Database NCF2base
Version 1.2
File ncf2pub.txt
Date 23-Oct-2015
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/NCF2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF41.html
Gene NCF2
Disease autosomal recessive chronic granulomatous disease(CGD),
Disease deficiency of p67 phox
OMIM 233710
GDB 120223
Sequence EMBL:U00776; EMBL:U00777; EMBL:U00778; EMBL:U00779;
Sequence EMBL:U00780; EMBL:U00781; EMBL:U00782; EMBL:U00783;
Sequence EMBL:U00784; EMBL:U00785; EMBL:U00786; EMBL:U00787;
Sequence EMBL:U00788; EMBL:M32011; SWISSPROT:P19878
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #K19-3/R395W(1),Intron 4(1); standard; MUTATION;?/OPR,
Accession M0004
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC;28280C>T],
Systematic name c.[55_63delAAGAAGGAC;1183C>T],
Systematic name r.[55_63delaagaaggac;1183c>u],
Systematic name p.[Lys19_Trp22del;Arg395Trp]
Systematic name Allele 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Original code NS
Description Allele 1: An inframe deletion in the exon 1 leading to
Description an amino acid change and a point mutation in the exon
Description 13 leading to an amino acid change in the OPR domain
Description Allele 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 29-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10498624
RefAuthors Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J.,
RefAuthors de Olarte, D. G., Curnutte, J. T.
RefTitle Molecular characterization of autosomal recessive chronic
RefTitle granulomatous disease caused by a defect of the
RefTitle nicotinamide adenine dinucleotide phosphate (reduced form)
RefTitle oxidase component p67-phox.
RefLoc Blood 94:2505-2514 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 1307..1315
Feature /change: -aagaaggac
Feature /genomic_region: exon; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28280
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature /codon: cgg -> tgg; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 19..21
Feature /change: -KKD
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 395
Feature /change: R -> W
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 8
Feature /name: unknown
Phenotype A67 0
Sex XX
Symptoms severe
Cell tests Western blot;
//
ID #K19-3/R395W(2),R66X(1); standard; MUTATION; ?/OPR,
Accession M0015
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC; g.28280C>T],
Systematic name c.[55_63delAAGAAGGAC; c.1183C>T],
Systematic name r.[55_63delaagaaggac; r.1183c>u],
Systematic name p.[Lys19_Trp22del; p.Arg395Trp]
Systematic name Allele 2: g.4626C>T, c.196C>T, r.196c>u, p.Arg66X
Original code Patient 2
Description Allele 1: An inframe deletion in the exon 1 leading to an
Description inframe deletion of 3 amino acids, and a point mutation in
Description the exon 13 leading to amino acid change in the OPR domain
Description Allele 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 15-Nov-2006 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598813
RefAuthors Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S.,
RefAuthors Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P.
RefAuthors G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by novel mutations in NCF-2, the gene encoding the p67-
RefTitle phox component of phagocyte NADPH oxidase.
RefLoc Hum Genet 105:460-467 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 1307..1315
Feature /change: -aagaaggac
Feature /genomic_region: exon; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28280
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature /codon: cgg -> tgg; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 19..21
Feature /change: -KKD
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 395
Feature /change: R -> W
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4626
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature /codon: cga -> tga; 1
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 66
Feature /change: R -> X
Phenotype A67 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Hispanic
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0015
//
ID #K19-3/R395W(3),Intron 3(3); standard; MUTATION; ?/OPR,
Accession M0021
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC; 28280C>T],
Systematic name c.[55_63delAAGAAGGAC; 1183C>T],
Systematic name r.[55_63delaagaaggac; 1183c>u],
Systematic name p.[Lys19_Trp22del; Arg395Trp]
Systematic name Allele 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code P.1
Description Allele 1: An inframe deletion in the exon 1 leading
Description to an amino acid change and a point mutation in the
Description exon 13 leading to an amino acid change in the OPR domain
Description Allele 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 1307..1315
Feature /change: -aagaaggac
Feature /genomic_region: exon; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28280
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature /codon: cgg -> tgg; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 19..21
Feature /change: -KKD
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 395
Feature /change: R -> W
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 8
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Age 1.5
Symptoms Aspergillus osteomyelitis of chest wall;
//
ID #K19-3/R395W(4),Intron 4(7); standard; MUTATION; ?/OPR,
Accession M0084
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC; 28280C>T],
Systematic name c.[55_63delAAGAAGGAC; 1183C>T],
Systematic name r.[55_63delaagaaggac; 1183c>u],
Systematic name p.[Lys19_Trp22del; Arg395Trp]
Systematic name Allele 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Original code P.1
Description Allele 1: An inframe deletion in the exon 1 leading
Description to an amino acid change and a point mutation in the
Description exon 13 leading to an amino acid change in the OPR domain
Description Allele 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 1307..1315
Feature /change: -aagaaggac
Feature /genomic_region: exon; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28280
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature /codon: cgg -> tgg; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 19..21
Feature /change: -KKD
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 395
Feature /change: R -> W
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 8
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID M1V(1),#M163X168(1); standard; MUTATION;
Accession M0092
Systematic name Allele 1: g.1253A>G, c.1A>G, r.1a>g, p.Met1Val
Systematic name Allele 2: g.17082_17095delTGGAGTGTGTCTGG,
Systematic name c.488_501delTGGAGTGTGTCTGG, r.488_501deluggagugugucugg,
Systematic name p.Met163fsX6
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 4
Description leading to a premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1253
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 253
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 1
Feature /change: M -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 17082..17095
Feature /change: -tggagtgtgt ctgg
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 740..753
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 163..167
Feature /change: MECVW -> KAEAIX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID W10X(1),W10X(1); standard; MUTATION;
Accession M0091
Systematic name Allele 1 and 2: g.1281G>A, c.29G>A, r.29g>a, p.Trp10X
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1281
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 281
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 10
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1281
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 281
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 10
Feature /change: W -> X
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID N42S(1),N42S(1); standard; MUTATION;
Accession M0086
Systematic name Allele 1 and 2: g.1377A>G, c.125A>G, r.125a>g, p.Asn42Ser
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1377
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 377
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 42
Feature /change: N -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1377
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 377
Feature /codon: aac -> agc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 42
Feature /change: N -> S
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID G44C(1),G44C(1); standard; MUTATION;
Accession M0093
Systematic name Allele 1 and 2: g.1382G>T, c.130G>T, r.130g>u, p.Gly44Cys
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1382
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature /codon: ggc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 44
Feature /change: G -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1382
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature /codon: ggc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 44
Feature /change: G -> C
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID G44R(1),G44R(1); standard; MUTATION;
Accession M0023
Systematic name Allele 1 and 2: g.1382G>C, c.130G>C, r.130g>c, p.Gly44Arg
Original code P4
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1382
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature /codon: ggc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 44
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1382
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature /codon: ggc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 44
Feature /change: G -> R
Diagnosis Classical chronic granulomatous disease
Age 2
Symptoms Meningitis; Skin abscesses;
//
ID G44R(2),G44R(2); standard; MUTATION;
Accession M0074
Systematic name Allele 1 and 2: g.1382G>C, c.130G>C, r.130g>c, p.Gly44Arg
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11112388
RefAuthors Cross, A. R., Noack, D., Rae, J., Curnutte, J. T.,
RefAuthors Heyworth, P. G.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (first
RefTitle update).
RefLoc Blood Cells Mol Dis:561-565 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1382
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature /codon: ggc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 44
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1382
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature /codon: ggc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 44
Feature /change: G -> R
Diagnosis Classical chronic granulomatous disease
//
ID M53K(1),M53K(1); standard; MUTATION;
Accession M0113
Systematic name Allele 1 and 2: g.1410T>A, c.158T>A, r.158u>a, p.Met53Lys
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 29-Oct-2012 (Rel. 1, Created)
Date 29-Oct-2012 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (29-Oct-2012) to NCF2base.
RefLoc Mustafa Yavuz Köker; Departments of Immunology, BMT
RefLoc centre, University of Erciyes; Tel +905053478838; Fax
RefLoc +903522249327; e-mail kokabdul@hotmail.com
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1410
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 410
Feature /codon: atg -> aag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 53
Feature /change: M -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1410
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 410
Feature /codon: atg -> aag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 53
Feature /change: M -> K
mRNA level Absent
Protein level Absent
Activity Inactive
Protein struct 137X
Diagnosis Classical chronic granulomatous disease
Age 5
Sex XY
Ethnic origin Caucasoid; Turkey
Family history Inherited
Relative Description of pedigree (please, provide)
Relative consanquineus family
Cell tests DHR; Western blot;
//
ID M53T(1),M53T(1); standard; MUTATION;
Accession M0118
Systematic name Allele 1 and 2: g.1410T>C, c.158T>C, r.158u>c, p.Met53Thr
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 07-Nov-2013 (Rel. 1, Created)
Date 07-Nov-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Nov-2013) to NCF2base.
RefLoc Mustafa Yavuz Köker; Department of Immunology, University
RefLoc of Erciyes; Tel +905053478838; Fax +903522249327; e-mail
RefLoc mykoker@erciyes.edu.tr
RefNumber [1]
RefCrossRef PUBMED; 23910690
RefAuthors Köker, M. Y., Camcıoğlu, Y., van Leeuwen, K., Kılıç, S.
RefAuthors Ş., Barlan, I., Yılmaz, M., Metin, A., de Boer, M.,
RefAuthors Avcılar, H., Patıroğlu, T., Yıldıran, A., Yeğin, O.,
RefAuthors Tezcan, I., Sanal, O., Roos, D.
RefTitle Clinical, functional, and genetic characterization of
RefTitle chronic granulomatous disease in 89 turkish patients.
RefLoc J Allergy Clin Immunol:1156-1163.e5 (2013)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1410
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 410
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 53
Feature /change: M -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1410
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 410
Feature /codon: atg -> acg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 53
Feature /change: M -> T
mRNA level Absent
Protein level Absent
Activity Inactive
Protein struct Trp137X
Diagnosis Classical chronic granulomatous disease
Age 5
Sex xy
Ethnic origin Caucasoid; Turkey
Family history Inherited
//
ID M53T(2),M53T(2); standard; MUTATION;
Accession M0119
Systematic name Allele 1 and 2: g.1410T>C, c.158T>C, r.158u>c, p.Met53Thr
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 07-Nov-2013 (Rel. 1, Created)
Date 07-Nov-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Nov-2013) to NCF2base.
RefLoc Mustafa Yavuz Köker; Department of Immunology, University
RefLoc of Erciyes; Tel +905053478838; Fax +903522249327; e-mail
RefLoc mykoker@erciyes.edu.tr
RefNumber [1]
RefCrossRef PUBMED; 23910690
RefAuthors Köker, M. Y., Camcıoğlu, Y., van Leeuwen, K., Kılıç, S.
RefAuthors Ş., Barlan, I., Yılmaz, M., Metin, A., de Boer, M.,
RefAuthors Avcılar, H., Patıroğlu, T., Yıldıran, A., Yeğin, O.,
RefAuthors Tezcan, I., Sanal, O., Roos, D.
RefTitle Clinical, functional, and genetic characterization of
RefTitle chronic granulomatous disease in 89 turkish patients.
RefLoc J Allergy Clin Immunol:1156-1163.e5 (2013)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1410
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 410
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 53
Feature /change: M -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 1410
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 410
Feature /codon: atg -> acg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 53
Feature /change: M -> T
mRNA level Absent
Protein level Absent
Activity Inactive
Protein struct Trp137X
Diagnosis Classical chronic granulomatous disease
Age 1
Sex xy
Ethnic origin Caucasoid; Turkey
Family history Inherited
Symptoms perianal abcess
Cell tests DHR; SI: 1.3 , flow cytometry
Treatment Prophylaxis; Drainage;
//
ID #K58-1(1),Deletion(1); standard; MUTATION;
Accession M0009
Systematic name Allele 1: g.1424_1426delAAG, c.172_174delAAG,
Systematic name r.172_174delaag, p.Lys58del
Original code G.
Description Allele 1: An inframe deletion in the exon 1 leading
Description to an amino acid change
Description Allele 2: Large undefined deletion
Date 29-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8879195
RefAuthors Leusen, J.H., de Klein, A., Hilarius, P.M., Ahlin, A.,
RefAuthors Palmblad, J., Smith, C.I., Diekmann, D., Hall, A.,
RefAuthors Verhoeven, A.J., Roos, D.
RefTitle Disturbed interaction of p21-rac with mutated p67-phox
RefTitle causes chronic granulomatous disease
RefLoc J. Exp. Med. 184:1243-1249 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 1424..1426
Feature /change: -aag
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 424..426
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 58
Feature /change: -K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: 11-13 kb deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A67
Symptoms severe
Sex XX
Ethnic origin South American
Symptoms Synovitis; Lobar pneumonia; Abscess in parotid gland;
Symptoms Sterile pyuria; Osteitis;
//
ID #K58-1(2),#K58-1(2); standard; MUTATION;
Accession M0094
Systematic name Allele 1 and 2: g.1424_1426delAAG, c.172_174delAAG,
Systematic name r.172_174delaag, p.Lys58del
Description Allele 1 and 2: An inframe deletion in the exon 1 leading
Description to an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 1424..1426
Feature /change: -aag
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 424..426
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 58
Feature /change: -K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 1424..1426
Feature /change: -aag
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 424..426
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 58
Feature /change: -K
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R66X(2),R66X(2); standard; MUTATION;
Accession M0053
Systematic name Allele 1 and 2: g.4626C>T, c.196C>T, r.196c>u, p.Arg66X
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4626
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 66
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4626
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 66
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R66X(3),R66X(3); standard; MUTATION;
Accession M0054
Systematic name Allele 1 and 2: g.4626C>T, c.196C>T, r.196c>u, p.Arg66X
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4626
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 66
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4626
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 66
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
//
ID R77Q(1),Q100X(1); standard; MUTATION;
Accession M0016
Systematic name Allele 1: g.4660G>A, c.230G>A, r.230g>a, p.Arg77Gln
Systematic name Allele 2: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Original code Patient 3
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 15-Nov-2006 (Rel. 1, Created)
Date 15-Nov-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598813
RefAuthors Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S.,
RefAuthors Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P.
RefAuthors G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by novel mutations in NCF-2, the gene encoding the p67-
RefTitle phox component of phagocyte NADPH oxidase.
RefLoc Hum Genet 105:460-467 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4660
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 482
Feature /codon: cga -> caa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13915
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 100
Feature /change: Q -> X
Phenotype A67 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Caucasoid; European
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0016
//
ID R77Q(2),Q100X(4); standard; MUTATION;
Accession M0089
Systematic name Allele 1: g.4660G>A, c.230G>A, r.230g>a, p.Arg77Gln
Systematic name Allele 2: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4660
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 482
Feature /codon: cga -> caa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13915
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 100
Feature /change: Q -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R77Q(3),Q100X(5); standard; MUTATION;
Accession M0096
Systematic name Allele 1: g.4660G>A, c.230G>A, r.230g>a, p.Arg77Gln
Systematic name Allele 2: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4660
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 482
Feature /codon: cga -> caa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13915
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 100
Feature /change: Q -> X
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R77X(1),R77X(1); standard; MUTATION;
Accession M0029
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Original code P.1
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19624736
RefAuthors Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M.,
RefAuthors Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I.,
RefAuthors Roos, D.
RefTitle Four different NCF2 mutations in six families from turkey
RefTitle and an overview of NCF2 gene mutations.
RefLoc Eur J Clin Invest:942-951 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Age 1
Sex XY
Symptoms Left inguinal lymphadenopathy; Hepatosplenomegaly;
Treatment Itraconazole; Cotrimoxazole;
Comment Patient died at age 14 years.
//
ID R77X(2a),R77X(2a); standard; MUTATION;
Accession M0040
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF2base; M0041
//
ID R77X(2b),R77X(2b); standard; MUTATION;
Accession M0041
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF2base; M0040
//
ID R77X(3),R77X(3); standard; MUTATION;
Accession M0067
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R77X(4),R77X(4); standard; MUTATION;
Accession M0078
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R77X(5),@K345X381(1); standard; MUTATION;
Accession M0095
Systematic name Allele 1: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Systematic name Allele 2: g.28004dupA, c.1034dupA, r.1034dupa,
Systematic name p.Leu346fsX36
Description Allele 1: A point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: A frame shift duplication mutation in the exon 12
Description leading to a premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4659
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 77
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0100: 28005
Feature /change: +a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1287
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 345
Feature /change: K -> KAQCSHALHT QGALQVHGSH EDSARAPLQP GPGHGVX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID G78E(1),G78E(1); standard; MUTATION;
Accession M0002
Systematic name Allele 1 and 2: g.4663G>A, c.233G>A, r.233g>a, p.Gly78Glu
Original code k.
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 28-Sep-1999 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8286749
RefAuthors de Boer, M., Hilarius-Stokman, P.M., Hossle, J.P.,
RefAuthors Verhoeven, A.J., Graf, N., Kenney, R.T., Seger, R., Roos,
RefAuthors D.
RefTitle Autosomal recessive chronic granulomatous disease with
RefTitle absence of the 67-kD cytosolic NADPH oxidase component:
RefTitle identification of mutation and detection of carriers
RefLoc Blood 83:531-536 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4663
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 485
Feature /codon: ggg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P19878; NCF2_HUMAN: 78
Feature /change: G -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4663
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 485
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P19878; NCF2_HUMAN: 78
Feature /change: G -> E
Phenotype A67 0
Symptoms severe
Sex XX
//
ID D93E(1),D93E(1); standard; MUTATION;
Accession M0030
Systematic name Allele 1 and 2: g.13896C>G, c.279C>G, r.279c>g, p.Asp93Glu
Original code P.2
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19624736
RefAuthors Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M.,
RefAuthors Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos,
RefAuthors D.
RefTitle Four different NCF2 mutations in six families from turkey
RefTitle and an overview of NCF2 gene mutations.
RefLoc Eur J Clin Invest:942-951 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Diagnosis Classical chronic granulomatous disease
Age 4
Sex XX
Symptoms Pneumonia; Liver abscesses;
Treatment Itraconazole; Cotrimoxazole;
Comment Patient's elder brother died of Aspergillus pneumonia at
Comment age 4 years.
//
ID D93E(2),D93E(2); standard; MUTATION;
Accession M0031
Systematic name Allele 1 and 2: g.13896C>G, c.279C>G, r.279c>g, p.Asp93Glu
Original code P.3
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19624736
RefAuthors Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M.,
RefAuthors Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos,
RefAuthors D.
RefTitle Four different NCF2 mutations in six families from turkey
RefTitle and an overview of NCF2 gene mutations.
RefLoc Eur J Clin Invest:942-951 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Diagnosis Classical chronic granulomatous disease
Age 2
Sex XX
Symptoms Hip abscess; Sepsis; Osteomyelitis;
Treatment Itraconazole; Cotrimoxazole;
//
ID D93E(3),D93E(3); standard; MUTATION;
Accession M0032
Systematic name Allele 1 and 2: g.13896C>G, c.279C>G, r.279c>g, p.Asp93Glu
Original code P.4
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19624736
RefAuthors Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M.,
RefAuthors Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos,
RefAuthors D.
RefTitle Four different NCF2 mutations in six families from turkey
RefTitle and an overview of NCF2 gene mutations.
RefLoc Eur J Clin Invest:942-951 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Diagnosis Classical chronic granulomatous disease
Age 3
Sex XX
Symptoms Pneumonia; Inguinal abscesses;
Treatment Itraconazole; Cotrimoxazole;
//
ID D93E/Intron 4(1),D93E/Intron 4(1); standard; MUTATION;
Accession M0047
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change and a point mutation in the intron 4
Description leading to aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 12
Feature /rnalink: 10
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID D93E/Intron 4(2),D93E/Intron 4(2); standard; MUTATION;
Accession M0048
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change and a point mutation in the intron 4
Description leading to aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 12
Feature /rnalink: 10
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID D93E/Intron 4(3),D93E/Intron 4(3); standard; MUTATION;
Accession M0049
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change and a point mutation in the intron 4
Description leading to aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 12
Feature /rnalink: 10
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID D93E/Intron 4(4),D93E/Intron 4(4); standard; MUTATION;
Accession M0050
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change and a point mutation in the intron 4
Description leading to aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13896
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature /codon: gac -> gag; 3
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 93
Feature /change: D -> E
Feature aa; 12
Feature /rnalink: 10
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #E96-1(1),#E96-1(1); standard; MUTATION;
Accession M0097
Systematic name Allele 1 and 2: g.13904_13906delAAG, c.287_289delAAG,
Systematic name r.287_289delaag, p.Glu96del
Description Allele 1 and 2: An inframe deletion in the exon 3 leading
Description to an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 13904..13906
Feature /change: -aag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 539..541
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 96..97
Feature /change: EA -> A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 13904..13906
Feature /change: -aag
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 539..541
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 96..97
Feature /change: EA -> A
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Q100X(2),A140V(1); standard; MUTATION;
Accession M0045
Systematic name Allele 1: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Systematic name Allele 2: g.17013C>T, c.419C>T, r.419c>u, p.Ala140Val
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the exon 4 leading to an
Description amino acid change
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13915
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 100
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17013
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 671
Feature /codon: gct -> gtt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 140
Feature /change: A -> V
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Q100X(3),Intron 8(1); standard; MUTATION;
Accession M0046
Systematic name Allele 1: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Systematic name Allele 2: g.24593G>T, c.856-1G>T, r.856-1g>u
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 8 leading to
Description aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13915
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 100
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 24593
Feature /change: g -> t
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Q100X(6),Q100X(6); standard; MUTATION;
Accession M0122
Systematic name Allele 1 and 2: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Original code IS
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 06-Oct-2015 (Rel. 1, Created)
Date 06-Oct-2015 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (06-Oct-2015) to NCF2base.
RefLoc Antonio Ferreira; immunology Unit-Hospital
RefLoc Materno-Infantil-Hospital La Paz-Castellana 361-28046
RefLoc Madrid-Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13915
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 100
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13915
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 100
Feature /change: Q -> X
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Sex male
Ethnic origin Morocco
Family history Inherited
Cell tests NBT test; DHR; Superoxide; cytometry
Treatment Prophylaxis; TPH
//
ID R102P(1),K342K(2); standard; MUTATION;
Accession M0099
Systematic name Allele 1: g.13922G>C, c.305G>C, r.305g>c, p.Arg102Pro
Systematic name Allele 2: g.27577G>A, c.1026G>A, r.1026g>a, p.Lys342Lys
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 11 leading to an
Description amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13922
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 557
Feature /codon: cga -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 27577
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1278
Feature /codon: aag -> aaa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 342
Feature /change: K -> K
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R102X(1),R102X(1); standard; MUTATION;
Accession M0001
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code LC
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 28-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 10498624
RefAuthors Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J.,
RefAuthors de Olarte, D. G., Curnutte, J. T.
RefTitle Molecular characterization of autosomal recessive chronic
RefTitle granulomatous disease caused by a defect of the
RefTitle nicotinamide adenine dinucleotide phosphate (reduced form)
RefTitle oxidase component p67-phox.
RefLoc Blood 94:2505-2514 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Phenotype A67 0
Sex XX
Symptoms severe
Cell tests Western blot;
//
ID R102X(2a),R102X(2a); standard; MUTATION;
Accession M0035
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code P.20
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18708296
RefAuthors Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G.,
RefAuthors Etzioni, A., Roos, D.
RefTitle Chronic granulomatous disease in israel: clinical,
RefTitle functional and molecular studies of 38 patients.
RefLoc Clin Immunol:103-114 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Age 3 mo
Sex XY
Ethnic origin Arabic
Relative NCF2base; M0036 brother
Relative NCF2base; M0037 cousin
Relative NCF2base; M0038 cousin
//
ID R102X(2b),R102X(2b); standard; MUTATION;
Accession M0036
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code P.21
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18708296
RefAuthors Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G.,
RefAuthors Etzioni, A., Roos, D.
RefTitle Chronic granulomatous disease in israel: clinical,
RefTitle functional and molecular studies of 38 patients.
RefLoc Clin Immunol:103-114 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Age 7 weeks
Sex XY
Ethnic origin Arabic
Relative NCF2base; M0035 brother
Relative NCF2base; M0037 cousin
Relative NCF2base; M0038 cousin
//
ID R102X(2c),R102X(2c); standard; MUTATION;
Accession M0037
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code P.22
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18708296
RefAuthors Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G.,
RefAuthors Etzioni, A., Roos, D.
RefTitle Chronic granulomatous disease in israel: clinical,
RefTitle functional and molecular studies of 38 patients.
RefLoc Clin Immunol:103-114 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Age 4.5
Sex XX
Ethnic origin Arabic
Relative NCF2base; M0035 cousin
Relative NCF2base; M0036 cousin
Relative NCF2base; M0038 sister
//
ID R102X(2d),R102X(2d); standard; MUTATION;
Accession M0038
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code P.23
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18708296
RefAuthors Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G.,
RefAuthors Etzioni, A., Roos, D.
RefTitle Chronic granulomatous disease in israel: clinical,
RefTitle functional and molecular studies of 38 patients.
RefLoc Clin Immunol:103-114 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Age 2 mo
Sex XX
Ethnic origin Arabic
Relative NCF2base; M0035 cousin
Relative NCF2base; M0036 cousin
Relative NCF2base; M0037 sister
//
ID R102X(3),R102X(3); standard; MUTATION;
Accession M0039
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 13-Aug-2010 (Rel. 1, Created)
Date 13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R102X(4),R102X(4); standard; MUTATION;
Accession M0075
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R102X(5),K342K(1); standard; MUTATION;
Accession M0079
Systematic name Allele 1: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Systematic name Allele 2: g.27577G>A, c.1026G>A, r.1026g>a, p.Lys342Lys
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the exon 11 leading to an
Description amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 27577
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1278
Feature /codon: aag -> aaa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 342
Feature /change: K -> K
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R102X(6),R102X(6); standard; MUTATION;
Accession M0098
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
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: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13921
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 102
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID D108V(1),D108V(1); standard; MUTATION;
Accession M0022
Systematic name Allele 1 and 2: g.13940A>T, c.323A>T, r.323a>u, p.Asp108Val
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13940
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 575
Feature /codon: gac -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 108
Feature /change: D -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13940
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 575
Feature /codon: gac -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 108
Feature /change: D -> V
Diagnosis Classical chronic granulomatous disease
Age 10
Sex XX
Symptoms Adenitis;
//
ID A128V(1a),A128V(1a); standard; MUTATION;
Accession M0013
Systematic name Allele 1 and 2: g.16977C>T, c.383C>T, r.383c>u, p.Ala128Val
Original code Patient 1a
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 15-Nov-2006 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598813
RefAuthors Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S.,
RefAuthors Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P.
RefAuthors G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by novel mutations in NCF-2, the gene encoding the p67-
RefTitle phox component of phagocyte NADPH oxidase.
RefLoc Hum Genet 105:460-467 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 16977
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature /codon: gct -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 128
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 16977
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature /codon: gct -> gtt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 128
Feature /change: A -> V
Phenotype A67 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Venezuelan
Family history Inherited
Relative NCF2base; M0014 brother
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0013
//
ID A128V(1b),A128V(1b); standard; MUTATION;
Accession M0014
Systematic name Allele 1 and 2: g.16977C>T, c.383C>T, r.383c>u, p.Ala128Val
Original code Patient 1b
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 15-Nov-2006 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598813
RefAuthors Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S.,
RefAuthors Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P.
RefAuthors G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by novel mutations in NCF-2, the gene encoding the p67-
RefTitle phox component of phagocyte NADPH oxidase.
RefLoc Hum Genet 105:460-467 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 16977
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature /codon: gct -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 128
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 16977
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature /codon: gct -> gtt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 128
Feature /change: A -> V
Phenotype A67 0
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Venezuelan
Family history Inherited
Relative NCF2base; M0013 brother
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0014
//
ID M130R(2),R184X(3); standard; MUTATION;
Accession M0115
Systematic name Allele 1: g.16983T>G, c.389T>G, r.389u>g, p.Met130Arg
Systematic name Allele 2: g.18338C>T, c.550C>T, r.550c>u, p.Arg184X
Original code LLR
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 24-Jul-2014 (Rel. 1, Created)
Date 24-Jul-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-Jul-2014) to NCF2base.
RefLoc Antonio Ferreira; Unidad de inmunologia-Planta
RefLoc sotano-Hospital Infantil-Hospital La Paz-Castellana
RefLoc 261-Madrid-Spain; Tel 917277234; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 16983
Feature /change: t -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 641
Feature /codon: atg -> agg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 130
Feature /change: M -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18338
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 802
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 184
Feature /change: R -> X
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Sex male
Ethnic origin Caucasoid; Spain
Family history Inherited
Cell tests NBT test; DHR; Superoxide; Cytometry
Treatment Prophylaxis; Antibiotics;
//
ID @K134X145(1),@K134X145(1); standard; MUTATION;
Accession M0006
Systematic name Allele 1 and 2: g.16992_16993dup, c.398_399dup,
Systematic name r.398_399dup, p.Lys134fsX12
Original code KA
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 29-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7795241
RefAuthors Nunoi, H., Iwata, M., Tatsuzawa, S., Onoe, Y., Shimizu,
RefAuthors S., Kanegasaki, S., Matsuda, I.
RefTitle AG dinucleotide insertion in a patient with chronic
RefTitle granulomatous disease lacking cytosolic 67-kD protein
RefLoc Blood 86:329-333 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0100: 16994
Feature /change: +ag
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 652
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 134
Feature /change: K -> RRRNGKKLKN SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0100: 16994
Feature /change: +ag
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 652
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 134
Feature /change: K -> RRRNGKKLKN SX
Phenotype A67 0
Age 19
Sex XY
Symptoms Perianal abscess; Liver abscess; Severe lung abscess;
Symptoms Pneumonia;
//
ID D160V/K161E(1),=; standard; MUTATION;
Accession M0012
Systematic name Allele 1: g.[17073A>T; 17075A>G], c.[479A>T; 481A>G],
Systematic name r.[479a>u; 481a>g], p.[Asp160Val; Lys161Glu]
Description Allele 1: Two point mutations in the exon 4 leading to
Description amino acid changes
Date 15-Nov-2006 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9070911
RefAuthors Bonizzato, A., Russo, M. P., Donini, M., Dusi, S.
RefTitle Identification of a double mutation (D160V-K161E) in the
RefTitle p67phox gene of a chronic granulomatous disease patient.
RefLoc Biochem Biophys Res Commun:861-863 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17073
Feature /change: a -> t
Feature /genomic_region: exon; 4
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17075
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 731
Feature /codon: gac -> gtc; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 733
Feature /codon: aag -> gag; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 160
Feature /change: D -> V
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 161
Feature /change: K -> E
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: unknown
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: unknown
Feature aa; 9
Feature /rnalink: 8
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0012
//
ID W137R(1),W137R(1); standard; MUTATION;
Accession M0072
Systematic name Allele 1 and 2: g.17003T>A, c.409T>A, r.409u>a, p.Trp137Arg
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17003
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 661
Feature /codon: tgg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 137
Feature /change: W -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17003
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 661
Feature /codon: tgg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 137
Feature /change: W -> R
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID #K161X176(1),#K161X176(1); standard; MUTATION;
Accession M0088
Systematic name Allele 1 and 2: g.17076delA, c.482delA, r.482dela,
Systematic name p.Lys161fsX16
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 17076
Feature /change: -a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 734
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 161
Feature /change: K -> RRWSVSGSRS YMSQWX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 17076
Feature /change: -a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 734
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 161
Feature /change: K -> RRWSVSGSRS YMSQWX
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Q169E(1),Q169E(1); standard; MUTATION;
Accession M0081
Systematic name Allele 1 and 2: g.18293C>G, c.505C>G, r.505c>g, p.Gln169Glu
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18293
Feature /change: c -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 757
Feature /codon: cag -> gag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 169
Feature /change: Q -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18293
Feature /change: c -> g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 757
Feature /codon: cag -> gag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 169
Feature /change: Q -> E
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID R184P(1),R184P(1); standard; MUTATION;
Accession M0052
Systematic name Allele 1 and 2: g.18339G>C, c.551G>C, r.551g>c, p.Arg184Pro
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18339
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 803
Feature /codon: cga -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 184
Feature /change: R -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18339
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 803
Feature /codon: cga -> cca; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 184
Feature /change: R -> P
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID R184X(1),R184X(1); standard; MUTATION;
Accession M0064
Systematic name Allele 1 and 2: g.18338C>T, c.550C>T, r.550c>u, p.Arg184X
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18338
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: C0100; GI:1346669; NCF2C: 802
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 184
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18338
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 802
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 184
Feature /change: R -> X
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Q192X(1),Q192X(1); standard; MUTATION;
Accession M0034
Systematic name Allele 1 and 2: g.18362C>T, c.574C>T, r.574c>u, p.Gln192X
Original code P.4
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683193
RefAuthors Al-Muhsen, S., Al-Hemidan, A., Al-Shehri, A., Al-Harbi,
RefAuthors A., Al-Ghonaium, A., Al-Saud, B., Al-Mousa, H., Al-Dhekri,
RefAuthors H., Arnaout, R., Al-Mohsen, I., Alsmadi, O.
RefTitle Ocular manifestations in chronic granulomatous disease in
RefTitle saudi arabia.
RefLoc J AAPOS:396-399 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18362
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 826
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 192
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18362
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 826
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 192
Feature /change: Q -> X
Diagnosis Classical chronic granulomatous disease
Age 1
Sex XY
Ethnic origin Saudi Arabia
Symptoms Recurrent skin abscess; Chorioretinal lesions;
//
ID #K196-1(1),#K196-1(1); standard; MUTATION;
Accession M0100
Systematic name Allele 1 and 2: g.18374_18376delAAG, c.586_588delAAG,
Systematic name r.586_588delaag, p.Lys196del
Description Allele 1 and 2: An inframe deletion in the exon 5 leading
Description to an amino acid change
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 18374..18376
Feature /change: -aag
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 838..840
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 196
Feature /change: -K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 18374..18376
Feature /change: -aag
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 838..840
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT P19878: 196
Feature /change: -K
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID A202V(1),A202V(1); standard; MUTATION;
Accession M0033
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Original code P.6
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19624736
RefAuthors Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M.,
RefAuthors Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos,
RefAuthors D.
RefTitle Four different NCF2 mutations in six families from turkey
RefTitle and an overview of NCF2 gene mutations.
RefLoc Eur J Clin Invest:942-951 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
Diagnosis Classical chronic granulomatous disease
Age 8
Sex XX
Symptoms Eczematous scalp skin;
Treatment Gamma-interferon; Sulbactam ampicillin; Itraconazole;
Treatment Cotrimoxazole;
//
ID A202V(2),A202V(2); standard; MUTATION;
Accession M0042
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID A202V(3a),A202V(3a); standard; MUTATION;
Accession M0043
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF2base; M0044
//
ID A202V(3b),A202V(3b); standard; MUTATION;
Accession M0044
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 18393
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 202
Feature /change: A -> V
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF2base; M0044
//
ID #E243X270(1a),Intron 3(7a); standard; MUTATION; SH3I,
Accession M0026
Systematic name Allele 1: g.24251delA, c.728delA, r.728dela,
Systematic name p.Glu243fsX28
Systematic name Allele 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code P11a
Description Allele 1: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the SH3I domain
Description Allele 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24251
Feature /change: -a
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 980
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 243
Feature /change: E -> GLTVCYLGLC LRQKKSSRSC QGTLSLSX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Age 3
Relative NCF2base; M0027;
Symptoms Serratia skin abscess;
//
ID #E243X270(1b),Intron 3(7b); standard; MUTATION; SH3I,
Accession M0027
Systematic name Allele 1: g.24251delA, c.728delA, r.728dela,
Systematic name p.Glu243fsX28
Systematic name Allele 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code P11b
Description Allele 1: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the SH3I domain
Description Allele 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24251
Feature /change: -a
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 980
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 243
Feature /change: E -> GLTVCYLGLC LRQKKSSRSC QGTLSLSX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Age 1 mo
Relative NCF2base; M0026;
Symptoms Serratia cellulitis; Adenitis;
//
ID @E257X271(1),@E257X271(1); standard; MUTATION; SH3I,SH3I
Accession M0090
Systematic name Allele 1 and 2: g.24290_24291dup, c.767_768dup,
Systematic name r.767_768dup, p.Glu257fsX15
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 8 leading to a premature stop codon in the SH3I domain
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0100: 24292
Feature /change: +aa
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1021
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 257
Feature /change: E -> KKSSRSCQGT LSLSX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0100: 24292
Feature /change: +aa
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1021
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 257
Feature /change: E -> KKSSRSCQGT LSLSX
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #V267X274(1),#V267X274(1); standard; MUTATION; SH3I,SH3I
Accession M0062
Systematic name Allele 1 and 2: g.24322_24323delGT, c.799_800delGT,
Systematic name r.799_800delgu, p.Val267fsX8
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the SH3I domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18546332
RefAuthors Kannengiesser, C., Gerard, B., El Benna, J., Henri, D.,
RefAuthors Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M.
RefAuthors A., Elbim, C., Grandchamp, B.
RefTitle Molecular epidemiology of chronic granulomatous disease in
RefTitle a series of 80 kindreds: identification of 31 novel
RefTitle mutations.
RefLoc Hum Mutat:E132-149 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24322..24323
Feature /change: -gt
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1051..1052
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 267
Feature /change: V -> LCLEEGQX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24322..24323
Feature /change: -gt
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1051..1052
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 267
Feature /change: V -> LCLEEGQX
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID #T279X294(1),#T279X294(1); standard; MUTATION; SH3I,SH3I
Accession M0017
Systematic name Allele 1 and 2: g.24358_24359delAC, c.835_836delAC,
Systematic name r.835_836delac, p.Thr279fsX16
Original code Patient 4
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the SH3I domain
Date 15-Nov-2006 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598813
RefAuthors Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S.,
RefAuthors Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P.
RefAuthors G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by novel mutations in NCF-2, the gene encoding the p67-
RefTitle phox component of phagocyte NADPH oxidase.
RefLoc Hum Genet:460-467 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24358..24359
Feature /change: -ac
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 279
Feature /change: T -> GHVQRAEGAC SLQLPX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24358..24359
Feature /change: -ac
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 279
Feature /change: T -> GHVQRAEGAC SLQLPX
Feature /domain: SH3I
Phenotype A67 0
Diagnosis Classical chronic granulomatous disease
Sex XX
Ethnic origin Indian
Symptoms Pneumonia, lymphadenitis caused by Serratia marcescens
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0017
//
ID #T279X294(2),#T279X294(2); standard; MUTATION; SH3I,SH3I
Accession M0082
Systematic name Allele 1 and 2: g.24358_24359delAC, c.835_836delAC,
Systematic name r.835_836delac, p.Thr279fsX16
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the SH3I domain
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24358..24359
Feature /change: -ac
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 279
Feature /change: T -> GHVQRAEGAC SLQLPX
Feature /domain: SH3I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 24358..24359
Feature /change: -ac
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 279
Feature /change: T -> GHVQRAEGAC SLQLPX
Feature /domain: SH3I
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Q367X(1),Q367X(1); standard; MUTATION; OPR,OPR
Accession M0083
Systematic name Allele 1 and 2: g.28069C>T, c.1099C>T, r.1099c>u, p.Gln367X
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon in the OPR domain
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28069
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1351
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 367
Feature /change: Q -> X
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28069
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1351
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 367
Feature /change: Q -> X
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Y372X(1),Y372X(1); standard; MUTATION; OPR,OPR
Accession M0117
Systematic name Allele 1 and 2: g.28086C>A, c.1116C>A, r.1116c>a, p.Tyr372X
Original code AVG
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon in the OPR domain
Date 24-Jul-2014 (Rel. 1, Created)
Date 24-Jul-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-Jul-2014) to NCF2base.
RefLoc Antonio Ferreira; Unidad de Inmunologia-Planta
RefLoc sotano-Hospital Infantil-Hospital La Paz-Madrid-Spain; Tel
RefLoc 917277234; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28086
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1368
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 372
Feature /change: Y -> X
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28086
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1368
Feature /codon: tac -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 372
Feature /change: Y -> X
Feature /domain: OPR
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Age 6
Sex female
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Mother and father carriers
Symptoms Tibial osteomyelitis, abscessed lymphadenitis
Symptoms laterocervical
Cell tests NBT test; DHR; Superoxide;
Treatment Prophylaxis; Antibiotics; Stem cell transplantation
//
ID Q374X(1),Q374X(1); standard; MUTATION; OPR,OPR
Accession M0120
Systematic name Allele 1 and 2: g.28090C>T, c.1120C>T, r.1120c>u, p.Gln374X
Original code DNG
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon in the OPR domain
Date 24-Jul-2014 (Rel. 1, Created)
Date 24-Jul-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-Jul-2014) to NCF2base.
RefLoc Antonio Ferreira; Unidad de Inmunologia-Planta
RefLoc sotano-Hospital Infantil-Hospital La Paz-Madrid-Spain; Tel
RefLoc 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28090
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1372
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 374
Feature /change: Q -> X
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28090
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1372
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 374
Feature /change: Q -> X
Feature /domain: OPR
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Family history Inherited
Cell tests NBT test; DHR; Superoxide;
Treatment Prophylaxis; Antibiotics;
//
ID #T390X399(1),#T390X399(1); standard; MUTATION;
Accession M0005
Systematic name Allele 1 and 2: g.28139_28143delCTAAG, c.1169_1173delCTAAG,
Systematic name r.1169_1173delcuaag, p.Lys391fsX9
Original code AA
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 29-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10498624
RefAuthors Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J.,
RefAuthors de Olarte, D. G., Curnutte, J. T.
RefTitle Molecular characterization of autosomal recessive chronic
RefTitle granulomatous disease caused by a defect of the
RefTitle nicotinamide adenine dinucleotide phosphate (reduced form)
RefTitle oxidase component p67-phox.
RefLoc Blood 94:2505-2514 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28139..28143
Feature /change: -ctaag
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 390..391
Feature /change: TK -> TELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28139..28143
Feature /change: -ctaag
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 390..391
Feature /change: TK -> TELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Age 2
Sex XY
Ethnic origin Palestinian
Symptoms Failure to thrive; Peritonitis;
Comment Patient's sister died of septicemia and multi organ failure
Comment at the age of 40 days
//
ID #T390X399(2),#T390X399(2); standard; MUTATION; OPR,OPR
Accession M0028
Systematic name Allele 1 and 2: g.28139_28143delCTAAG, c.1169_1173delCTAAG,
Systematic name r.1169_1173delcuaag, p.Lys391fsX9
Original code P17
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28139..28143
Feature /change: -ctaag
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 390..391
Feature /change: TK -> TELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28139..28143
Feature /change: -ctaag
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 390..391
Feature /change: TK -> TELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Age 2 mo
Symptoms Candida lusitaniae peritonitis;
//
ID #K391X399(1a),#K391X399(1a); standard; MUTATION; OPR,OPR
Accession M0055
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF2base; M0056
//
ID #K391X399(1b),#K391X399(1b); standard; MUTATION; OPR,OPR
Accession M0056
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF2base; M0055
//
ID #K391X399(2a),#K391X399(2a); standard; MUTATION; OPR,OPR
Accession M0057
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code I2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18773283
RefAuthors Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A.,
RefAuthors El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A.,
RefAuthors Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle First report of clinical, functional, and molecular
RefTitle investigation of chronic granulomatous disease in nine
RefTitle jordanian families.
RefLoc J Clin Immunol:215-230 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF2base; M0058
Symptoms Granuloma in lung; Heart failure;
//
ID #K391X399(2b),#K391X399(2b); standard; MUTATION; OPR,OPR
Accession M0058
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code I3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18773283
RefAuthors Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A.,
RefAuthors El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A.,
RefAuthors Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle First report of clinical, functional, and molecular
RefTitle investigation of chronic granulomatous disease in nine
RefTitle jordanian families.
RefLoc J Clin Immunol:215-230 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF2base; M0057
Symptoms Hepatomegaly; Anemia; Lymphadenitis; Chickenpox;
//
ID #K391X399(3),#K391X399(3); standard; MUTATION; OPR,OPR
Accession M0068
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code C1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18773283
RefAuthors Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A.,
RefAuthors El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A.,
RefAuthors Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle First report of clinical, functional, and molecular
RefTitle investigation of chronic granulomatous disease in nine
RefTitle jordanian families.
RefLoc J Clin Immunol:215-230 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XY
Symptoms Multifocal osteomyelitis; Hepatomegaly; Bacteriemia;
Symptoms Occasional fever; Hepatitis A; Amoebiasis; Failure
Symptoms to thrive;
//
ID #K391X399(4),#K391X399(4); standard; MUTATION; OPR,OPR
Accession M0069
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code F5
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18773283
RefAuthors Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A.,
RefAuthors El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A.,
RefAuthors Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle First report of clinical, functional, and molecular
RefTitle investigation of chronic granulomatous disease in nine
RefTitle jordanian families.
RefLoc J Clin Immunol:215-230 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XX
Symptoms Fever; Diarrhoea; Hepatitis; Skina and perianal abscesses;
Symptoms Respiratory tract infection; Lymphadenitis; Peritonitis;
Symptoms Hepatomegaly;
//
ID #K391X399(5),#K391X399(5); standard; MUTATION; OPR,OPR
Accession M0070
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the OPR domain
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28141..28145
Feature /change: -aagct
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 391..392
Feature /change: KL -> ELSASGQQX
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID N419I(1),N419I(1); standard; MUTATION; OPR,OPR
Accession M0019
Systematic name Allele 1 and 2: g.28353A>T, c.1256A>T, r.1256a>u,
Systematic name p.Asn419Ile
Original code CGD-17
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change in the OPR domain
Date 15-Nov-2006 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16937026
RefAuthors El Kares, R., Barbouche, M. R., Elloumi-Zghal, H.,
RefAuthors Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N.,
RefAuthors Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S.,
RefAuthors Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle Genetic and mutational heterogeneity of autosomal
RefTitle recessive chronic granulomatous disease in tunisia.
RefLoc J Hum Genet 51:887-895 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28353
Feature /change: a -> t
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1508
Feature /codon: aac -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 419
Feature /change: N -> I
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 28353
Feature /change: a -> t
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1508
Feature /codon: aac -> atc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT P19878: 419
Feature /change: N -> I
Feature /domain: OPR
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Tunisian
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0019
//
ID #N428X482(1),#N428X482(1); standard; MUTATION; OPR,OPR
Accession M0121
Systematic name Allele 1 and 2: g.28381_28384delCACA, c.1284_1287delCACA,
Systematic name r.1284_1287delcaca, p.Asn428fsX55
Original code GJH
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 13 leading to a premature stop codon in the OPR domain
Date 13-Oct-2014 (Rel. 1, Created)
Date 13-Oct-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (13-Oct-2014) to NCF2base.
RefLoc Antonio Ferreira; Immunology Unit,Hospital
RefLoc Materno-Infantil,Hospital La Paz,Castellana 261, 28046
RefLoc Madrid,Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28381..28384
Feature /change: -caca
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1536..1539
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 428..429
Feature /change: NT ->
Feature /change: KWVTKAFQMN PRKVKKLMLI TRQQNLSLRK AAKWRHSSVM
Feature /change: RLPNQRTWSF RKGIX
Feature /domain: OPR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0100: 28381..28384
Feature /change: -caca
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1536..1539
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 428..429
Feature /change: NT ->
Feature /change: KWVTKAFQMN PRKVKKLMLI TRQQNLSLRK AAKWRHSSVM
Feature /change: RLPNQRTWSF RKGIX
Feature /domain: OPR
Protein level Normal
Activity Much reduced
Diagnosis Classical chronic granulomatous disease
Age 11
Sex XX
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Father and mother carriers
Symptoms Anal fistula, abscess,Crohn Disease
Cell tests NBT test; DHR; Superoxide; Cytometry
//
ID Intron 2(1),Intron 2(1); standard; MUTATION;
Accession M0085
Systematic name Allele 1 and 2: g.13874G>A, c.258-1G>A, r.258-1g>a
Description Allele 1 and 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13874
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13874
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Intron 2(2),Intron 2(2); standard; MUTATION;
Accession M0116
Systematic name Allele 1 and 2: g.4688G>T, c.257+1G>T, r.257+1g>u
Original code FRM
Description Allele 1 and 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 22-Oct-2013 (Rel. 1, Created)
Date 22-Oct-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (22-Oct-2013) to NCF2base.
RefLoc Antonio Ferreira; Unidad de Inmunologia.Planta sotano
RefLoc Hospital Infantil.Hospital La Paz. Castellana 261. 28046
RefLoc Madrid.Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4688
Feature /change: g -> t
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 4688
Feature /change: g -> t
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Age 18
Sex female
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Mother and father carriers
Symptoms adenitis post BCG, submandibular toxoplasmosis,recurrent
Symptoms pneumonias, supurative adenitis,tuberculosis, hepatic
Symptoms abscesse,autoimmunity
Cell tests NBT test; DHR; Superoxide; Citometry
Treatment Prophylaxis; Antibiotics; Drainage;
Comment Mutation causes exon 3 deletion
//
ID Intron 3(1),Intron 3(1); standard; MUTATION;
Accession M0010
Systematic name Allele 1 and 2: g.13985T>C, c.366+2T>C, r.366+2u>c
Original code GZ
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 29-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7803798
RefAuthors Tanugi-Cholley, L.C., Issartel, J.P., Lunardi, J.,
RefAuthors Freycon, F., Morel, F., Vignais, P.V.
RefTitle A mutation located at the 5' splice junction sequence of
RefTitle intron 3 in the p67phox gene causes the lack of p67phox
RefTitle mRNA in a patient with chronic granulomatous disease
RefLoc Blood 85:242-249 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13985
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13985
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A67 0
Diagnosis Classical chronic granulomatous disease
Age 19
Sex XX
Ethnic origin North African
Symptoms Recurrent lymphadenitis; Osteomyelitis; Abscesses;
//
ID Intron 3(2),Intron 3(2); standard; MUTATION;
Accession M0020
Systematic name Allele 1 and 2: g.IVS3+2T>C, c.366+2T>C, r.366+2u>c
Original code CGD-193
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 15-Nov-2006 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16937026
RefAuthors El Kares, R., Barbouche, M. R., Elloumi-Zghal, H.,
RefAuthors Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N.,
RefAuthors Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S.,
RefAuthors Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle Genetic and mutational heterogeneity of autosomal
RefTitle recessive chronic granulomatous disease in tunisia.
RefLoc J Hum Genet:887-895 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13985
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13985
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Tunisian
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0020
//
ID Intron 3(5),Intron 3(5); standard; MUTATION;
Accession M0024
Systematic name Allele 1 and 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code P9
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Age 1.5
Symptoms Lung and liver abscesses;
//
ID Intron 3(6),Intron 3(6); standard; MUTATION;
Accession M0025
Systematic name Allele 1 and 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code P10
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18625437
RefAuthors Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P.
RefAuthors G., Curnutte, J. T., Lewis, D. B.
RefTitle Focus on FOCIS: the continuing diagnostic challenge of
RefTitle autosomal recessive chronic granulomatous disease.
RefLoc Clin Immunol:117-126 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Symptoms Aspergillus pneumonia;
Comment Patient died at age 4 years.
//
ID Intron 3(8),K161X(1); standard; MUTATION;
Accession M0114
Systematic name Allele 1: g.13984G>A, c.366+1G>A, r.366+1g>a
Systematic name Allele 2: g.17075A>T, c.481A>T, r.481a>u, p.Lys161X
Original code VPG
Description Allele 1: A point mutation in the intron 3 leading to
Description aberrant splicing
Description Allele 2: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 22-Oct-2013 (Rel. 1, Created)
Date 22-Oct-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (22-Oct-2013) to NCF2base.
RefLoc Antonio Ferreira; Unidad de Inmunologia.Planta sotano
RefLoc Hospital Infantil.Hospital La Paz. Castellana 261. 28046
RefLoc Madrid.Spain; Tel 917277238; Fax 917277095; e-mail
RefLoc antonio.ferreira@salud.madrid.org
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 13984
Feature /change: g -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17075
Feature /change: a -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 733
Feature /codon: aag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT P19878: 161
Feature /change: K -> X
Protein level Absent
Activity Inactive
Diagnosis Classical chronic granulomatous disease
Age 3.5
Sex male
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Mother, father and sister carriers
Symptoms Liver abscesses, periungueal abscesses
Cell tests NBT test; DHR; Superoxide; Citometry
Treatment Prophylaxis; Drainage;
Comment Mother mutation g.1398G>A causes exon 3 skipping
//
ID Intron 4(2),Intron 4(2); standard; MUTATION;
Accession M0011
Systematic name Allele 1 and 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Original code IP
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 29-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10498624
RefAuthors Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J.,
RefAuthors de Olarte, D. G., Curnutte, J. T.
RefTitle Molecular characterization of autosomal recessive chronic
RefTitle granulomatous disease caused by a defect of the
RefTitle nicotinamide adenine dinucleotide phosphate (reduced form)
RefTitle oxidase component p67-phox.
RefLoc Blood 94:2505-2514 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Age 4
Sex XX
Ethnic origin Mexico
//
ID Intron 4(3),Intron 4(3); standard; MUTATION;
Accession M0018
Systematic name Allele 1 and 2: g.IVS4+1G>A, c.501+1G>A, r.501+1g>a
Original code Patient 5
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 15-Nov-2006 (Rel. 1, Created)
Date 15-Nov-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598813
RefAuthors Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S.,
RefAuthors Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P.
RefAuthors G.
RefTitle Autosomal recessive chronic granulomatous disease caused
RefTitle by novel mutations in NCF-2, the gene encoding the p67-
RefTitle phox component of phagocyte NADPH oxidase.
RefLoc Hum Genet 105:460-467 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
Ethnic origin Hispanic
Symptoms Multiple abscesses in his liver, spleen, and lungs
Comment The accession of this entry has been changed to maintain
Comment the uniformity in naming and it was previously N0018
//
ID Intron 4(5),Intron 4(5); standard; MUTATION;
Accession M0051
Systematic name Allele 1 and 2: g.17096G>C, c.501+1G>C, r.501+1g>c
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Intron 4(6),Intron 4(6); standard; MUTATION;
Accession M0060
Systematic name Allele 1 and 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18546332
RefAuthors Kannengiesser, C., Gerard, B., El Benna, J., Henri, D.,
RefAuthors Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M.
RefAuthors A., Elbim, C., Grandchamp, B.
RefTitle Molecular epidemiology of chronic granulomatous disease in
RefTitle a series of 80 kindreds: identification of 31 novel
RefTitle mutations.
RefLoc Hum Mutat:E132-149 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 17096
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Intron 5(1),Intron 5(1); standard; MUTATION;
Accession M0073
Systematic name Allele 1 and 2: g.20742G>T, c.610-1G>T, r.610-1g>u
Description Allele 1 and 2: A point mutation in the intron 5 leading to
Description aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 20742
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 20742
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Intron 9(1),Intron 9(1); standard; MUTATION;
Accession M0007
Systematic name Allele 1 and 2: g.24663G>A, c.924+1G>A, r.924+1g>a
Description Allele 1 and 2: A point mutation in the intron 9 leading to
Description aberrant splicing
Date 29-Sep-1999 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8781442
RefAuthors Aoshima, M., Nunoi, H., Shimazu, M., Shimizu, S.,
RefAuthors Tatsuzawa, O., Kenney, R.T., Kanegasaki, S.
RefTitle Two-exon skipping due to a point mutation in
RefTitle p67-phox--deficient chronic granulomatous disease
RefLoc Blood 88:1841-1845 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 24663
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 24663
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Phenotype A67 0
Diagnosis Classical chronic granulomatous disease
Age 24
Sex XY
Symptoms Recurrent skin abscess; Pneumonia; Cervical lymphadenitis;
Symptoms Gastroenteritis;
//
ID Intron 13(1a),Intron 13(1a); standard; MUTATION;
Accession M0065
Systematic name Allele 1 and 2: g.31307A>T, c.1291-2A>T, r.1291-2a>u
Description Allele 1 and 2: A point mutation in the intron 13 leading
Description to aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 31307
Feature /change: a -> t
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 31307
Feature /change: a -> t
Feature /genomic_region: intron; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF2base; M0066;
//
ID Intron 13(1b),Intron 13(1b); standard; MUTATION;
Accession M0066
Systematic name Allele 1 and 2: g.31307A>T, c.1291-2A>T, r.1291-2a>u
Description Allele 1 and 2: A point mutation in the intron 13 leading
Description to aberrant splicing
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0100: 31307
Feature /change: a -> t
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0100: 31307
Feature /change: a -> t
Feature /genomic_region: intron; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF2base; M0065;
//
ID Deletion(1),Deletion(1); standard; MUTATION;
Accession M0061
Systematic name Allele 1 and 2: g.13981_13985delGAGGT, c.364_366+2delGAGGT
Description Allele 1 and 2: An aminoacid deletion in exon 3 and two
Description base pair deletion in the donor site of intron 3 leading to
Description the deletion of exon 4
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18546332
RefAuthors Kannengiesser, C., Gerard, B., El Benna, J., Henri, D.,
RefAuthors Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M.
RefAuthors A., Elbim, C., Grandchamp, B.
RefTitle Molecular epidemiology of chronic granulomatous disease in
RefTitle a series of 80 kindreds: identification of 31 novel
RefTitle mutations.
RefLoc Hum Mutat:E132-149 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Deletion(2),Deletion(2); standard; MUTATION;
Accession M0063
Systematic name Allele 1 and 2: c.502-?_609+?del
Description Allele 1 and 2: Deletion of intron 4_5
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Deletion(3),Deletion(3); standard; MUTATION;
Accession M0071
Systematic name Allele 1 and 2: c.1-?_257+?del
Description Allele 1 and 2: Deletion of exons 1_2
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 1_2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 1_2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Deletion(4a),Deletion(4a); standard; MUTATION;
Accession M0076
Systematic name Allele 1 and 2: c.366+2401_502-527del, p.V123_W167del
Description Allele 1 and 2: Deletion of intron 4_5.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19953534
RefAuthors Gentsch, M., Kaczmarczyk, A., van Leeuwen, K., de Boer,
RefAuthors M., Kaus-Drobek, M., Dagher, M. C., Kaiser, P., Arkwright,
RefAuthors P. D., Gahr, M., Rosen-Wolff, A., Bochtler, M., Secord,
RefAuthors E., Britto-Williams, P., Saifi, G. M., Maddalena, A.,
RefAuthors Dbaibo, G., Bustamante, J., Casanova, J. L., Roos, D.,
RefAuthors Roesler, J.
RefTitle Alu-repeat-induced deletions within the NCF2 gene causing
RefTitle p67-phox-deficient chronic granulomatous disease (CGD).
RefLoc Hum Mutat:151-158 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
Relative NCF2base; M0077;
//
ID Deletion(4b),Deletion(4b); standard; MUTATION;
Accession M0077
Systematic name Allele 1 and 2: c.366+2401_502-527del, p.V123_W167del
Description Allele 1 and 2: Deletion of intron 4_5.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19953534
RefAuthors Gentsch, M., Kaczmarczyk, A., van Leeuwen, K., de Boer,
RefAuthors M., Kaus-Drobek, M., Dagher, M. C., Kaiser, P., Arkwright,
RefAuthors P. D., Gahr, M., Rosen-Wolff, A., Bochtler, M., Secord,
RefAuthors E., Britto-Williams, P., Saifi, G. M., Maddalena, A.,
RefAuthors Dbaibo, G., Bustamante, J., Casanova, J. L., Roos, D.,
RefAuthors Roesler, J.
RefTitle Alu-repeat-induced deletions within the NCF2 gene causing
RefTitle p67-phox-deficient chronic granulomatous disease (CGD).
RefLoc Hum Mutat:151-158 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
Relative NCF2base; M0076;
//
ID Deletion(5),Deletion(5); standard; MUTATION;
Accession M0087
Systematic name Allele 1: c.367-?_501+?del
Description Allele 1: Deletion of exon 4.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Deletion(6),Deletion(6); standard; MUTATION;
Accession M0101
Systematic name Allele 1: c.175-?_257+?del
Description Allele 1: Deletion of exon 2.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Deletion(7),Deletion(7); standard; MUTATION;
Accession M0102
Systematic name Allele 1: c.175-?_257+?del
Description Allele 1: Deletion of exon 2.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Deletion(8),Deletion(8); standard; MUTATION;
Accession M0103
Systematic name Allele 1: c.258-?_366+?del
Description Allele 1: Deletion of exon 3.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
ID Deletion(9),Deletion(9); standard; MUTATION;
Accession M0104
Systematic name Allele 1: c.1-?_257+?del
Description Allele 1: Deletion of exon 1_2.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20167518
RefAuthors Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J.,
RefAuthors Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M.
RefAuthors Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S.
RefAuthors M., Gallin, J. I., Stasia, M. J.
RefTitle Hematologically important mutations: the autosomal
RefTitle recessive forms of chronic granulomatous disease (second
RefTitle update).
RefLoc Blood Cells Mol Dis:291-299 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 1_2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 1_2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
//
ID Insertion (1), Insertion (1); standard; MUTATION;
Accession M0059
Systematic name Allele 1 and 2: c.856-?_1000+?dup
Description Allele 1 and 2: Duplication of exons 9 and 10
Date 16-Aug-2010 (Rel. 1, Created)
Date 16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11499676
RefAuthors Borgato, L., Bonizzato, A., Lunardi, C., Dusi, S.,
RefAuthors Andrioli, G., Scarperi, A., Corrocher, R.
RefTitle A 1.1-kb duplication in the p67-phox gene causes chronic
RefTitle granulomatous disease.
RefLoc Hum Genet:504-510 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /genomic_region: exons; 9-10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /genomic_region: exons; 9-10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XY
//
ID Insertion(2),?; standard; MUTATION;
Accession M0080
Systematic name Allele 1: c.714-?_924+?ins
Description Allele 1: Duplication of exon 8_9.
Date 17-Aug-2010 (Rel. 1, Created)
Date 17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19953534
RefAuthors Gentsch, M., Kaczmarczyk, A., van Leeuwen, K., de Boer,
RefAuthors M., Kaus-Drobek, M., Dagher, M. C., Kaiser, P., Arkwright,
RefAuthors P. D., Gahr, M., Rosen-Wolff, A., Bochtler, M., Secord,
RefAuthors E., Britto-Williams, P., Saifi, G. M., Maddalena, A.,
RefAuthors Dbaibo, G., Bustamante, J., Casanova, J. L., Roos, D.,
RefAuthors Roesler, J.
RefTitle Alu-repeat-induced deletions within the NCF2 gene causing
RefTitle p67-phox-deficient chronic granulomatous disease (CGD).
RefLoc Hum Mutat:151-158 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /genomic_region: exon; 8_9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Classical chronic granulomatous disease
Sex XX
//
//
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