Database HAX1base
Version 1.1
File hax1pub.html
Date 16-Jun-2011
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/HAX1base/
Gene HAX1
Disease Severe congenital neutropenia (Kostmann disease)
OMIM 605998
Sequence IDRefSeq:D0121; IDRefSeq:C0121; UniProt:O00165
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #E31X84(1),Q190X(2); standard; MUTATION;
Accession H0031
Systematic name Allele 1: g.1863delG, c.91delG, r.91delg, p.Glu31fsX54
Systematic name Allele 2: g.3655C>T, c.568C>T, r.568c>u, p.Gln190X
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 22-Jul-2010 (Rel. 1, Created)
Date 22-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19499579
RefAuthors Carlsson, G., Elinder, G., Malmgren, H., Trebinska, A.,
RefAuthors Grzybowska, E., Dahl, N., Nordenskjold, M., Fadeel, B.
RefTitle Compound heterozygous HAX1 mutations in a swedish patient
RefTitle with severe congenital neutropenia and no
RefTitle neurodevelopmental abnormalities.
RefLoc Pediatr Blood Cancer:1143-1146 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0121: 1863
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 252
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 31
Feature /change: E ->
Feature /change: KMMMRKKKKK GAHGAVGTQG SIVLSTPLRN LASASASAQE
Feature /change: EGYVSTITSA LMTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3655
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 729
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 190
Feature /change: Q -> X
Symptoms Upper respiratory infection; Conjunctivitis; Neutropenia;
Symptoms Pneumonia; Otitis media;
Age 7 mo
Sex XY
Ethnic origin Sweden
//
ID @W44X(1a),@W44X(1a); standard; MUTATION;
Accession H0001
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code SCN-I;P1
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Omphalitis, pneumonia, lymphadenitis, sinusitis,
Symptoms beta-thalassemia minor, splenomegaly
Sex XY
Ethnic origin Caucasoid; Turkey (Kurdish)
Parents Consanguineous
Relative HAX1base; H0002 brother
Comment Absolute neutrophil count before G-CSF therapy: 224-400
//
ID @W44X(1b),@W44X(1b); standard; MUTATION;
Accession H0002
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code SCN-I;P2
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Oral ulcers, otitis, pneumonia, bacteremia, splenomegaly
Sex XY
Ethnic origin Caucasoid; Turkey (Kurdish)
Parents Consanguineous
Relative HAX1base; H0001 brother
Comment Absolute neutrophil count before G-CSF therapy: 192-400
//
ID @W44X(2),@W44X(2); standard; MUTATION;
Accession H0003
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code SCN-II;P3
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Pneumonia, skin abscess, stomatitis, tonsillitis, growth
Symptoms hormone deficiency, splenomegaly
Sex XX
Ethnic origin Caucasoid; Turkey (Kurdish)
Parents Non-consanguineous
Comment Absolute neutrophil count before G-CSF therapy: 0-410
//
ID @W44X(3),@W44X(3); standard; MUTATION;
Accession H0004
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code SCN-III;P4
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Pneumonia, otitis, skin abscess, tricuspid insufficiency,
Symptoms splenomegaly
Sex XX
Ethnic origin Caucasoid; Turkey (Kurdish)
Parents Consanguineous
Comment Absolute neutrophil count before G-CSF therapy: 84-116
//
ID @W44X(4),@W44X(4); standard; MUTATION;
Accession H0005
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 5
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Lymphadenitis, skin abscess, septicemia, mastoiditis,
Symptoms otitis
Sex XY
Ethnic origin Caucasoid; Turkey (Kurdish)
Parents Non-consanguineous
Comment Absolute neutrophil count before G-CSF therapy: 0-464.
Comment CSFR3 mutation 2045C>T 8 yrs after G-CSF.
//
ID @W44X(5),@W44X(5); standard; MUTATION;
Accession H0006
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 6
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Skin abscess, bronchitis
Sex XX
Ethnic origin Caucasoid; Turkey (Kurdish)
Comment Absolute neutrophil count before G-CSF therapy: 200
//
ID @W44X(6),@W44X(6); standard; MUTATION;
Accession H0007
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 7
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Pneumonia, skin abscess, bronchitis, splenomegaly
Sex XX
Ethnic origin Caucasoid; Turkey
Comment Absolute neutrophil count before G-CSF therapy: 535-1,188
//
ID @W44X(7),@W44X(7); standard; MUTATION;
Accession H0008
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 8
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Pneumonia, pharyngitis, splenomegaly, myelodysplasia,
Symptoms extramedullary hematopoiesis
Sex XY
Ethnic origin Caucasoid; Turkey
Comment Absolute neutrophil count before G-CSF therapy: 0-63. CSFR3
Comment mutation 2423C>T 11 months after G-CSF.
//
ID @W44X(8),@W44X(8); standard; MUTATION;
Accession H0009
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 9
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Septicemia, skin abscess
Sex XY
Ethnic origin Caucasoid; Turkey
Comment Absolute neutrophil count before G-CSF therapy: 61
//
ID @W44X(9),@W44X(9); standard; MUTATION;
Accession H0010
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 10
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Sex XY
Ethnic origin Caucasoid; Turkey (Kurdish)
Comment Absolute neutrophil count before G-CSF therapy: 242
//
ID @W44X(10),@W44X(10); standard; MUTATION;
Accession H0011
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 11
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Sex XX
Ethnic origin Caucasoid; Turkey (Kurdish)
Comment Absolute neutrophil count before G-CSF therapy: 0-1,050
//
ID @W44X(11),@W44X(11); standard; MUTATION;
Accession H0012
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 12
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Skin abscess, pneumonia, oral ulcers
Sex XX
Ethnic origin Caucasoid; Iran
Comment Absolute neutrophil count before G-CSF therapy: 248
//
ID @W44X(12),@W44X(12); standard; MUTATION;
Accession H0013
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 13
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Omphalitis, skin abscess, oral ulcers, urinary tract
Symptoms infections, pneumonia, otitis
Sex XY
Ethnic origin Caucasoid; Iran
Comment Absolute neutrophil count before G-CSF therapy: 608
//
ID @W44X(13),@W44X(13); standard; MUTATION;
Accession H0015
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 15
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Splenomegaly, lymphadenopathy
Sex XY
Ethnic origin Caucasoid; Turkey
Comment Absolute neutrophil count before G-CSF therapy: 268
//
ID @W44X(14),@W44X(14); standard; MUTATION;
Accession H0016
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 16
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Gingivitis, pneumonia, otitis
Sex XX
Ethnic origin Caucasoid; Turkey
Comment Absolute neutrophil count before G-CSF therapy: 200
//
ID @W44X(15),@W44X(15); standard; MUTATION;
Accession H0017
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 17
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Otitis, enteritis, bronchitis, splenomegaly
Sex XX
Ethnic origin Caucasoid; Lebanon
Comment Absolute neutrophil count before G-CSF therapy: 0-270
//
ID @W44X(16),@W44X(16); standard; MUTATION;
Accession H0018
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 18
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Omphalitis, bronchitis
Sex XX
Ethnic origin Caucasoid; Turkey
Comment Absolute neutrophil count before G-CSF therapy: 100-500
//
ID @W44X(17),@W44X(17); standard; MUTATION;
Accession H0019
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 19
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Pneumonia, skin abscess, septicemia
Sex XY
Ethnic origin Caucasoid; Lebanon
Comment Absolute neutrophil count before G-CSF therapy: 100-500.
Comment 46,XY,t(5;9)(q12;p22) in myeloid cells. CSFR3 mutations
Comment 2423C>T and 2399C>T 13 yrs after G-CSF.
//
ID @W44X(18),@W44X(18); standard; MUTATION;
Accession H0020
Systematic name Allele 1 and 2: g.1902_1903insA, c.130_131insA,
Systematic name r.130_131insa, p.Trp44X
Original code Individual 20
Description Allele 1 and 2: An insertion mutation in the exon 2 leading
Description to a premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1903
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 292
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 44
Feature /change: W -> X
Symptoms Otitis, muscular hypotonia
Sex XX
Ethnic origin Caucasoid; Turkey
Comment Absolute neutrophil count before G-CSF therapy: ND
//
ID @E59X78(1),@E59X78(1); standard; MUTATION;
Accession H0027
Systematic name Allele 1 and 2: g.1946_1947insC, c.174_175insC,
Systematic name r.174_175insc, p.Glu59fsX20
Original code P4
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 2 leading to a premature stop codon
Date 12-May-2008 (Rel. 1, Created)
Date 12-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18337561
RefAuthors Germeshausen, M., Grudzien, M., Zeidler, C., Abdollahpour,
RefAuthors H., Yetgin, S., Rezaei, N., Ballmaier, M., Grimbacher, B.,
RefAuthors Welte, K., Klein, C.
RefTitle Novel HAX1 mutations in patients with severe congenital
RefTitle neutropenia reveal isoform-dependent genotype-phenotype
RefTitle associations.
RefLoc Blood:4954-4957 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1947
Feature /change: +c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 336
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 59
Feature /change: E -> RGIWLRLQLQ PRRRDTFPRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0121: 1947
Feature /change: +c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 336
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 59
Feature /change: E -> RGIWLRLQLQ PRRRDTFPRX
Ethnic origin Caucasoid; Iran
//
ID #E60X84(1),#E60X84(1); standard; MUTATION;
Accession H0024
Systematic name Allele 1 and 2: g.1952delA, c.180delA, r.180dela,
Systematic name p.Glu60fsX25
Original code P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 09-May-2008 (Rel. 1, Created)
Date 09-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18337561
RefAuthors Germeshausen, M., Grudzien, M., Zeidler, C., Abdollahpour,
RefAuthors H., Yetgin, S., Rezaei, N., Ballmaier, M., Grimbacher, B.,
RefAuthors Welte, K., Klein, C.
RefTitle Novel HAX1 mutations in patients with severe congenital
RefTitle neutropenia reveal isoform-dependent genotype-phenotype
RefTitle associations.
RefLoc Blood (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0121: 1952
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 341
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 60
Feature /change: E -> DLASASASAQ EEGYVSTITS ALMTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0121: 1952
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 341
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 60
Feature /change: E -> DLASASASAQ EEGYVSTITS ALMTX
Age 0
Ethnic origin Caucasoid; Turkey
//
ID R86X(1),R86X(1); standard; MUTATION;
Accession H0014
Systematic name Allele 1 and 2: g.2028C>T, c.256C>T, r.256c>u, p.Arg86X
Original code Individual 14
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 10-Jan-2007 (Rel. 1, Created)
Date 10-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121: 417
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121: 417
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
Symptoms Skin abscess, otitis media, pneumonia, oral ulcers, failure
Symptoms to thrive
Sex XX
Ethnic origin Caucasoid; Iran
Comment Absolute neutrophil count before G-CSF therapy: 270
//
ID R86X(2),R86X(2); standard; MUTATION;
Accession H0028
Systematic name Allele 1 and 2: g.2028C>T, c.256C>T, r.256c>u, p.Arg86X
Original code patient ref.[1]; P.1 ref.[2]
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 12-May-2008 (Rel. 1, Created)
Date 21-Jul-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 18055975
RefAuthors Matsubara, K., Imai, K., Okada, S., Miki, M., Ishikawa,
RefAuthors N., Tsumura, M., Kato, T., Ohara, O., Nonoyama, S.,
RefAuthors Kobayashi, M.
RefTitle Severe developmental delay and epilepsy in a japanese
RefTitle patient with severe congenital neutropenia due to HAX1
RefTitle deficiency.
RefLoc Haematologica:e123-125 (2007)
RefNumber [2]
RefCrossRef PUBMED; 18611981
RefAuthors Ishikawa, N., Okada, S., Miki, M., Shirao, K., Kihara, H.,
RefAuthors Tsumura, M., Nakamura, K., Kawaguchi, H., Ohtsubo, M.,
RefAuthors Yasunaga, S., Matsubara, K., Sako, M., Hara, J., Shiohara,
RefAuthors M., Kojima, S., Sato, T., Takihara, Y., Kobayashi, M.
RefTitle Neurodevelopmental abnormalities associated with severe
RefTitle congenital neutropenia due to the R86X mutation in the
RefTitle HAX1 gene.
RefLoc J Med Genet:802-807 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121; GI:66363692; HAX1C: 417
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121; GI:66363692; HAX1C: 417
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
Symptoms Severe developmental delay and epilepsy.
Age 2 mo
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
WBC 11.400 /ml
Neutrophil 0 /ml
Treatment Granulocyte colony stimulating factor
//
ID R86X(3),R86X(3); standard; MUTATION;
Accession H0029
Systematic name Allele 1 and 2: g.2028C>T, c.256C>T, r.256c>u, p.Arg86X
Original code P.2
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 21-Jul-2010 (Rel. 1, Created)
Date 21-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18611981
RefAuthors Ishikawa, N., Okada, S., Miki, M., Shirao, K., Kihara, H.,
RefAuthors Tsumura, M., Nakamura, K., Kawaguchi, H., Ohtsubo, M.,
RefAuthors Yasunaga, S., Matsubara, K., Sako, M., Hara, J., Shiohara,
RefAuthors M., Kojima, S., Sato, T., Takihara, Y., Kobayashi, M.
RefTitle Neurodevelopmental abnormalities associated with severe
RefTitle congenital neutropenia due to the R86X mutation in the
RefTitle HAX1 gene.
RefLoc J Med Genet:802-807 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121; GI:66363692; HAX1C: 417
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121; GI:66363692; HAX1C: 417
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
Symptoms Developmental delay; Epilepsy;
Age 7 mo
Sex XX
Ethnic origin Japan
WBC 10.200 /ml
Neutrophil 0.510 /ml
Treatment Stem cell transplants
//
ID R86X(4),R86X(4); standard; MUTATION;
Accession H0030
Systematic name Allele 1 and 2: g.2028C>T, c.256C>T, r.256c>u, p.Arg86X
Original code P.3
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 21-Jul-2010 (Rel. 1, Created)
Date 21-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18611981
RefAuthors Ishikawa, N., Okada, S., Miki, M., Shirao, K., Kihara, H.,
RefAuthors Tsumura, M., Nakamura, K., Kawaguchi, H., Ohtsubo, M.,
RefAuthors Yasunaga, S., Matsubara, K., Sako, M., Hara, J., Shiohara,
RefAuthors M., Kojima, S., Sato, T., Takihara, Y., Kobayashi, M.
RefTitle Neurodevelopmental abnormalities associated with severe
RefTitle congenital neutropenia due to the R86X mutation in the
RefTitle HAX1 gene.
RefLoc J Med Genet:802-807 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121; GI:66363692; HAX1C: 417
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2028
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: C0121; GI:66363692; HAX1C: 417
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 86
Feature /change: R -> X
Symptoms Developmental delay; Epilepsy;
Age 4 mo
Sex XX
Ethnic origin Japan
WBC 9.600 /ml
Neutrophil 0.96 /ml
Treatment Granulocyte colony stimulating factor
//
ID #Q123X126(1),#Q123X126(1); standard; MUTATION;
Accession H0026
Systematic name Allele 1 and 2: g.2315_2328delAGACACTTCGGGAC,
Systematic name c.368_381delAGACACTTCGGGAC, r.368_381delagacacuucgggac,
Systematic name p.Gln123fsX4
Original code P3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 12-May-2008 (Rel. 1, Created)
Date 12-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18337561
RefAuthors Germeshausen, M., Grudzien, M., Zeidler, C., Abdollahpour,
RefAuthors H., Yetgin, S., Rezaei, N., Ballmaier, M., Grimbacher, B.,
RefAuthors Welte, K., Klein, C.
RefTitle Novel HAX1 mutations in patients with severe congenital
RefTitle neutropenia reveal isoform-dependent genotype-phenotype
RefTitle associations.
RefLoc Blood:4954-4957 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0121: 2315..2328
Feature /change: -agacacttcg ggac
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 529..542
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 123..127
Feature /change: QTLRD -> LNAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0121: 2315..2328
Feature /change: -agacacttcg ggac
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 529..542
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 123..127
Feature /change: QTLRD -> LNAX
Age 0
Ethnic origin Caucasoid; Turkey
Comment Death at 8 months
//
ID L130R(1),@V144X148(2); standard; MUTATION;
Accession H0034
Systematic name Allele 1: g.2336T>G, c.389T>G, r.389u>g, p.Leu130Arg
Systematic name Allele 2: g.2377dupG, c.430dupG, r.430dupg, p.Val144fsX5
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: A frame shift duplication mutation in the exon 3
Description leading to a premature stop codon
Date 22-Jul-2010 (Rel. 1, Created)
Date 22-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20065084
RefAuthors Lanciotti, M., Indaco, S., Bonanomi, S., Coliva, T.,
RefAuthors Mastrodicasa, E., Caridi, G., Calvillo, M., Dufour, C.
RefTitle Novel HAX1 gene mutations associated to neurodevelopment
RefTitle abnormalities in two italian patients with severe
RefTitle congenital neutropenia.
RefLoc Haematologica:168-169 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2336
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 550
Feature /codon: ctt -> cgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 130
Feature /change: L -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0121: 2378
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 592
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 144
Feature /change: V -> GLGEX
Symptoms Recurrent infections; Persistent neutropenia;
Symptoms Hypereosinophilia
Age 4
Sex XY
Ethnic origin Italy
//
ID V144G(2),L130R(2); standard; MUTATION;
Accession H0038
Systematic name Allele 1: g.2378T>G, c.431T>G, r.431u>g, p.Val144Gly
Systematic name Allele 2: g.2336T>G, c.389T>G, r.389u>g, p.Leu130Arg
Original code P4
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 3 leading to an
Description amino acid change
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20220065
RefAuthors Germeshausen, M., Zeidler, C., Stuhrmann, M., Lanciotti,
RefAuthors M., Ballmaier, M., Welte, K.
RefTitle Digenic mutations in severe congenital neutropenia.
RefLoc Haematologica:1207-1210 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2378
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 592
Feature /codon: gtc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 144
Feature /change: V -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2336
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 550
Feature /codon: ctt -> cgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 130
Feature /change: L -> R
Symptoms Neutropenia; Neurodevelopmental abnormalities;
Age 5
Sex XY
Ethnic origin Caucasoid
Comment Mutation is present also in the G6PC3 gene of the patient.
//
ID Q137X(1),Q137X(1); standard; MUTATION;
Accession H0035
Systematic name Allele 1 and 2: g.2356C>T, c.409C>T, r.409c>u, p.Gln137X
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 22-Jul-2010 (Rel. 1, Created)
Date 22-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20065084
RefAuthors Lanciotti, M., Indaco, S., Bonanomi, S., Coliva, T.,
RefAuthors Mastrodicasa, E., Caridi, G., Calvillo, M., Dufour, C.
RefTitle Novel HAX1 gene mutations associated to neurodevelopment
RefTitle abnormalities in two italian patients with severe
RefTitle congenital neutropenia.
RefLoc Haematologica:168-169 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2356
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 570
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 137
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2356
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 570
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 137
Feature /change: Q -> X
Symptoms Recurrent infections; Persistent neutropenia; Developmental
Symptoms delay; Myeloid dysplasia; Psychomotor retardation;
Age 7
Sex XY
Ethnic origin Italy
//
ID F141L(1a),F141L(1a); standard; MUTATION;
Accession H0032
Systematic name Allele 1 and 2: g.2368T>C, c.421T>C, r.421u>c, p.Phe141Leu
Original code IV-1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 22-Jul-2010 (Rel. 1, Created)
Date 22-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19796188
RefAuthors Faiyaz-Ul-Haque, M., Al-Jefri, A., Abalkhail, H. A.,
RefAuthors Toulimat, M., Al-Muallimi, M. A., Pulicat, M. S., Gaafar,
RefAuthors A., Alaiya, A. A., Al-Dayel, F., Peltekova, I., Zaidi, S.
RefAuthors H.
RefTitle A novel missense mutation in the HAX1 gene in severe
RefTitle congenital neutropenia patients (kostmann disease).
RefLoc Clin Genet:569-572 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2368
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 582
Feature /codon: ttt -> ctt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 141
Feature /change: F -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2368
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 582
Feature /codon: ttt -> ctt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 141
Feature /change: F -> L
Symptoms Ear infection; Skin abscesses; Agranulocytosis;
Age 6
Sex XX
Parents Consanguineous
Relative HAX1base; H0033 sister
//
ID F141L(1b),F141L(1b); standard; MUTATION;
Accession H0033
Systematic name Allele 1 and 2: g.2368T>C, c.421T>C, r.421u>c, p.Phe141Leu
Original code IV-2
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 22-Jul-2010 (Rel. 1, Created)
Date 22-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19796188
RefAuthors Faiyaz-Ul-Haque, M., Al-Jefri, A., Abalkhail, H. A.,
RefAuthors Toulimat, M., Al-Muallimi, M. A., Pulicat, M. S., Gaafar,
RefAuthors A., Alaiya, A. A., Al-Dayel, F., Peltekova, I., Zaidi, S.
RefAuthors H.
RefTitle A novel missense mutation in the HAX1 gene in severe
RefTitle congenital neutropenia patients (kostmann disease).
RefLoc Clin Genet:569-572 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2368
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 582
Feature /codon: ttt -> ctt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 141
Feature /change: F -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2368
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 582
Feature /codon: ttt -> ctt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 141
Feature /change: F -> L
Symptoms Perianal rash; Skin abscesses; Hepatosplenomegaly;
Age 3
Sex XX
Parents Consanguineous
Relative HAX1base; H0032 sister
//
ID V144G(1),V144G(1); standard; MUTATION;
Accession H0037
Systematic name Allele 1 and 2: g.2378T>G, c.431T>G, r.431u>g, p.Val144Gly
Original code P2
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20220065
RefAuthors Germeshausen, M., Zeidler, C., Stuhrmann, M., Lanciotti,
RefAuthors M., Ballmaier, M., Welte, K.
RefTitle Digenic mutations in severe congenital neutropenia.
RefLoc Haematologica:1207-1210 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2378
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 592
Feature /codon: gtc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 144
Feature /change: V -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 2378
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 592
Feature /codon: gtc -> ggc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 144
Feature /change: V -> G
Symptoms Recurrent infections
Age 0.5
Sex XX
Ethnic origin Saudi Arabia
Comment Mutation is present also in the ELANE gene of the patient.
Comment ELA2base; E0159;
//
ID @V144X148(1),@V144X148(1); standard; MUTATION;
Accession H0025
Systematic name Allele 1 and 2: g.2377dupG, c.430dupG, r.430dupg,
Systematic name p.Val144fsX5
Original code P2
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 09-May-2008 (Rel. 1, Created)
Date 09-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18337561
RefAuthors Germeshausen, M., Grudzien, M., Zeidler, C., Abdollahpour,
RefAuthors H., Yetgin, S., Rezaei, N., Ballmaier, M., Grimbacher, B.,
RefAuthors Welte, K., Klein, C.
RefTitle Novel HAX1 mutations in patients with severe congenital
RefTitle neutropenia reveal isoform-dependent genotype-phenotype
RefTitle associations.
RefLoc Blood (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0121: 2378
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 592
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 144
Feature /change: V -> GLGEX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0121: 2378
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 592
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 144
Feature /change: V -> GLGEX
Symptoms Mental and psychomotor retardation, seizures.
Age 0
Ethnic origin Caucasoid; Turkey
//
ID @Q155X168(1),@Q155X168(1); standard; MUTATION;
Accession H0036
Systematic name Allele 1 and 2: g.2410dupC, c.463dupC, r.463dupc,
Systematic name p.Gln155fsX14
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon
Date 22-Jul-2010 (Rel. 1, Created)
Date 22-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20182745
RefAuthors Faiyaz-Ul-Haque, M., Al-Jefri, A., Al-Dayel, F., Bhuiyan,
RefAuthors J. A., Abalkhail, H. A., Al-Nounou, R., Al-Abdullatif, A.,
RefAuthors Pulicat, M. S., Gaafar, A., Alaiya, A. A., Peltekova, I.,
RefAuthors Zaidi, S. H.
RefTitle A novel HAX1 gene mutation in severe congenital
RefTitle neutropenia (SCN) associated with neurological
RefTitle manifestations.
RefLoc Eur J Pediatr:661-666 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0121: 2411
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 625
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 155
Feature /change: Q -> PTSTRLGLPE AISX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0121: 2411
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 625
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 155
Feature /change: Q -> PTSTRLGLPE AISX
Symptoms Recurrent skin abscesses; Cervical lymphadenopathy; Oral
Symptoms ulcers;
Age 2
Sex XY
Ethnic origin Saudi Arab
Parents Consanguineous
Comment Patient's sister died of acute febrile illness at the age
Comment of 6 months.
//
ID V172I(1),=; standard; MUTATION;
Accession H0039
Systematic name Allele 1: g.3449G>A, c.514G>A, r.514g>a, p.Val172Ile
Original code P3
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20220065
RefAuthors Germeshausen, M., Zeidler, C., Stuhrmann, M., Lanciotti,
RefAuthors M., Ballmaier, M., Welte, K.
RefTitle Digenic mutations in severe congenital neutropenia.
RefLoc Haematologica:1207-1210 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3449
Feature /change: g -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0121; GI:66363692; HAX1C: 675
Feature /codon: gta -> ata; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O00165; HAX1_HUMAN: 172
Feature /change: V -> I
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
Symptoms Neutropenia; Thrombocytopenia; Cryptoorchidism; Genital
Symptoms dysplasia; Microcephaly; Inner-ear hearing loss;
Symptoms Hypogammaglobulinemia; Type II atrial septal defect;
Symptoms prominent superficial venous pattern
Age 20
Sex XY
Ethnic origin Caucasoid
Comment Mutation is present also in the G6PC3 gene of the patient.
//
ID Q190X(1a),Q190X(1a); standard; MUTATION;
Accession H0021
Systematic name Allele 1 and 2: g.3655C>T, c.568C>T, r.568c>u, p.Gln190X
Original code Individual 21(Ref[1]); Patient 1(Ref[2])
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
RefNumber [2]
RefCrossRef PUBMED; 11519978
RefAuthors Carlsson, G., Fasth, A.
RefTitle Infantile genetic agranulocytosis, morbus kostmann:
RefTitle presentation of six cases from the original 'kostmann
RefTitle family' and a review.
RefLoc Acta Paediatr:757-764 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3655
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 729
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 190
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3655
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 729
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 190
Feature /change: Q -> X
Symptoms Skin abscess, pneumonia, gingivitis, septicemia
Sex XX
Ethnic origin Caucasoid; Sweden
Relative HAX1base; H0022
Relative HAX1base; H0023
Comment Patient is from the original Kostmann family. Absolute
Comment neutrophil count before G-CSF therapy: 0-400. Patient died
Comment (12 yrs old) of an overwhelming septic infection with
Comment peritonitis and pneumonia complicated by kidney failure and
Comment septic shock
//
ID Q190X(1b),Q190X(1b); standard; MUTATION;
Accession H0022
Systematic name Allele 1 and 2: g.3655C>T, c.568C>T, r.568c>u, p.Gln190X
Original code Individual 22(Ref[1]); Patient 4(Ref[2])
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
RefNumber [2]
RefCrossRef PUBMED; 11519978
RefAuthors Carlsson, G., Fasth, A.
RefTitle Infantile genetic agranulocytosis, morbus kostmann:
RefTitle presentation of six cases from the original 'kostmann
RefTitle family' and a review.
RefLoc Acta Paediatr:757-764 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3655
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 729
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 190
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3655
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 729
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 190
Feature /change: Q -> X
Symptoms Otitis, skin abscess, gingivitis, septicemia
Sex XX
Ethnic origin Caucasoid; Sweden
Relative HAX1base; H0021
Relative HAX1base; H0023
Comment Patient is from the original Kostmann family. Absolute
Comment neutrophil count before G-CSF therapy: 0-270
//
ID Q190X(1c),Q190X(1c); standard; MUTATION;
Accession H0023
Systematic name Allele 1 and 2: g.3655C>T, c.568C>T, r.568c>u, p.Gln190X
Original code Individual 23(Ref[1]); Patient 5(Ref[2])
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 12-Jan-2007 (Rel. 1, Created)
Date 12-Jan-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17187068
RefAuthors Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Boztug, K.,
RefAuthors Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson,
RefAuthors G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J. I.,
RefAuthors Zeidler, C., Grimbacher, B., Welte, K.
RefTitle HAX1 deficiency causes autosomal recessive severe
RefTitle congenital neutropenia (kostmann disease).
RefLoc Nat Genet:86-92 (2007)
RefNumber [2]
RefCrossRef PUBMED; 11519978
RefAuthors Carlsson, G., Fasth, A.
RefTitle Infantile genetic agranulocytosis, morbus kostmann:
RefTitle presentation of six cases from the original 'kostmann
RefTitle family' and a review.
RefLoc Acta Paediatr:757-764 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3655
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 729
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 190
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0121: 3655
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0121: 729
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00165; HAX1_HUMAN: 190
Feature /change: Q -> X
Symptoms Skin abscess, paronychia
Sex XY
Ethnic origin Caucasoid; Sweden
Relative HAX1base; H0021
Relative HAX1base; H0022
Comment Patient is from the original Kostmann family. Absolute
Comment neutrophil count before G-CSF therapy: 0-600
//
|
