, T., Sakiyama, Y., Furuta, H., Matsumoto, S.
RefTitle        Molecular genetic studies of two families with X-linked 
RefTitle        chronic granulomatous disease: mutation analysis and 
RefTitle        definitive determination of carrier status in patients\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 (1994)
RefNumber       [3]
RefCrossRef     PUBMED; 9667376
RefAuthors      Ariga, T., Furuta, H., Cho, K., Sakiyama, Y.
RefTitle        Genetic analysis of 13 families with X-linked chronic 
RefTitle        granulomatous disease reveals a low proportion of sporadic 
RefTitle        patients and a high proportion of sporadic carriers.
RefLoc          Pediatr Res 44:85-92 (1998)
RefNumber       [4]
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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 0
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Japanese
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0074 uncle
//
ID              R157X(2); standard; MUTATION; NTERM
Accession       A0095
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   III-08 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Symptoms        Classical CGD
Sex             XY
//
ID              R157X(3); standard; MUTATION; NTERM
Accession       A0098
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   III-09 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              R157X(4); standard; MUTATION; NTERM
Accession       A0152
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   III-10 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Symptoms        Classical CGD
Sex             XY
//
ID              R157X(5); standard; MUTATION; NTERM
Accession       A0177
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   III-11 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
//
ID              R157X(6); standard; MUTATION; NTERM
Accession       A0274
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   VIII-17 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Italian)
Family history  Inherited, mother is carrier
//
ID              R157X(7); standard; MUTATION; NTERM
Accession       A0275
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   VIII-18 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Swedish)
Family history  Inherited, mother is carrier
Comment         Father and brother normal
//
ID              R157X(8a); standard; MUTATION; NTERM
Accession       A0276
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   VIII-19 ref [1]
Description     Point mutation in the exon 5 leading to a premature stop 
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Polish)
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0277 cousin
Comment         Sister carrier
//
ID              R157X(8b); standard; MUTATION; NTERM
Accession       A0277
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   VIII-19 ref [1]
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Polish)
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0276 cousin
//
ID              R157X(9); standard; MUTATION; NTERM
Accession       A0433
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
Family history  Inherited, mother is carrier
Comment         Brother (functionally) normal
//
ID              R157X(10); standard; MUTATION; NTERM
Accession       A0434
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R157X(11); standard; MUTATION; NTERM
Accession       A0565
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   P3
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            01-Nov-2006 (Rel. 2, Created)
Date            01-Nov-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15538631
RefAuthors      Stasia, M. J., Bordigoni, P., Floret, D., Brion, J. P., 
RefAuthors      Bost-Bru, C., Michel, G., Gatel, P., Durant-Vital, D., 
RefAuthors      Voelckel, M. A., Li, X. J., Guillot, M., Maquet, E., 
RefAuthors      Martel, C., Morel, F.
RefTitle        Characterization of six novel mutations in the CYBB gene 
RefTitle        leading to different sub-types of X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet:72-82 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Pulmonary aspergillosis, cerebral aspergillosis,
Symptoms        retro-pharyngeal abscess, bacterial mastoiditis
Sex             XY
//
ID              R157X(12a); standard; MUTATION; NTERM
Accession       A0566
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   P4a
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            01-Nov-2006 (Rel. 2, Created)
Date            01-Nov-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15538631
RefAuthors      Stasia, M. J., Bordigoni, P., Floret, D., Brion, J. P., 
RefAuthors      Bost-Bru, C., Michel, G., Gatel, P., Durant-Vital, D., 
RefAuthors      Voelckel, M. A., Li, X. J., Guillot, M., Maquet, E., 
RefAuthors      Martel, C., Morel, F.
RefTitle        Characterization of six novel mutations in the CYBB gene 
RefTitle        leading to different sub-types of X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet:72-82 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Liver abscess, severe sepsis to Salmonella, purulent
Symptoms        rhinitis, pyodermitis buccal aphthosis, pneumonia, osteitis
Sex             XY
Family history  Inherited
Relative        CYBBbase; A0567 brother
//
ID              R157X(12b); standard; MUTATION; NTERM
Accession       A0567
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   P4b
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            01-Nov-2006 (Rel. 2, Created)
Date            01-Nov-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15538631
RefAuthors      Stasia, M. J., Bordigoni, P., Floret, D., Brion, J. P., 
RefAuthors      Bost-Bru, C., Michel, G., Gatel, P., Durant-Vital, D., 
RefAuthors      Voelckel, M. A., Li, X. J., Guillot, M., Maquet, E., 
RefAuthors      Martel, C., Morel, F.
RefTitle        Characterization of six novel mutations in the CYBB gene 
RefTitle        leading to different sub-types of X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet:72-82 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Pulmonary aspergillosis, severe sepsis to Salmonella,
Symptoms        purulent rhinitis, pneumonia, gastric granuloma
Sex             XY
Family history  Inherited
Relative        CYBBbase; A0566 brother
//
ID              R157X(13); standard; MUTATION; NTERM
Accession       A0568
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   P5
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            01-Nov-2006 (Rel. 2, Created)
Date            01-Nov-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15538631
RefAuthors      Stasia, M. J., Bordigoni, P., Floret, D., Brion, J. P., 
RefAuthors      Bost-Bru, C., Michel, G., Gatel, P., Durant-Vital, D., 
RefAuthors      Voelckel, M. A., Li, X. J., Guillot, M., Maquet, E., 
RefAuthors      Martel, C., Morel, F.
RefTitle        Characterization of six novel mutations in the CYBB gene 
RefTitle        leading to different sub-types of X-linked chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet:72-82 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Lobar pneumonia, salmonellosis, anal fissures, cervical
Symptoms        adenopathies, recurrent impetigo
Sex             XY
Family history  Inherited
//
ID              R157X(14a); standard; MUTATION; NTERM
Accession       A0874
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0875
//
ID              R157X(14b); standard; MUTATION; NTERM
Accession       A0875
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0874
//
ID              R157X(15); standard; MUTATION; NTERM
Accession       A0876
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(16); standard; MUTATION; NTERM
Accession       A0877
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(17); standard; MUTATION; NTERM
Accession       A0878
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(18); standard; MUTATION; NTERM
Accession       A0879
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(19); standard; MUTATION; NTERM
Accession       A0880
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(20); standard; MUTATION; NTERM
Accession       A0881
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(21); standard; MUTATION; NTERM
Accession       A0882
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(22); standard; MUTATION; NTERM
Accession       A0883
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(23); standard; MUTATION; NTERM
Accession       A0884
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(24); standard; MUTATION; NTERM
Accession       A0885
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(25); standard; MUTATION; NTERM
Accession       A0886
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(26); standard; MUTATION; NTERM
Accession       A0887
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R157X(27); standard; MUTATION; NTERM
Accession       A1424
Systematic name g.14729C>T, c.469C>T, r.469c>u, p.Arg157X
Original code   ACS
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the NTERM domain
Date            03-Oct-2013 (Rel. 2, Created)
Date            03-Oct-2013 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (03-Oct-2013) to CYBBbase.
RefLoc          Antonio Ferreira; PLanta Sotano Hospital Infantil-Hospital
RefLoc          La Paz-Castellana261-28046 Madrid-Spain; Tel 34 917277238;
RefLoc          Fax 34 917277095; e-mail aferreira.hulp@salud.madrid.org
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14729
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 483
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 157
Feature           /change: R -> X
Feature           /domain: NTERM
Protein level   Absent
Activity        Inactive
Diagnosis       Classical X-linked CGD
Symptoms        Leishmania and hemophagocytic syndrome
Age             5
Ethnic origin   Caucasoid; Spain
Family history  Not known
Relative        Description of pedigree:Mother and sister carriers
//
ID              #K158X159(1); standard; MUTATION; NTERM
Accession       A0311
Systematic name g.14732_14735delAAGA, c.472_475delAAGA, r.472_475delaaga,
Systematic name p.Lys158fsX2
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14732..14735
Feature           /change: -aaga
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 486..489
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 158..159
Feature           /change: KR -> EX
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              #R159X169(1); standard; MUTATION; NTERM
Accession       A0888
Systematic name g.14735_14741delAGAATAA, c.475_481delAGAATAA,
Systematic name r.475_481delagaauaa, p.Ile160fsX10
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 14735..14741
Feature           /change: -agaataa
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 489..495
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 159..161
Feature           /change: RIK -> RTLKEACTWL X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @I160X164(1); standard; MUTATION; NTERM
Accession       A0335
Systematic name g.14739dupT, c.479dupT, r.479dupu, p.Asn162fsX3
Description     A frame shift duplication mutation in the exon 5 leading to
Description     a premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 14740
Feature           /change: +t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 494
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 160
Feature           /change: I -> IKEPX
Feature           /domain: NTERM
Comment          both parents normal
//
ID              K161N(1); standard; MUTATION; NTERM
Accession       A0233
Systematic name g.14743G>T, c.483G>T, r.483g>u, p.Lys161Asn
Original code   "VI-10; VII-13" ref [1]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14743
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 497
Feature           /codon: aag -> aat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 161
Feature           /change: K -> N
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
//
ID              K161R(1a); standard; MUTATION; NTERM
Accession       A0179
Systematic name g.14742A>G, c.482A>G, r.482a>g, p.Lys161Arg
Original code   V-14 ref [1]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14742
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 496
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 161
Feature           /change: K -> R
Feature           /domain: NTERM
Protein level   Decreased
Oxidase act.    Decreased
Symptoms        Mild CGD
Sex             XY
Relative        CYBBbase; A0180 brother
//
ID              K161R(1b); standard; MUTATION; NTERM
Accession       A0180
Systematic name g.14742A>G, c.482A>G, r.482a>g, p.Lys161Arg
Original code   V-14 ref [1]
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 14742
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 496
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 161
Feature           /change: K -> R
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   Decreased
Oxidase act.    Decreased
Symptoms        Mild CGD
Sex             XY
Relative        CYBBbase; A0179 brother
//
ID              #L173X188(1); standard; MUTATION; NTERM
Accession       A0217
Systematic name g.16917delC, c.517delC, r.517delc, p.Leu173fsX16
Original code   IV-33 ref [1]
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16917
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 531
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 173
Feature           /change: L -> CWQASLELSS RCASYX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
NBT-slide       0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              G179E(1); standard; MUTATION; NTERM
Accession       A0903
Systematic name g.16936G>A, c.536G>A, r.536g>a, p.Gly179Glu
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16936
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 550
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 179
Feature           /change: G -> E
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              G179R(1); standard; MUTATION; NTERM
Accession       A0375
Systematic name g.16935G>A, c.535G>A, r.535g>a, p.Gly179Arg
Original code   N.V. ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9794433
RefAuthors      Dusi, S., Nadalini, K. A., Donini, M., Zentilin, L., 
RefAuthors      Wientjes, F. B., Roos, D., Giacca, M., Rossi, F.
RefTitle        Nicotinamide-adenine dinucleotide phosphate oxidase 
RefTitle        assembly and activation in EBV-transformed B 
RefTitle        lymphoblastoid cell lines of normal and chronic 
RefTitle        granulomatous disease patients.
RefLoc          J Immunol 161:4968-4974 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16935
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 549
Feature           /codon: gga -> aga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 179
Feature           /change: G -> R
Feature           /domain: NTERM
Phenotype       X91 0
Oxidase act.    0
//
ID              G179X(1); standard; MUTATION; NTERM
Accession       A0901
Systematic name g.16935G>T, c.535G>T, r.535g>u, p.Gly179X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16935
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 549
Feature           /codon: gga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 179
Feature           /change: G -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              G179X(2); standard; MUTATION; NTERM
Accession       A0902
Systematic name g.16935G>T, c.535G>T, r.535g>u, p.Gly179X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16935
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 549
Feature           /codon: gga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 179
Feature           /change: G -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #T183-4(1); standard; MUTATION; NTERM
Accession       A0904
Systematic name g.16948_16959delCGCTGTGCCTCA, c.548_559delCGCTGTGCCTCA,
Systematic name r.548_559delcgcugugccuca, p.Thr183del
Description     An inframe deletion in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16948..16959
Feature           /change: -cgctgtgcct ca
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 562..573
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: GenBank: NP_000388: 183..187
Feature           /change: TLCLI -> I
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              C185R(1); standard; MUTATION; NTERM
Accession       A0905
Systematic name g.16953T>C, c.553T>C, r.553u>c, p.Cys185Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16953
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 567
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 185
Feature           /change: C -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              C185X(1); standard; MUTATION; NTERM
Accession       A0182
Systematic name g.16955C>A, c.555C>A, r.555c>a, p.Cys185X
Original code   III-12 ref [1]
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16955
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 569
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 185
Feature           /change: C -> X
Feature           /domain: NTERM
Sex             XY
//
ID              C185X(2); standard; MUTATION; NTERM
Accession       A0358
Systematic name g.16955C>A, c.555C>A, r.555c>a, p.Cys185X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16955
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 569
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 185
Feature           /change: C -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              C185X(3); standard; MUTATION; NTERM
Accession       A0906
Systematic name g.16955C>A, c.555C>A, r.555c>a, p.Cys185X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16955
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 569
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 185
Feature           /change: C -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #C185X188(1); standard; MUTATION; NTERM
Accession       A0218
Systematic name g.16954delG, c.554delG, r.554delg, p.Cys185fsX4
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16954
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 568
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 185
Feature           /change: C -> SSYX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Sex             XY
Family history  De novo mutation, mother not carrier
Comment         Father, mother and sister normal
//
ID              #I187-3(1); standard; MUTATION; NTERM
Accession       A0907
Systematic name g.16959_16967delATATTAATT, c.559_567delATATTAATT,
Systematic name r.559_567delauauuaauu, p.Ile187_Ile190del
Description     An inframe deletion in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16959..16967
Feature           /change: -atattaatt
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 573..581
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: GenBank: NP_000388: 187..189
Feature           /change: -ILI
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @I187+2(2); standard; MUTATION; NTERM
Accession       A0585
Systematic name g.16955_16960dup, c.555_560dup, r.555_560dup,
Systematic name p.Leu186_Ile187insIleLeuIle
Original code   6. D.S.
Description     A duplication mutation in the exon 6 leading to an amino
Description     acid change in the NTERM domain
Date            03-Nov-2006 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 16569599
RefAuthors      von Goessel, H., Hossle, J. P., Seger, R., Gungor, T.
RefTitle        Characterization of 17 new cases of X-linked chronic 
RefTitle        granulomatous disease with seven novel mutations in the 
RefTitle        CYBB gene.
RefLoc          Exp Hematol:528-535 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 16961
Feature           /change: +cctcat
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe duplication
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 575
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: insertion; inframe
Feature           /loc: GenBank: NP_000388: 187
Feature           /change: I -> ILI
Feature           /domain: NTERM
Phenotype       X91 0
Diagnosis       Classical X-linked CGD
Symptoms        Liver abscess (Enterobacter aerogenes), lymphadenitis,
Symptoms        cervical abscesses, gastroenteritis, pneumonia
Age             2
Family history  Inherited
//
ID              #I189X212(1); standard; MUTATION; NTERM
Accession       A0309
Systematic name g.16965_16968delATTA, c.565_568delATTA, r.565_568delauua,
Systematic name p.Ile189fsX24
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
efNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16965..16968
Feature           /change: -atta
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 579..582
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 189..190
Feature           /change: II -> SLPPPKPSGG LTLKSFGTHI ISLX
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              #I189X212(2); standard; MUTATION; NTERM
Accession       A0908
Systematic name g.16965_16968delATTA, c.565_568delATTA, r.565_568delauua,
Systematic name p.Ile189fsX24
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16965..16968
Feature           /change: -atta
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 579..582
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 189..190
Feature           /change: II -> SLPPPKPSGG LTLKSFGTHI ISLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #I189X212(3); standard; MUTATION; NTERM
Accession       A0909
Systematic name g.16965_16968delATTA, c.565_568delATTA, r.565_568delauua,
Systematic name p.Ile189fsX24
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16965..16968
Feature           /change: -atta
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 579..582
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 189..190
Feature           /change: II -> SLPPPKPSGG LTLKSFGTHI ISLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S193F(1); standard; MUTATION; NTERM
Accession       A0466
Systematic name g.16978C>T, c.578C>T, r.578c>u, p.Ser193Phe
Original code   VP2 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10089913
RefAuthors      Roesler, J., Heyden, S., Burdelski, M., Schafer, H., 
RefAuthors      Kreth, H. W., Lehmann, R., Paul, D., Marzahn, J., Gahr, 
RefAuthors      M., Rosen-Wolff, A.
RefTitle        Uncommon missense and splice mutations and resulting 
RefTitle        biochemical phenotypes in german patients with X-linked 
RefTitle        chronic granulomatous disease.
RefLoc          Exp Hematol 27:505-511 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16978
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 592
Feature           /codon: tcc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 193
Feature           /change: S -> F
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   0,1-4,7% (7D5)
Oxidase act.    0,53-1,8% (H2O2-prod.)
Family history  Inherited, mother carrier
//
ID              S193F(2); standard; MUTATION; NTERM
Accession       A0913
Systematic name g.16978C>T, c.578C>T, r.578c>u, p.Ser193Phe
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16978
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 592
Feature           /codon: tcc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 193
Feature           /change: S -> F
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S193P(1); standard; MUTATION; NTERM
Accession       A0627
Systematic name g.16977T>C, c.577T>C, r.577u>c, p.Ser193Pro
Original code   P3
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            22-May-2008 (Rel. 2, Created)
Date            22-May-2008 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18277931
RefAuthors      Lee, P. P., Chan, K. W., Jiang, L., Chen, T., Li, C., Lee, 
RefAuthors      T. L., Mak, P. H., Fok, S. F., Yang, X., Lau, Y. L.
RefTitle        Susceptibility to mycobacterial infections in children 
RefTitle        with X-linked chronic granulomatous disease: a review of 
RefTitle        17 patients living in a region endemic for tuberculosis.
RefLoc          Pediatr Infect Dis J:224-230 (2008)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16977
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 591
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 193
Feature           /change: S -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        Salmonella soft tissue abscess, lymphadenitis.
Sex             XY
Ethnic origin   Mongoloid
Family history  Inherited
//
ID              S193P(2); standard; MUTATION; NTERM
Accession       A0911
Systematic name g.16977T>C, c.577T>C, r.577u>c, p.Ser193Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16977
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 591
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 193
Feature           /change: S -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              S193P(3); standard; MUTATION; NTERM
Accession       A0912
Systematic name g.16977T>C, c.577T>C, r.577u>c, p.Ser193Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 16977
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 591
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 193
Feature           /change: S -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @T194+3(1); standard; MUTATION; NTERM
Accession       A0910
Systematic name g.16973_16981dup, c.573_581dup, r.573_581dup,
Systematic name p.Ser193_Thr194insThrSerSerThr
Description     A duplication mutation in the exon 6 leading to an amino
Description     acid change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 16982
Feature           /change: +ttcctccac
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe duplication
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 596
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: insertion; inframe
Feature           /loc: GenBank: NP_000388: 194
Feature           /change: T -> TSST
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @K195+2(1); standard; MUTATION; NTERM
Accession       A0914
Systematic name g.16982_16983insAAAACA, c.582_583insAAAACA,
Systematic name r.582_583insaaaaca, p.Thr194_Lys195insLysThr
Description     An inframe insertion in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0025: 16983
Feature           /change: +aaaaca
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe insertion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 597
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: insertion; inframe
Feature           /loc: GenBank: NP_000388: 195
Feature           /change: +KT
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #R198X213(1); standard; MUTATION; NTERM
Accession       A0915
Systematic name g.16992delC, c.592delC, r.592delc, p.Arg198fsX16
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16992
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 606
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 198
Feature           /change: R -> GGLTLKSFGT HIISLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #R199X213(1); standard; MUTATION; NTERM
Accession       A0320
Systematic name g.16995delA, c.595delA, r.595dela, p.Arg199fsX15
Original code   II-07 ref [1]
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 16995
Feature           /change: -a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 609
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 199
Feature           /change: R -> GLTLKSFGTH IISLX
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
//
ID              @R199X216(1); standard; MUTATION; NTERM
Accession       A0916
Systematic name g.16996_16997insGTCTTACT, c.596_597insGTCTTACT,
Systematic name r.596_597insgucuuacu, p.Phe202fsX15
Description     A frame shift insertion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0025: 16997
Feature           /change: +gtcttact
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 611
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 199
Feature           /change: R -> RSYCLTLKSF GTHIISLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              Y201X(1); standard; MUTATION; NTERM
Accession       A0917
Systematic name g.17003C>G, c.603C>G, r.603c>g, p.Tyr201X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17003
Feature           /change: c -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 617
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 201
Feature           /change: Y -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #Y201X213(1); standard; MUTATION; NTERM
Accession       A0333
Systematic name g.17003delC, c.603delC, r.603delc, p.Phe202fsX12
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17003
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 617
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 201
Feature           /change: Y -> YLKSFGTHII SLX
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              #F202X213(1); standard; MUTATION; NTERM
Accession       A0918
Systematic name g.17006_17008delinsGG, c.606_608delinsGG,
Systematic name r.606_608delinsgg, p.Phe202fsX12
Description     A frame shift indel mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0025: 17006..17008
Feature           /change: tga -> gg
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 620..622
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 202..203
Feature           /change: FE -> LESFGTHIIS LX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              E203X(1); standard; MUTATION; NTERM
Accession       A0278
Systematic name g.17007G>T, c.607G>T, r.607g>u, p.Glu203X
Original code   VIII-20 ref [1]
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
efNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17007
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 621
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 203
Feature           /change: E -> X
Feature           /domain: NTERM
Phenotype       X91 -
Heme level      Normal
Sex             XY
Ethnic origin   Caucasian (Hungarian)
//
ID              E203X(2); standard; MUTATION; NTERM
Accession       A0919
Systematic name g.17007G>T, c.607G>T, r.607g>u, p.Glu203X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17007
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 621
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 203
Feature           /change: E -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              F205I(1); standard; MUTATION; NTERM
Accession       A0060
Systematic name g.17013T>A, c.613T>A, r.613u>a, p.Phe205Ile
Original code   pat. 3 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8916969
RefAuthors      Hui, Y. F., Chan, S. Y., Lau, Y. L.
RefTitle        Identification of mutations in seven chinese patients with 
RefTitle        X-linked chronic granulomatous disease.
RefLoc          Blood 88:4021-4028 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17013
Feature           /change: t -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 627
Feature           /codon: ttt -> att; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 205
Feature           /change: F -> I
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 0
Protein level   0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Chinese
//
ID              #F205X207(1); standard; MUTATION; NTERM
Accession       A0920
Systematic name g.17014_17032delTTTGGTACACACATCATCT,
Systematic name c.614_632delTTTGGTACACACATCATCT,
Systematic name r.614_632deluuugguacacacaucaucu, p.Phe205fsX3
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17014..17032
Feature           /change: -tttggtacac acatcatct
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 628..646
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 205..211
Feature           /change: FWYTHHL -> SLX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              W206X(1); standard; MUTATION; NTERM
Accession       A0921
Systematic name g.17018G>A, c.618G>A, r.618g>a, p.Trp206X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17018
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 632
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 206
Feature           /change: W -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              Y207X(1); standard; MUTATION; NTERM
Accession       A0012
Systematic name g.17021C>A, c.621C>A, r.621c>a, p.Tyr207X
Original code   R.H. ref [1];VI-14 ref [2]
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 1520880
RefAuthors      de Boer, M., Bolscher, B. G., Dinauer, M. C., Orkin, S. 
RefAuthors      H., Smith, C. I., Ahlin, A., Weening, R. S., Roos, D.
RefTitle        Splice site mutations are a common cause of X-linked 
RefTitle        chronic granulomatous disease.
RefLoc          Blood 80:1553-1558 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17021
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 635
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 207
Feature           /change: Y -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Heme level      Strongly reduced
Oxidase act.    Strongly reduced
NBT-slide       5 %
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited, mother carrier
Comment         "Mother and sister carriers; mat. grandmother is not."
//
ID              H209Q(1); standard; MUTATION; NTERM
Accession       A0125
Systematic name g.17027T>A, c.627T>A, r.627u>a, p.His209Gln
Original code   IV-08 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17027
Feature           /change: t -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 641
Feature           /codon: cat -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> Q
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              H209Q(2); standard; MUTATION; NTERM
Accession       A0924
Systematic name g.17027T>A, c.627T>A, r.627u>a, p.His209Gln
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17027
Feature           /change: t -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 641
Feature           /codon: cat -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> Q
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              H209R(1); standard; MUTATION; NTERM
Accession       A0386
Systematic name g.17026A>G, c.626A>G, r.626a>g, p.His209Arg
Original code   91-15 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17026
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 640
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> R
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              H209R(2); standard; MUTATION; NTERM
Accession       A0923
Systematic name g.17026A>G, c.626A>G, r.626a>g, p.His209Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17026
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 640
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              H209Y(1); standard; MUTATION; NTERM
Accession       A0006
Systematic name g.17025C>T, c.625C>T, r.625c>u, p.His209Tyr
Original code   PB ref [1];VII-14 ref [2]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 1710153
RefAuthors      Bolscher, B. G., de Boer, M., de Klein, A., Weening, R. 
RefAuthors      S., Roos, D.
RefTitle        Point mutations in the beta-subunit of cytochrome b558 
RefTitle        leading to X-linked chronic granulomatous disease.
RefLoc          Blood 77:2482-2487 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17025
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 639
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> Y
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 0
Protein level   Reduced, low Mr
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited, mother is carrier
Comment         Aunt normal
//
ID              H209Y(2); standard; MUTATION; NTERM
Accession       A0387
Systematic name g.17025C>T, c.625C>T, r.625c>u, p.His209Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17025
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 639
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> Y
Feature           /domain: NTERM
//
ID              H209Y(3); standard; MUTATION; NTERM
Accession       A0388
Systematic name g.17025C>T, c.625C>T, r.625c>u, p.His209Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17025
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 639
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> Y
Feature           /domain: NTERM
//
ID              H209Y(4); standard; MUTATION; NTERM
Accession       A0389
Systematic name g.17025C>T, c.625C>T, r.625c>u, p.His209Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17025
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 639
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> Y
Feature           /domain: NTERM
Phenotype       X91 -
//
ID              H209Y(5); standard; MUTATION; NTERM
Accession       A0922
Systematic name g.17025C>T, c.625C>T, r.625c>u, p.His209Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17025
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 639
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> Y
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #H209X224(1); standard; MUTATION; NTERM
Accession       A0211
Systematic name g.17025_17026delCA, c.625_626delCA, r.625_626delca,
Systematic name p.His209fsX16
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9454688
RefAuthors      Heyworth, P. G., Curnutte, J. T., Noack, D., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease--an update.
RefLoc          Blood Cells Mol Dis 23:443-450 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 8961628
RefAuthors      Roos, D.
RefTitle        X-CGDbase: a database of X-CGD-causing mutations.
RefLoc          Immunol Today 17:517-521 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17025..17026
Feature           /change: -ca
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 639..640
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 209
Feature           /change: H -> SSLCDLLHWP CHPWSX
Feature           /domain: NTERM
Sex             XY
Ethnic origin   Caucasian (Italian)
//
ID              L211P(1); standard; MUTATION; NTERM
Accession       A0925
Systematic name g.17032T>C, c.632T>C, r.632u>c, p.Leu211Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17032
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 646
Feature           /codon: ctc -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 211
Feature           /change: L -> P
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              L211R(1); standard; MUTATION; NTERM
Accession       A0926
Systematic name g.17032T>G, c.632T>G, r.632u>g, p.Leu211Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17032
Feature           /change: t -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 646
Feature           /codon: ctc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 211
Feature           /change: L -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              @L211X226(1); standard; MUTATION; NTERM
Accession       A0597
Systematic name g.17028_17031dup, c.628_631dup, r.628_631dup, p.Leu211fsX16
Original code   Patient 2
Description     A frame shift duplication mutation in the exon 6 leading to
Description     a premature stop codon in the NTERM domain
Date            15-Mar-2007 (Rel. 2, Created)
Date            15-Mar-2007 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17089090
RefAuthors      Chollet-Martin, S., Lopez, A., Gaud, C., Henry, D., Stos, 
RefAuthors      B., El Benna, J., Chedevile, G., Gendrel, D., Gougerot-
RefAuthors      Pocidalo, M. A., Grandchamp, B., Gerard, B.
RefTitle        Severe X-linked chronic granulomatous disease in two 
RefTitle        unrelated females.
RefLoc          Eur J Pediatr:153-159 (2007)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0025: 17032
Feature           /change: +catc
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025: 646
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 211
Feature           /change: L -> PSLCDLLHWP CHPWSX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Symptoms        folliculitis, BGC vaccination caused inflammation lasting
Symptoms        for 1 year, two large liver abscesses, large skin abscesses
Age             9
Sex             XX
Ethnic origin   Caucasoid; Island of Reunion
Family history  De novo
//
ID              #F212X213(1); standard; MUTATION; NTERM
Accession       A0927
Systematic name g.17036delT, c.636delT, r.636delu, p.Phe212fsX2
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17036
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 650
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 212
Feature           /change: F -> LX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #F212X213(2); standard; MUTATION; NTERM
Accession       A0928
Systematic name g.17036delT, c.636delT, r.636delu, p.Phe212fsX2
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17036
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 650
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 212
Feature           /change: F -> LX
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              #F216-1(1); standard; MUTATION; NTERM
Accession       A0010
Systematic name g.17046_17048delTTC, c.646_648delTTC, r.646_648deluuc,
Systematic name p.Phe216del
Original code   CG ref [1];IV-19 ref [2]
Description     An inframe deletion in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8070813
RefAuthors      Roos, D.
RefTitle        The genetic basis of chronic granulomatous disease.
RefLoc          Immunol Rev 138:121-157 (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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17046..17048
Feature           /change: -ttc
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 660..662
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: GenBank: NP_000388: 216
Feature           /change: -F
Feature           /domain: NTERM
Phenotype       X91 -
Protein level   0
Heme level      0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (Netherlands)
Family history  Inherited
Comment         Twin sister is carrier
//
ID              #F216-1(2); standard; MUTATION; NTERM
Accession       A0058
Systematic name g.17046_17048delTTC, c.646_648delTTC, r.646_648deluuc,
Systematic name p.Phe216del
Original code   pat. 2 ref [1]
Description     An inframe deletion in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8916969
RefAuthors      Hui, Y. F., Chan, S. Y., Lau, Y. L.
RefTitle        Identification of mutations in seven chinese patients with 
RefTitle        X-linked chronic granulomatous disease.
RefLoc          Blood 88:4021-4028 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17046..17048
Feature           /change: -ttc
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 660..662
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: GenBank: NP_000388: 216
Feature           /change: -F
Feature           /domain: NTERM
mRNA level      Normal
Phenotype       X91 0
Protein level   0
NBT-slide       0
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Chinese
Family history  Inherited, mother is carrier
//
ID              #F216-1(3); standard; MUTATION; NTERM
Accession       A0085
Systematic name g.17046_17048delTTC, c.646_648delTTC, r.646_648deluuc,
Systematic name p.Phe216del
Original code   "IV-20" ref [1]
Description     An inframe deletion in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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       [2]
RefCrossRef     PUBMED; 9111587
RefAuthors      Jendrossek, V., Ritzel, A., Neubauer, B., Heyden, S., 
RefAuthors      Gahr, M.
RefTitle        An in-frame triplet deletion within the gp91-phox gene in 
RefTitle        an adult X-linked chronic granulomatous disease patient 
RefTitle        with residual NADPH-oxidase activity.
RefLoc          Eur J Haematol 58:78-85 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0025: 17046..17048
Feature           /change: -ttc
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 660..662
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: GenBank: NP_000388: 216
Feature           /change: -F
Feature           /domain: NTERM
Phenotype       X91 -
Oxidase act.    5 %
NBT-slide       80% weakly positive
Symptoms        Classical CGD
Sex             XY
Ethnic origin   Caucasian (German)
Family history  Inherited, mother is carrier
//
ID              H222L(1); standard; MUTATION; NTERM
Accession       A0931
Systematic name g.17065A>T, c.665A>T, r.665a>u, p.His222Leu
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17065
Feature           /change: a -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 679
Feature           /codon: cat -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> L
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              H222N(1); standard; MUTATION; NTERM
Accession       A0390
Systematic name g.17064C>A, c.664C>A, r.664c>a, p.His222Asn
Original code   IV-09 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17064
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 678
Feature           /codon: cat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> N
Feature           /domain: NTERM
//
ID              H222R(1); standard; MUTATION; NTERM
Accession       A0250
Systematic name g.17065A>G, c.665A>G, r.665a>g, p.His222Arg
Original code   VII-15 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17065
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 679
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> R
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              H222R(2); standard; MUTATION; NTERM
Accession       A0391
Systematic name g.17065A>G, c.665A>G, r.665a>g, p.His222Arg
Original code   IV-11 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17065
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 679
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> R
Feature           /domain: NTERM
//
ID              H222R(3); standard; MUTATION; NTERM
Accession       A0392
Systematic name g.17065A>G, c.665A>G, r.665a>g, p.His222Arg
Original code   CP1 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10089913
RefAuthors      Roesler, J., Heyden, S., Burdelski, M., Schafer, H., 
RefAuthors      Kreth, H. W., Lehmann, R., Paul, D., Marzahn, J., Gahr, 
RefAuthors      M., Rosen-Wolff, A.
RefTitle        Uncommon missense and splice mutations and resulting 
RefTitle        biochemical phenotypes in german patients with X-linked 
RefTitle        chronic granulomatous disease.
RefLoc          Exp Hematol 27:505-511 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17065
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 679
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> R
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0% (7D5)
Oxidase act.    0% (H2O2-prod.)
Family history  Inherited, mother is carrier
//
ID              H222R(4); standard; MUTATION; NTERM
Accession       A0393
Systematic name g.17065A>G, c.665A>G, r.665a>g, p.His222Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17065
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 679
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> R
Feature           /domain: NTERM
Sex             XY
//
ID              H222R(5); standard; MUTATION; NTERM
Accession       A0929
Systematic name g.17065A>G, c.665A>G, r.665a>g, p.His222Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17065
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 679
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              H222R(6); standard; MUTATION; NTERM
Accession       A0930
Systematic name g.17065A>G, c.665A>G, r.665a>g, p.His222Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17065
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 679
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> R
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              H222Y(1); standard; MUTATION; NTERM
Accession       A0394
Systematic name g.17064C>T, c.664C>T, r.664c>u, p.His222Tyr
Original code   IV-10 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17064
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 678
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 222
Feature           /change: H -> Y
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
//
ID              &G223(1); standard; MUTATION; NTERM
Accession       A0109
Systematic name g.17067_17068delinsTT, c.667_668delinsTT,
Systematic name r.667_668delinsuu, p.Gly223Leu
Original code   IV-12 ref [1]
Description     A complex mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: complex
Feature           /loc: IDRefSeq: D0025: 17067..17068
Feature           /change: gg -> tt
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 681..682
Feature           /codon: gga -> tta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 223
Feature           /change: G -> L
Feature           /domain: NTERM
Symptoms        Mild CGD
Sex             XY
//
ID              G223X(1); standard; MUTATION; NTERM
Accession       A0932
Systematic name g.17067G>T, c.667G>T, r.667g>u, p.Gly223X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17067
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 681
Feature           /codon: gga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 223
Feature           /change: G -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              A224G(1); standard; MUTATION; NTERM
Accession       A0351
Systematic name g.17071C>G, c.671C>G, r.671c>g, p.Ala224Gly
Original code   91-16 ref [1]
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17071
Feature           /change: c -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 685
Feature           /codon: gct -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 224
Feature           /change: A -> G
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              E225V(1); standard; MUTATION; NTERM
Accession       A0933
Systematic name g.17074A>T, c.674A>T, r.674a>u, p.Glu225Val
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17074
Feature           /change: a -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 688
Feature           /codon: gaa -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 225
Feature           /change: E -> V
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              E225V(2); standard; MUTATION; NTERM
Accession       A0934
Systematic name g.17074A>T, c.674A>T, r.674a>u, p.Glu225Val
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the NTERM domain
Date            31-Aug-2010 (Rel. 2, Created)
Date            31-Aug-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 17074
Feature           /change: a -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 688
Feature           /codon: gaa -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: GenBank: NP_000388: 225
Feature           /change: E -> V
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
//
ID              R226X(1); standard; MUTATION; NTERM
Accession       A0132
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   III-13 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
Symptoms        Classical CGD
Sex             XY
//
ID              R226X(2); standard; MUTATION; NTERM
Accession       A0150
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   III-14 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Symptoms        Classical CGD
Sex             XY
//
ID              R226X(3a); standard; MUTATION; NTERM
Accession       A0279
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   VIII-22 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
Ethnic origin   Caucasian (Polish)
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0280 brother
Comment         Sister Ewa carrier, father normal
//
ID              R226X(3b); standard; MUTATION; NTERM
Accession       A0280
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   VIII-22 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
Ethnic origin   Caucasian (Polish)
Family history  Inherited, mother is carrier
Relative        CYBBbase; A0279 brother
Comment         Sister Ewa carrier, father normal
//
ID              R226X(4); standard; MUTATION; NTERM
Accession       A0281
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   VIII-23 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Protein level   0
Oxidase act.    0
NBT-slide       0
Sex             XY
Ethnic origin   Caucasian (French)
Family history  Inherited, mother is carrier
//
ID              R226X(5); standard; MUTATION; NTERM
Accession       A0282
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   VIII-24 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
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)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
//
ID              R226X(6); standard; MUTATION; NTERM
Accession       A0283
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Inherited, mother is carrier
//
ID              R226X(7); standard; MUTATION; NTERM
Accession       A0284
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Ethnic origin   Caucasian (Dutch)
Family history  Inherited, mother is carrier
Comment         Maternal aunt is carrier
//
ID              R226X(8); standard; MUTATION; NTERM
Accession       A0435
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   III-15 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9585602
RefAuthors      Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., 
RefAuthors      Hopkins, P. J., Kuruto, R., Curnutte, J. T.
RefTitle        X-linked chronic granulomatous disease: mutations in the 
RefTitle        CYBB gene encoding the gp91-phox component of respiratory-
RefTitle        burst oxidase.
RefLoc          Am J Hum Genet 62:1320-1331 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R226X(9); standard; MUTATION; NTERM
Accession       A0436
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R226X(10); standard; MUTATION; NTERM
Accession       A0437
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R226X(11); standard; MUTATION; NTERM
Accession       A0438
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
Sex             XY
Family history  Both parents normal
Comment         Parents are normal
//
ID              R226X(12); standard; MUTATION; NTERM
Accession       A0439
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   91-17 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R226X(13); standard; MUTATION; NTERM
Accession       A0440
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   91-18 ref [1]
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-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 106:473-481 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R226X(14); standard; MUTATION; NTERM
Accession       A0441
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11462241
RefAuthors      Gerard, B., El Benna, J., Alcain, F., Gougerot-Pocidalo, 
RefAuthors      M. A., Grandchamp, B., Chollet-Martin, S.
RefTitle        Characterization of 11 novel mutations in the X-linked 
RefTitle        chronic granulomatous disease (CYBB gene).
RefLoc          Hum Mutat 18:163 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Sex             XY
//
ID              R226X(15); standard; MUTATION; NTERM
Accession       A0442
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            26-Jul-2002 (Rel. 2, Created)
Date            11-Aug-2010 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11162142
RefAuthors      Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., 
RefAuthors      Roos, D., van Koppen, E., Cross, A. R.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (second update).
RefLoc          Blood Cells Mol Dis 27:16-26 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 0
//
ID              R226X(16); standard; MUTATION; NTERM
Accession       A0588
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Original code   10. M.M.
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            03-Nov-2006 (Rel. 2, Created)
Date            03-Nov-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16569599
RefAuthors      von Goessel, H., Hossle, J. P., Seger, R., Gungor, T.
RefTitle        Characterization of 17 new cases of X-linked chronic 
RefTitle        granulomatous disease with seven novel mutations in the 
RefTitle        CYBB gene.
RefLoc          Exp Hematol:528-535 (2006)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Phenotype       X91 ?
Diagnosis       Classical X-linked CGD
Symptoms        Recurrent lymphadenitis, recurrent pyodermatitis
Age             8 mo
Family history  Unknown
//
ID              R226X(17a); standard; MUTATION; NTERM
Accession       A0957
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0958
//
ID              R226X(17b); standard; MUTATION; NTERM
Accession       A0958
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0957
//
ID              R226X(18a); standard; MUTATION; NTERM
Accession       A0959
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0960
//
ID              R226X(18b); standard; MUTATION; NTERM
Accession       A0960
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0959
//
ID              R226X(19a); standard; MUTATION; NTERM
Accession       A0961
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0962
//
ID              R226X(19b); standard; MUTATION; NTERM
Accession       A0962
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0961
//
ID              R226X(20a); standard; MUTATION; NTERM
Accession       A0963
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0964
//
ID              R226X(20b); standard; MUTATION; NTERM
Accession       A0964
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0963
//
ID              R226X(21a); standard; MUTATION; NTERM
Accession       A0965
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0966
//
ID              R226X(21b); standard; MUTATION; NTERM
Accession       A0966
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondratenko, I., van Leeuwen, K., Malech, H. L., Marodi, 
RefAuthors      L., Nunoi, H., Stasia, M. J., Ventura, A. M., Witwer, C. 
RefAuthors      T., Wolach, B., Gallin, J. I.
RefTitle        Hematologically important mutations: X-linked chronic 
RefTitle        granulomatous disease (third update).
RefLoc          Blood Cells Mol Dis:h (2010)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0025: 19889
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0025; GI:6996021; CYBBC: 690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: GenBank: NP_000388: 226
Feature           /change: R -> X
Feature           /domain: NTERM
Diagnosis       Classical X-linked CGD
Relative        CYBBbase; A0965
//
ID              R226X(22); standard; MUTATION; NTERM
Accession       A0967
Systematic name g.19889C>T, c.676C>T, r.676c>u, p.Arg226X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the NTERM domain
Date            02-Sep-2010 (Rel. 2, Created)
Date            02-Sep-2010 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20729109
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Roesler, J., Lopez, 
RefAuthors      J. A., Ariga, T., Avcin, T., de Boer, M., Bustamante, J., 
RefAuthors      Condino-Neto, A., Di Matteo, G., He, J., Hill, H. R., 
RefAuthors      Holland, S. M., Kannengiesser, C., Koker, M. Y., 
RefAuthors      Kondrat