Database MPObase
Version 1.0
File mpopub.html
Date 18-Jun-2007
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/MPObase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF82.html
Gene MPO
Disease Myeloperoxidase deficiency
OMIM 606989
GDB 120192
Sequence IDRefSeq:D0060; IDRefSeq:C0060; UniProt:P05164
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #T109X113(1),=; standard; MUTATION;
Accession M0030
Systematic name Allele 1: g.3520delA, c.325delA, r.325dela,
Systematic name p.Thr109fsX4
Original code C.E.
Description Allele 1: a frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 3520
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 488
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 109
Feature /change: T -> PGRRX
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 Partial MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID Y173C(1a),?; standard; MUTATION;
Accession M0019
Systematic name Allele 1: g.3899A>G, c.518A>G, r.518a>g, p.Tyr173Cys
Original code BS
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 23-Mar-2004 (Rel. 1, Created)
Date 23-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9637725
RefAuthors DeLeo, F. R., Goedken, M., McCormick, S. J., Nauseef, W.
RefAuthors M.
RefTitle A novel form of hereditary myeloperoxidase deficiency
RefTitle linked to endoplasmic reticulum/proteasome degradation.
RefLoc J Clin Invest 101:2900-2909 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 3899
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 681
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 173
Feature /change: Y -> C
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 Complete MPO deficiency
Sex XY
Relative MPObase; M0020; daughter
Relative MPObase; M0021; son
Relative MPObase; M0022; granddaughter
//
ID Y173C(1b),?; standard; MUTATION;
Accession M0020
Systematic name Allele 1: g.3899A>G, c.518A>G, r.518a>g, p.Tyr173Cys
Original code CJ
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 23-Mar-2004 (Rel. 1, Created)
Date 23-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9637725
RefAuthors DeLeo, F. R., Goedken, M., McCormick, S. J., Nauseef, W.
RefAuthors M.
RefTitle A novel form of hereditary myeloperoxidase deficiency
RefTitle linked to endoplasmic reticulum/proteasome degradation.
RefLoc J Clin Invest 101:2900-2909 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 3899
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 681
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 173
Feature /change: Y -> C
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 Partial MPO deficiency
Sex XX
Relative MPObase; M0019; father
Relative MPObase; M0021; brother
Relative MPObase; M0022; daughter
//
ID Y173C(1c),?; standard; MUTATION;
Accession M0021
Systematic name Allele 1: g.3899A>G, c.518A>G, r.518a>g, p.Tyr173Cys
Original code GS
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 23-Mar-2004 (Rel. 1, Created)
Date 23-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9637725
RefAuthors DeLeo, F. R., Goedken, M., McCormick, S. J., Nauseef, W.
RefAuthors M.
RefTitle A novel form of hereditary myeloperoxidase deficiency
RefTitle linked to endoplasmic reticulum/proteasome degradation.
RefLoc J Clin Invest 101:2900-2909 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 3899
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 681
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 173
Feature /change: Y -> C
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 Partial MPO deficiency
Sex XY
Relative MPObase; M0019; father
Relative MPObase; M0020; sister
Relative MPObase; M0022; niece
//
ID Y173C(1d),?; standard; MUTATION;
Accession M0022
Systematic name Allele 1: g.3899A>G, c.518A>G, r.518a>g, p.Tyr173Cys
Original code AJ
Description Allele 1: a point mutation in the exon 4 leading to
Description an amino acid change
Date 23-Mar-2004 (Rel. 1, Created)
Date 23-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9637725
RefAuthors DeLeo, F. R., Goedken, M., McCormick, S. J., Nauseef, W.
RefAuthors M.
RefTitle A novel form of hereditary myeloperoxidase deficiency
RefTitle linked to endoplasmic reticulum/proteasome degradation.
RefLoc J Clin Invest 101:2900-2909 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 3899
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 681
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 173
Feature /change: Y -> C
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 Partial MPO deficiency
Sex XX
Relative MPObase; M0019; grandfather
Relative MPObase; M0020; mother
Relative MPObase; M0021; uncle
//
ID M251T(1a),#P518X539(1a); standard; MUTATION;
Accession M0017
Systematic name Allele 1: g.4311T>C, c.752T>C, r.752u>c, p.Met251Thr
Systematic name Allele 2: g.9953_9966delCCCATGGAACCCAA,
Systematic name c.1552_1565delCCCATGGAACCCAA, r.1552_1565delcccauggaacccaa,
Systematic name p.Met519fsX20
Original code DP
Description Allele 1: a point mutation in the exon 6 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 9 leading to a
Description premature stop codon
Date 23-Mar-2004 (Rel. 1, Created)
Date 23-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9354683
RefAuthors Romano, M., Dri, P., Dadalt, L., Patriarca, P., Baralle,
RefAuthors F. E.
RefTitle Biochemical and molecular characterization of hereditary
RefTitle myeloperoxidase deficiency.
RefLoc Blood 90:4126-4134 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 4311
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 915
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 251
Feature /change: M -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1715..1728
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 518..522
Feature /change: PMEPN -> PPCPPQQGLF CLLEGRAGRW HX
Diagnosis Complete MPO deficiency
Sex XY
Relative MPObase; M0018 daughter
//
ID M251T(2),=; standard; MUTATION;
Accession M0027
Systematic name Allele 1: g.4311T>C, c.752T>C, r.752u>c, p.Met251Thr
Original code Z.A.
Description Allele 1: a point mutation in the exon 6 leading to
Description an amino acid change
Date 28-Apr-2004 (Rel. 1, Created)
Date 28-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 4311
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 915
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 251
Feature /change: M -> T
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 Partial MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID M251T(3),R569W(11); standard; MUTATION;
Accession M0032
Systematic name Allele 1: g.4311T>C, c.752T>C, r.752u>c, p.Met251Thr
Systematic name Allele 2: g.10600C>T, c.1705C>T, r.1705c>u, p.Arg569Trp
Original code C.G.
Description Allele 1: a point mutation in the exon 6 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 10 leading to an
Description amino acid change
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 4311
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 915
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 251
Feature /change: M -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
Diagnosis Complete MPO deficiency
Sex XY
Ethnic origin Caucasoid; Italy
//
ID M251T(4),=; standard; MUTATION;
Accession M0033
Systematic name Allele 1: g.4311T>C, c.752T>C, r.752u>c, p.Met251Thr
Original code C.A.
Description Allele 1: a point mutation in the exon 6 leading to
Description an amino acid change
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 4311
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 915
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 251
Feature /change: M -> T
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 Partial MPO deficiency
Sex XY
Ethnic origin Caucasoid; Italy
//
ID M251T(5),=; standard; MUTATION;
Accession M0036
Systematic name Allele 1: g.4311T>C, c.752T>C, r.752u>c, p.Met251Thr
Original code M.A.
Description Allele 1: a point mutation in the exon 6 leading to
Description an amino acid change
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 4311
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 915
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 251
Feature /change: M -> T
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 Partial MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID A332V(1),=; standard; MUTATION;
Accession M0029
Systematic name Allele 1: g.5414C>T, c.995C>T, r.995c>u, p.Ala332Val
Original code B.N.
Description Allele 1: a point mutation in the exon 7 leading to
Description an amino acid change
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 5414
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1158
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 332
Feature /change: A -> V
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 Partial MPO deficiency
Sex XY
Ethnic origin Caucasoid; Italy
//
ID A332V(2),L572W(1); standard; MUTATION;
Accession M0034
Systematic name Allele 1: g.5414C>T, c.995C>T, r.995c>u, p.Ala332Val
Systematic name Allele 2: g.10610T>G, c.1715T>G, r.1715u>g, p.Leu572Trp
Original code D.D.
Description Allele 1: a point mutation in the exon 7 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 10 leading to an
Description amino acid change
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 5414
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1158
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 332
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10610
Feature /change: t -> g
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1878
Feature /codon: ttg -> tgg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 572
Feature /change: L -> W
Diagnosis Complete MPO deficiency
Sex XY
Ethnic origin Caucasoid; Italy
//
ID D371G(1),=; standard; MUTATION;
Accession M0038
Systematic name Allele 1: g.5531A>G, c.1112A>G, r.1112a>g,
Systematic name p.Asp371Gly
Original code S.I.
Description Allele 1: a point mutation in the exon 7 leading to
Description an amino acid change
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 5531
Feature /change: a -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1275
Feature /codon: gac -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 371
Feature /change: D -> G
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 Partial MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID R499C(1),R499C(1); standard; MUTATION;
Accession M0024
Systematic name Allele 1 and 2: g.9896C>T, c.1495C>T, r.1495c>u,
Systematic name p.Arg499Cys
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description an amino acid change
Date 11-May-2005 (Rel. 1, Created)
Date 11-May-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15507753
RefAuthors Kameoka, Y., Persad, A. S., Suzuki, K.
RefTitle Genomic variations in myeloperoxidase gene in the japanese
RefTitle population.
RefLoc Jpn J Infect Dis 57:S12-13 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 9896
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1658
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 499
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 9896
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1658
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 499
Feature /change: R -> C
Diagnosis Complete MPO deficiency
//
ID G501S(1),G501S(1); standard; MUTATION;
Accession M0023
Systematic name Allele 1 and 2: g.9902G>A, c.1501G>A, r.1501g>a,
Systematic name p.Gly501Ser
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description an amino acid change
Date 24-Mar-2004 (Rel. 1, Created)
Date 24-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14980716
RefAuthors Ohashi, Y. Y., Kameoka, Y., Persad, A. S., Koi, F.,
RefAuthors Yamagoe, S., Hashimoto, K., Suzuki, K.
RefTitle Novel missense mutation found in a japanese patient with
RefTitle myeloperoxidase deficiency.
RefLoc Gene 327:195-200 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 9902
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1664
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 501
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 9902
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1664
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 501
Feature /change: G -> S
Diagnosis Complete MPO deficiency
Sex XY
Ethnic origin Mongoloid; Japan
//
ID #P518X539(1b),?; standard; MUTATION;
Accession M0018
Systematic name Allele 1: g.9953_9966delCCCATGGAACCCAA,
Systematic name c.1552_1565delCCCATGGAACCCAA, r.1552_1565delcccauggaacccaa,
Systematic name p.Met519fsX20
Original code MP
Description Allele 1: a frame shift deletion mutation in the exon 9
Description leading to a premature stop codon
Date 23-Mar-2004 (Rel. 1, Created)
Date 23-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9354683
RefAuthors Romano, M., Dri, P., Dadalt, L., Patriarca, P., Baralle,
RefAuthors F. E.
RefTitle Biochemical and molecular characterization of hereditary
RefTitle myeloperoxidase deficiency.
RefLoc Blood 90:4126-4134 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1708..1784
Feature /change: -gtaccagccc atggaaccca acccccgtgt ccccctcagc
Feature /change: agggtctttt ttgcctcctg gagggtcgtg ctggaag
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 515..541
Feature /change: RYQPMEPNPR VPLSRVFFAS WRVVLEG -> RWHX
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 Complete MPO deficiency
Sex XX
Relative MPObase; M0017; father
//
ID #P518X539(2),R569W(10); standard; MUTATION;
Accession M0026
Systematic name Allele 1: g.9953_9966delCCCATGGAACCCAA,
Systematic name c.1552_1565delCCCATGGAACCCAA, r.1552_1565delcccauggaacccaa,
Systematic name p.Met519fsX20
Systematic name Allele 2: g.10600C>T, c.1705C>T, r.1705c>u, p.Arg569Trp
Original code A.A.
Description Allele 1: a frame shift deletion mutation in the exon 9
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 10 leading to an
Description amino acid change
Date 28-Apr-2004 (Rel. 1, Created)
Date 28-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
RefNumber [2]
RefCrossRef PUBMED; 9354683
RefAuthors Romano, M., Dri, P., Dadalt, L., Patriarca, P., Baralle,
RefAuthors F. E.
RefTitle Biochemical and molecular characterization of hereditary
RefTitle myeloperoxidase deficiency.
RefLoc Blood 90:4126-4134 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1708..1784
Feature /change: -gtaccagccc atggaaccca acccccgtgt ccccctcagc
Feature /change: agggtctttt ttgcctcctg gagggtcgtg ctggaag
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 515..541
Feature /change: RYQPMEPNPR VPLSRVFFAS WRVVLEG -> RWHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
Diagnosis Complete MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID #P518X539(3),#P518X539(3); standard; MUTATION;
Accession M0028
Systematic name Allele 1 and 2: g.9953_9966delCCCATGGAACCCAA,
Systematic name c.1552_1565delCCCATGGAACCCAA, r.1552_1565delcccauggaacccaa,
Systematic name p.Met519fsX20
Original code B.M.
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 9 leading to a premature stop codon
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
RefNumber [2]
RefCrossRef PUBMED; 9354683
RefAuthors Romano, M., Dri, P., Dadalt, L., Patriarca, P., Baralle,
RefAuthors F. E.
RefTitle Biochemical and molecular characterization of hereditary
RefTitle myeloperoxidase deficiency.
RefLoc Blood 90:4126-4134 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1708..1784
Feature /change: -gtaccagccc atggaaccca acccccgtgt ccccctcagc
Feature /change: agggtctttt ttgcctcctg gagggtcgtg ctggaag
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 515..541
Feature /change: RYQPMEPNPR VPLSRVFFAS WRVVLEG -> RWHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1708..1784
Feature /change: -gtaccagccc atggaaccca acccccgtgt ccccctcagc
Feature /change: agggtctttt ttgcctcctg gagggtcgtg ctggaag
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 515..541
Feature /change: RYQPMEPNPR VPLSRVFFAS WRVVLEG -> RWHX
Diagnosis Complete MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID #P518X539(4),=; standard; MUTATION;
Accession M0035
Systematic name Allele 1: g.9953_9966delCCCATGGAACCCAA,
Systematic name c.1552_1565delCCCATGGAACCCAA, r.1552_1565delcccauggaacccaa,
Systematic name p.Met519fsX20
Original code L.G.
Description Allele 1: a frame shift deletion mutation in the exon
Description 9 leading to a premature stop codon
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
RefNumber [2]
RefCrossRef PUBMED; 9354683
RefAuthors Romano, M., Dri, P., Dadalt, L., Patriarca, P., Baralle,
RefAuthors F. E.
RefTitle Biochemical and molecular characterization of hereditary
RefTitle myeloperoxidase deficiency.
RefLoc Blood 90:4126-4134 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1708..1784
Feature /change: -gtaccagccc atggaaccca acccccgtgt ccccctcagc
Feature /change: agggtctttt ttgcctcctg gagggtcgtg ctggaag
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 515..541
Feature /change: RYQPMEPNPR VPLSRVFFAS WRVVLEG -> RWHX
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 Partial MPO deficiency
Sex XY
Ethnic origin Caucasoid; Italy
//
ID #P518X539(5),Intron 11(3); standard; MUTATION;
Accession M0037
Systematic name Allele 1: g.9953_9966delCCCATGGAACCCAA,
Systematic name c.1552_1565delCCCATGGAACCCAA, r.1552_1565delcccauggaacccaa,
Systematic name p.Met519fsX20
Systematic name Allele 2: g.IVS11-2A>C, c.2031-2A>C, r.2031-2a>c,
Original code R.M.
Description Allele 1: a frame shift deletion mutation in the exon 9
Description leading to a premature stop codon
Description Allele 2: a point mutation in the intron 11 leading to
Description aberrant splicing
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
RefNumber [2]
RefCrossRef PUBMED; 9354683
RefAuthors Romano, M., Dri, P., Dadalt, L., Patriarca, P., Baralle,
RefAuthors F. E.
RefTitle Biochemical and molecular characterization of hereditary
RefTitle myeloperoxidase deficiency.
RefLoc Blood 90:4126-4134 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1708..1784
Feature /change: -gtaccagccc atggaaccca acccccgtgt ccccctcagc
Feature /change: agggtctttt ttgcctcctg gagggtcgtg ctggaag
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 515..541
Feature /change: RYQPMEPNPR VPLSRVFFAS WRVVLEG -> RWHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 12564
Feature /change: a -> c
Feature /genomic_region: intron; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0060: 2194
Feature /change: +gtggcatttg ttgtggcttt gttatatcct gggagcagca
Feature /change: caagcccatc gatgccctgc cagcccagaa tatccttggg
Feature /change: cacagtgtcc atgggtgttc cccatgccg
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 677
Feature /change: R ->
Feature /change: RWHLLWLCYI LGAAQAHRCP ASPEYPWAQC PWVFPMPVLV
Feature /change: GERGCVQHAA ATGPGPDLIA PDHLRQHRHH HRVX
Diagnosis Complete MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID #P518X539(6),W643R(1); standard; MUTATION;
Accession M0039
Systematic name Allele 1: g.9953_9966delCCCATGGAACCCAA,
Systematic name c.1552_1565delCCCATGGAACCCAA, r.1552_1565delcccauggaacccaa,
Systematic name p.Met519fsX20
Systematic name Allele 2: g.11675T>C, c.1927T>C, r.1927u>c, p.Trp643Arg
Original code V.O.
Description Allele 1: a frame shift deletion mutation in the exon 9
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 11 leading to an
Description amino acid change
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
RefNumber [2]
RefCrossRef PUBMED; 9354683
RefAuthors Romano, M., Dri, P., Dadalt, L., Patriarca, P., Baralle,
RefAuthors F. E.
RefTitle Biochemical and molecular characterization of hereditary
RefTitle myeloperoxidase deficiency.
RefLoc Blood 90:4126-4134 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0060: 9953..9966
Feature /change: -cccatggaac ccaa
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0060: 1708..1784
Feature /change: -gtaccagccc atggaaccca acccccgtgt ccccctcagc
Feature /change: agggtctttt ttgcctcctg gagggtcgtg ctggaag
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 515..541
Feature /change: RYQPMEPNPR VPLSRVFFAS WRVVLEG -> RWHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 11675
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 2090
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 643
Feature /change: W -> R
Diagnosis Complete MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID R569W(1a),R569W(1a); standard; MUTATION;
Accession M0001
Systematic name Allele 1 and 2: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code LH
Description Allele 1 and 2: a point mutation in the exon 10 leading to
Description an amino acid change
Date 19-Mar-2004 (Rel. 1, Created)
Date 19-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7904599
RefAuthors Nauseef, W. M., Brigham, S., Cogley, M.
RefTitle Hereditary myeloperoxidase deficiency due to a missense
RefTitle mutation of arginine 569 to tryptophan.
RefLoc J Biol Chem 269:1212-1216 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
Diagnosis Complete MPO deficiency
Sex XX
Relative MPObase; M0002 brother
Relative MPObase; M0003 daughter
//
ID R569W(1b),?; standard; MUTATION;
Accession M0002
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code RH
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 19-Mar-2004 (Rel. 1, Created)
Date 19-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Partial MPO deficiency
Sex XY
Relative MPObase; M0001; sister
Relative MPObase; M0003; niece
//
ID R569W(1c),?; standard; MUTATION;
Accession M0003
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code BH
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 19-Mar-2004 (Rel. 1, Created)
Date 19-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Partial MPO deficiency
Sex XX
Relative MPObase; M0001; mother
Relative MPObase; M0002; uncle
//
ID R569W(2a),?; standard; MUTATION;
Accession M0004
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code PM
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7904599
RefAuthors Nauseef, W. M., Brigham, S., Cogley, M.
RefTitle Hereditary myeloperoxidase deficiency due to a missense
RefTitle mutation of arginine 569 to tryptophan.
RefLoc J Biol Chem 269:1212-1216 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Complete MPO deficiency
Sex XX
Relative MPObase; M0005; brother
Relative MPObase; M0006; son
//
ID R569W(2b),?; standard; MUTATION;
Accession M0005
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code LG
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Complete MPO deficiency
Sex XY
Relative MPObase; M0004; sister
Relative MPObase; M0006; nephew
//
ID R569W(2c),?; standard; MUTATION;
Accession M0006
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code FW
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Partial MPO deficiency
Sex XY
Relative MPObase; M0004; mother
Relative MPObase; M0005; uncle
//
ID R569W(3a),?; standard; MUTATION;
Accession M0007
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code DC
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7904599
RefAuthors Nauseef, W. M., Brigham, S., Cogley, M.
RefTitle Hereditary myeloperoxidase deficiency due to a missense
RefTitle mutation of arginine 569 to tryptophan.
RefLoc J Biol Chem 269:1212-1216 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Complete MPO deficiency
Sex XY
Relative MPObase; M0008; brother
//
ID R569W(3b),?; standard; MUTATION;
Accession M0008
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code GC
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Partial MPO deficiency
Sex XY
Relative MPObase; M0007; brother
//
ID R569W(4a),?; standard; MUTATION;
Accession M0009
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code RT
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Complete MPO deficiency
Sex XX
Relative MPObase; M0010; mother
//
ID R569W(4b),?; standard; MUTATION;
Accession M0010
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code RoT
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Partial MPO deficiency
Sex XX
Relative MPObase; M0009; daughter
//
ID R569W(5a),?; standard; MUTATION;
Accession M0011
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code CN
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7904599
RefAuthors Nauseef, W. M., Brigham, S., Cogley, M.
RefTitle Hereditary myeloperoxidase deficiency due to a missense
RefTitle mutation of arginine 569 to tryptophan.
RefLoc J Biol Chem 269:1212-1216 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Partial MPO deficiency
Sex XX
Relative MPObase; M0012; daughter
//
ID R569W(5b),?; standard; MUTATION;
Accession M0012
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code SR
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9468285
RefAuthors Nauseef, W. M., Cogley, M., Bock, S., Petrides, P. E.
RefTitle Pattern of inheritance in hereditary myeloperoxidase
RefTitle deficiency associated with the R569W missense mutation.
RefLoc J Leukoc Biol 63:264-269 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Partial MPO deficiency
Sex XX
Relative MPObase; M0011; mother
//
ID R569W(6),?; standard; MUTATION;
Accession M0013
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code JFu
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7904599
RefAuthors Nauseef, W. M., Brigham, S., Cogley, M.
RefTitle Hereditary myeloperoxidase deficiency due to a missense
RefTitle mutation of arginine 569 to tryptophan.
RefLoc J Biol Chem 269:1212-1216 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Complete MPO deficiency
//
ID R569W(7),?; standard; MUTATION;
Accession M0014
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code RT
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7904599
RefAuthors Nauseef, W. M., Brigham, S., Cogley, M.
RefTitle Hereditary myeloperoxidase deficiency due to a missense
RefTitle mutation of arginine 569 to tryptophan.
RefLoc J Biol Chem 269:1212-1216 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Complete MPO deficiency
//
ID R569W(8),?; standard; MUTATION;
Accession M0015
Systematic name Allele 1: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code FF
Description Allele 1: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7904599
RefAuthors Nauseef, W. M., Brigham, S., Cogley, M.
RefTitle Hereditary myeloperoxidase deficiency due to a missense
RefTitle mutation of arginine 569 to tryptophan.
RefLoc J Biol Chem 269:1212-1216 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
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 Complete MPO deficiency
//
ID R569W(9),R569W(9); standard; MUTATION;
Accession M0016
Systematic name Allele 1 and 2: g.10600C>T, c.1705C>T, r.1705c>u,
Systematic name p.Arg569Trp
Original code SQ
Description Allele 1 and 2: a point mutation in the exon 10 leading to
Description an amino acid change
Date 22-Mar-2004 (Rel. 1, Created)
Date 22-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8142659
RefAuthors Kizaki, M., Miller, C. W., Selsted, M. E., Koeffler, H. P.
RefTitle Myeloperoxidase (MPO) gene mutation in hereditary MPO
RefTitle deficiency.
RefLoc Blood 83:1935-1940 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 10600
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0060: 1868
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05164; PERM_HUMAN: 569
Feature /change: R -> W
Diagnosis Complete MPO deficiency
Sex XX
Ethnic origin Hispanic
//
ID Intron 11(1),Intron 11(1); standard; MUTATION;
Accession M0025
Systematic name Allele 1 and 2: g.IVS11-2A>C, c.2031-2A>C, r.2031-2a>c,
Original code A.P.
Description Allele 1 and 2: a point mutation in the intron 11 leading
Description to aberrant splicing
Date 27-Apr-2004 (Rel. 1, Created)
Date 27-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 12564
Feature /change: a -> c
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0060: 2194
Feature /change: +gtggcatttg ttgtggcttt gttatatcct gggagcagca
Feature /change: caagcccatc gatgccctgc cagcccagaa tatccttggg
Feature /change: cacagtgtcc atgggtgttc cccatgccg
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 677
Feature /change: R ->
Feature /change: RWHLLWLCYI LGAAQAHRCP ASPEYPWAQC PWVFPMPVLV
Feature /change: GERGCVQHAA ATGPGPDLIA PDHLRQHRHH HRVX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 12564
Feature /change: a -> c
Feature /genomic_region: intron; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0060: 2194
Feature /change: +gtggcatttg ttgtggcttt gttatatcct gggagcagca
Feature /change: caagcccatc gatgccctgc cagcccagaa tatccttggg
Feature /change: cacagtgtcc atgggtgttc cccatgccg
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 677
Feature /change: R ->
Feature /change: RWHLLWLCYI LGAAQAHRCP ASPEYPWAQC PWVFPMPVLV
Feature /change: GERGCVQHAA ATGPGPDLIA PDHLRQHRHH HRVX
Diagnosis Complete MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID Intron 11(2),Intron 11(2); standard; MUTATION;
Accession M0031
Systematic name Allele 1 and 2: g.IVS11-2A>C, c.2031-2A>C, r.2031-2a>c,
Original code C.M.
Description Allele 1 and 2: a point mutation in the intron 11 leading
Description to aberrant splicing
Date 05-May-2004 (Rel. 1, Created)
Date 05-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15108282
RefAuthors Marchetti, C., Patriarca, P., Solero, G. P., Baralle, F.
RefAuthors E., Romano, M.
RefTitle Genetic characterization of myeloperoxidase deficiency in
RefTitle italy.
RefLoc Hum Mutat 23:496-505 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0060: 12564
Feature /change: a -> c
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0060: 2194
Feature /change: +gtggcatttg ttgtggcttt gttatatcct gggagcagca
Feature /change: caagcccatc gatgccctgc cagcccagaa tatccttggg
Feature /change: cacagtgtcc atgggtgttc cccatgccg
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 677
Feature /change: R ->
Feature /change: RWHLLWLCYI LGAAQAHRCP ASPEYPWAQC PWVFPMPVLV
Feature /change: GERGCVQHAA ATGPGPDLIA PDHLRQHRHH HRVX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0060: 12564
Feature /change: a -> c
Feature /genomic_region: intron; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0060: 2194
Feature /change: +gtggcatttg ttgtggcttt gttatatcct gggagcagca
Feature /change: caagcccatc gatgccctgc cagcccagaa tatccttggg
Feature /change: cacagtgtcc atgggtgttc cccatgccg
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05164; PERM_HUMAN: 677
Feature /change: R ->
Feature /change: RWHLLWLCYI LGAAQAHRCP ASPEYPWAQC PWVFPMPVLV
Feature /change: GERGCVQHAA ATGPGPDLIA PDHLRQHRHH HRVX
Diagnosis Complete MPO deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
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