Database CXCR4base
Version 1.0
File cxcr4pub.txt
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/CXCR4base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF7.html
Gene CXCR4
Disease WHIM syndrome
OMIM 193670
GDB 230002
Sequence IDRefSeq:D0023; IDRefSeq:C0023; UniProt:P30991
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R334X(1a); standard; MUTATION; CP4
Accession C0001
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code A-I-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0002 son
Relative CXCR4base; C0003 son
Relative CXCR4base; C0004 daughter
Relative CXCR4base; C0005 granddaughter
Relative CXCR4base; C0006 grandson
Relative Other affected family members: Yes
//
ID R334X(1b); standard; MUTATION; CP4
Accession C0002
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code A-II-4
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XY
Relative CXCR4base; C0001 mother
Relative CXCR4base; C0003 brother
Relative CXCR4base; C0004 sister
Relative CXCR4base; C0005 nephew
Relative CXCR4base; C0006 nephew
Relative Other affected family members: Yes
//
ID R334X(1c); standard; MUTATION; CP4
Accession C0003
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code A-II-5
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XY
Relative CXCR4base; C0001 mother
Relative CXCR4base; C0002 brother
Relative CXCR4base; C0004 sister
Relative CXCR4base; C0005 daughter
Relative CXCR4base; C0006 nephew
Relative Other affected family members: Yes
//
ID R334X(1d); standard; MUTATION; CP4
Accession C0004
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code A-II-7
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0001 mother
Relative CXCR4base; C0002 brother
Relative CXCR4base; C0003 brother
Relative CXCR4base; C0005 nephew
Relative CXCR4base; C0006 son
Relative Other affected family members: Yes
//
ID R334X(1e); standard; MUTATION; CP4
Accession C0005
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code A-III-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0001 grandmother
Relative CXCR4base; C0002 uncle
Relative CXCR4base; C0003 father
Relative CXCR4base; C0004 aunt
Relative CXCR4base; C0006 cousin
Relative Other affected family members: Yes
//
ID R334X(1f); standard; MUTATION; CP4
Accession C0006
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code A-III-3
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XY
Relative CXCR4base; C0001 grandmother
Relative CXCR4base; C0002 uncle
Relative CXCR4base; C0003 uncle
Relative CXCR4base; C0004 mother
Relative CXCR4base; C0005 cousin
Relative Other affected family members: Yes
//
ID R334X(2a); standard; MUTATION; CP4
Accession C0007
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code C-II-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0008 sister
Relative CXCR4base; C0009 daughter
Relative Other affected family members: Yes
//
ID R334X(2b); standard; MUTATION; CP4
Accession C0008
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code C-II-3
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0007 sister
Relative CXCR4base; C0009 nephew
Relative Other affected family members: Yes
//
ID R334X(2c); standard; MUTATION; CP4
Accession C0009
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code C-III-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0007 mother
Relative CXCR4base; C0008 aunt
Relative Other affected family members: Yes
//
ID R334X(3a); standard; MUTATION; CP4
Accession C0010
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code D-I-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0011 son
Relative Other affected family members: Yes
//
ID R334X(3b); standard; MUTATION; CP4
Accession C0011
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code D-II-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XY
Relative CXCR4base; C0010 mother
Relative Other affected family members: Yes
//
ID R334X(4a); standard; MUTATION; CP4
Accession C0012
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code G-II-2
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0013 sister
Relative Other affected family members: Yes
//
ID R334X(4b); standard; MUTATION; CP4
Accession C0013
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code G-II-3
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0012 sister
Relative Other affected family members: Yes
//
ID R334X(5); standard; MUTATION; CP4
Accession C0019
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code P1
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 27-Jul-2004 (Rel. 3, Created)
Date 27-Jul-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15026312
RefAuthors Gulino, A. V., Moratto, D., Sozzani, S., Cavadini, P.,
RefAuthors Otero, K., Tassone, L., Imberti, L., Pirovano, S.,
RefAuthors Notarangelo, L. D., Soresina, R., Mazzolari, E., Nelson,
RefAuthors D. L., Notarangelo, L. D., Badolato, R.
RefTitle Altered leukocyte response to CXCL12 in patients with
RefTitle warts hypogammaglobulinemia, infections,
RefTitle myelokathexis (WHIM) syndrome.
RefLoc Blood 104:444-452 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Sex XX
Status quo Alive
Symptoms Other clinical features: Patient was born with Fallot
Symptoms tetralogy, which was surgically corrected at 2 years of
Symptoms age, 3 episodes of pneumonia
//
ID R334X(6); standard; MUTATION; CP4
Accession C0024
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code 52-year-old woman
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 11-Jan-2006 (Rel. 1, Created)
Date 11-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16275383
RefAuthors Tarzi, M. D., Jenner, M., Hattotuwa, K., Faruqi, A. Z.,
RefAuthors Diaz, G. A., Longhurst, H. J.
RefTitle Sporadic case of warts, hypogammaglobulinemia,
RefTitle immunodeficiency, and myelokathexis syndrome.
RefLoc J Allergy Clin Immunol 116:1101-1105 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Sex XX
Ethnic origin Caucasoid; British
//
ID R334X(7); standard; MUTATION; CP4
Accession C0027
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 23-Jun-2010 (Rel. 1, Created)
Date 23-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19476565
RefAuthors Takaya, J., Fujii, Y., Higashino, H., Taniuchi, S.,
RefAuthors Nakamura, M., Kaneko, K.
RefTitle A case of WHIM syndrome associated with diabetes and
RefTitle hypothyroidism.
RefLoc Pediatr Diabetes:484-486 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023; GI:4503174; CXCR4C: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Diagnosis WHIM syndrome and diabetes
Symptoms myelokathexis, recurrent respiratory infections
Symptoms polydipsia and polyuria
Age 5.6
Sex XX
Ethnic origin Japan
Relative twin sister is affected with WHIM syndrome
//
ID R334X(8); standard; MUTATION; CP4
Accession C0029
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code P1
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19321197
RefAuthors Tassone, L., Notarangelo, L. D., Bonomi, V., Savoldi, G.,
RefAuthors Sensi, A., Soresina, A., Smith, C. I., Porta, F., Plebani,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Clinical and genetic diagnosis of warts,
RefTitle hypogammaglobulinemia, infections, and myelokathexis
RefTitle syndrome in 10 patients.
RefLoc J Allergy Clin Immunol:1170-3, 1173.e1-1173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023; GI:4503174; CXCR4C: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms Recurrent respiratory tract infections; Myelokathexis;
Symptoms Neutropenia; Lymphopenia; Tetralogy of fallot;
Age 7
//
ID R334X(9); standard; MUTATION; CP4
Accession C0030
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code P4
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19321197
RefAuthors Tassone, L., Notarangelo, L. D., Bonomi, V., Savoldi, G.,
RefAuthors Sensi, A., Soresina, A., Smith, C. I., Porta, F., Plebani,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Clinical and genetic diagnosis of warts,
RefTitle hypogammaglobulinemia, infections, and myelokathexis
RefTitle syndrome in 10 patients.
RefLoc J Allergy Clin Immunol:1170-3, 1173.e1-1173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023; GI:4503174; CXCR4C: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms Myelokathexis; Neutropenia; Lymphopenia; Bronchopneumonia;
Age 14
//
ID R334X(10); standard; MUTATION; CP4
Accession C0031
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code P10
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19321197
RefAuthors Tassone, L., Notarangelo, L. D., Bonomi, V., Savoldi, G.,
RefAuthors Sensi, A., Soresina, A., Smith, C. I., Porta, F., Plebani,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Clinical and genetic diagnosis of warts,
RefTitle hypogammaglobulinemia, infections, and myelokathexis
RefTitle syndrome in 10 patients.
RefLoc J Allergy Clin Immunol:1170-3, 1173.e1-1173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023; GI:4503174; CXCR4C: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms Warts; Neutropenia; Lymphopenia; Bronchopneumonia; Otitis
Symptoms media; Varicella; Recurrent respiratory tract infections;
Age 9
//
ID R334X(11); standard; MUTATION; CP4
Accession C0032
Systematic name g.4169C>T, c.1000C>T, r.1000c>u, p.Arg334X
Original code P6
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19321197
RefAuthors Tassone, L., Notarangelo, L. D., Bonomi, V., Savoldi, G.,
RefAuthors Sensi, A., Soresina, A., Smith, C. I., Porta, F., Plebani,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Clinical and genetic diagnosis of warts,
RefTitle hypogammaglobulinemia, infections, and myelokathexis
RefTitle syndrome in 10 patients.
RefLoc J Allergy Clin Immunol:1170-3, 1173.e1-1173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4169
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: C0023; GI:4503174; CXCR4C: 1088
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 334
Feature /change: R -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms Myelokathexis; Neutropenia; Lymphopenia;
Symptoms Hypogammaglobulinemia; Enteritis; Recurrent respiratory
Symptoms tract infections; Iodopathic mental retardation;
Age 4.5
//
ID G336X(1a); standard; MUTATION; CP4
Accession C0020
Systematic name g.4175G>T, c.1006G>T, r.1006g>u, p.Gly336X
Original code P2
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 27-Jul-2004 (Rel. 3, Created)
Date 27-Jul-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15026312
RefAuthors Gulino, A. V., Moratto, D., Sozzani, S., Cavadini, P.,
RefAuthors Otero, K., Tassone, L., Imberti, L., Pirovano, S.,
RefAuthors Notarangelo, L. D., Soresina, R., Mazzolari, E., Nelson,
RefAuthors D. L., Notarangelo, L. D., Badolato, R.
RefTitle Altered leukocyte response to CXCL12 in patients with
RefTitle warts hypogammaglobulinemia, infections,
RefTitle myelokathexis (WHIM) syndrome.
RefLoc Blood 104:444-452 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4175
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023: 1094
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 336
Feature /change: G -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0021 mother
Status quo Alive
Symptoms Other clinical features: leukopenia, bacterial meningitis
Symptoms at 1 year of age
//
ID G336X(1b); standard; MUTATION; CP4
Accession C0021
Systematic name g.4175G>T, c.1006G>T, r.1006g>u, p.Gly336X
Original code P3
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 27-Jul-2004 (Rel. 3, Created)
Date 27-Jul-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15026312
RefAuthors Gulino, A. V., Moratto, D., Sozzani, S., Cavadini, P.,
RefAuthors Otero, K., Tassone, L., Imberti, L., Pirovano, S.,
RefAuthors Notarangelo, L. D., Soresina, R., Mazzolari, E., Nelson,
RefAuthors D. L., Notarangelo, L. D., Badolato, R.
RefTitle Altered leukocyte response to CXCL12 in patients with
RefTitle warts hypogammaglobulinemia, infections,
RefTitle myelokathexis (WHIM) syndrome.
RefLoc Blood 104:444-452 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4175
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023: 1094
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 336
Feature /change: G -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0020 daughter
Status quo Alive
Symptoms Other clinical features: recurrent respiratory infections
Symptoms and one episode of meningitis at the age of 24 years
//
ID S338X(1a); standard; MUTATION; CP4
Accession C0022
Systematic name g.4182C>G, c.1013C>G, r.1013c>g, p.Ser338X
Original code P1
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Mar-2005 (Rel. 3, Created)
Date 03-Mar-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15536153
RefAuthors Balabanian, K., Lagane, B., Pablos, J. L., Laurent, L.,
RefAuthors Planchenault, T., Verola, O., Lebbe, C., Kerob, D., Dupuy,
RefAuthors A., Hermine, O., Nicolas, J. F., Latger-Cannard, V.,
RefAuthors Bensoussan, D., Bordigoni, P., Baleux, F., Le Deist, F.,
RefAuthors Virelizier, J. L., Arenzana-Seisdedos, F., Bachelerie, F.
RefTitle WHIM syndromes with different genetic anomalies are
RefTitle accounted for by impaired CXCR4 desensitization to CXCL12.
RefLoc Blood 105: 2449-2457 (2005).
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4182
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023: 1101
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 338
Feature /change: S -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0023 brother
Symptoms Other clinical features: disseminated, cutaneous warts
Symptoms caused by common serotypes of HPV, with anal and genital
Symptoms condylomata, sporatic genital infections by herpes viruses,
Symptoms frequent bacterial infections of the respiratory tract,
Symptoms isolated myelokathexis, leukopenia, profound neutropenia,
Symptoms global hypogammaglobulinemia, marked anemia,
Symptoms thrombocytopenia
//
ID S338X(1b); standard; MUTATION; CP4
Accession C0023
Systematic name g.4182C>G, c.1013C>G, r.1013c>g, p.Ser338X
Original code P2
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Mar-2005 (Rel. 3, Created)
Date 03-Mar-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15536153
RefAuthors Balabanian, K., Lagane, B., Pablos, J. L., Laurent, L.,
RefAuthors Planchenault, T., Verola, O., Lebbe, C., Kerob, D., Dupuy,
RefAuthors A., Hermine, O., Nicolas, J. F., Latger-Cannard, V.,
RefAuthors Bensoussan, D., Bordigoni, P., Baleux, F., Le Deist, F.,
RefAuthors Virelizier, J. L., Arenzana-Seisdedos, F., Bachelerie, F.
RefTitle WHIM syndromes with different genetic anomalies are
RefTitle accounted for by impaired CXCR4 desensitization to CXCL12.
RefLoc Blood 105: 2449-2457 (2005).
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4182
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023: 1101
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 338
Feature /change: S -> X
Feature /domain: CP4
Sex XY
Relative CXCR4base; C0022 sister
Symptoms Other clinical features: disseminated, cutaneous warts
Symptoms caused by common serotypes of HPV, with anal and genital
Symptoms condylomata, frequent bacterial infections of the
Symptoms respiratory tract, isolated myelokathexis, leukopenia,
Symptoms profound neutropenia, thrombocytopenia
//
ID S338X(2); standard; MUTATION; CP4
Accession C0026
Systematic name g.4182C>G, c.1013C>G, r.1013c>g, p.Ser338X
Original code 6.5-yr-old girl
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Apr-2007 (Rel. 1, Created)
Date 03-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17087743
RefAuthors Alapi, K., Erdos, M., Kovacs, G., Marodi, L.
RefTitle Recurrent CXCR4 sequence variation in a girl with WHIM
RefTitle syndrome.
RefLoc Eur J Haematol:86-88 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4182
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023: 1101
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 338
Feature /change: S -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms recurrent upper respiratory tract infections, six episodes
Symptoms of pneumonia, severe chronic neutropenia, lymphopenia,
Symptoms hypogammaglobulinemia
Sex XX
Family history De novo
//
ID S338X(3a); standard; MUTATION; CP4
Accession C0033
Systematic name g.4182C>G, c.1013C>G, r.1013c>g, p.Ser338X
Original code P7
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19321197
RefAuthors Tassone, L., Notarangelo, L. D., Bonomi, V., Savoldi, G.,
RefAuthors Sensi, A., Soresina, A., Smith, C. I., Porta, F., Plebani,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Clinical and genetic diagnosis of warts,
RefTitle hypogammaglobulinemia, infections, and myelokathexis
RefTitle syndrome in 10 patients.
RefLoc J Allergy Clin Immunol:1170-3, 1173.e1-1173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4182
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023; GI:4503174; CXCR4C: 1101
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 338
Feature /change: S -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms Warts; Myelokathexis; Neutropenia; Lymphopenia; Pneumonia;
Symptoms Genital condyloma acuminata;
Age 27
Relative CXCR4base; C0034
//
ID S338X(3b); standard; MUTATION; CP4
Accession C0034
Systematic name g.4182C>G, c.1013C>G, r.1013c>g, p.Ser338X
Original code P8
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19321197
RefAuthors Tassone, L., Notarangelo, L. D., Bonomi, V., Savoldi, G.,
RefAuthors Sensi, A., Soresina, A., Smith, C. I., Porta, F., Plebani,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Clinical and genetic diagnosis of warts,
RefTitle hypogammaglobulinemia, infections, and myelokathexis
RefTitle syndrome in 10 patients.
RefLoc J Allergy Clin Immunol:1170-3, 1173.e1-1173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4182
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023; GI:4503174; CXCR4C: 1101
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 338
Feature /change: S -> X
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms Warts; Neutropenia; Lymphoma;
Relative CXCR4base; C0033
//
ID #S339X342(1a); standard; MUTATION; CP4
Accession C0016
Systematic name g.4185_4186delCT, c.1016_1017delCT, r.1016_1017delcu,
Systematic name p.Ser339fsX4
Original code E-I-1
Description Deletion in the exon 2 leading to a premature stop codon
Description in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0023: 4185..4186
Feature /change: -ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0023:
Feature /loc: 1104..1105
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 339
Feature /change: S -> CFHX
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0017 son
Relative Other affected family members: Yes
//
ID #S339X342(1b); standard; MUTATION; CP4
Accession C0017
Systematic name g.4185_4186delCT, c.1016_1017delCT, r.1016_1017delcu,
Systematic name p.Ser339fsX4
Original code E-II-1
Description Deletion in the exon 2 leading to a premature stop codon
Description in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0023: 4185..4186
Feature /change: -ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0023:
Feature /loc: 1104..1105
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 339
Feature /change: S -> CFHX
Feature /domain: CP4
Sex XY
Relative CXCR4base; C0016 mother
Relative Other affected family members: Yes
//
ID #S339X342(2); standard; MUTATION; CP4
Accession C0025
Systematic name g.4185_4186delCT, c.1016_1017delCT, r.1016_1017delcu,
Systematic name p.Ser339fsX4
Original code 26-year-old woman
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the CP4 domain
Date 03-Apr-2007 (Rel. 1, Created)
Date 03-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16899028
RefAuthors Sanmun, D., Garwicz, D., Smith, C. I., Palmblad, J.,
RefAuthors Fadeel, B.
RefTitle Stromal-derived factor-1 abolishes constitutive apoptosis
RefTitle of WHIM syndrome neutrophils harbouring a truncating CXCR4
RefTitle mutation.
RefLoc Br J Haematol:640-644 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0023: 4185..4186
Feature /change: -ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0023: 1104..1105
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 339
Feature /change: S -> CFHX
Feature /domain: CP4
Diagnosis WHIM syndrome
Symptoms diarrhoea, neutropenia, repeated urinary tract infections,
Symptoms recurrent paranasal sinus and lung infections, persistent
Symptoms hypogammaglobulinaemia, recurrent upper and lower
Symptoms respiratory tract infections, persistent hand warts and
Symptoms myelokathexis
Sex XX
//
ID #S341X365(1); standard; MUTATION; CP4
Accession C0028
Systematic name g.4190delT, c.1021delT, r.1021delu, p.Ser341fsX25
Original code P5
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the CP4 domain
Date 23-Jun-2010 (Rel. 1, Created)
Date 23-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19321197
RefAuthors Tassone, L., Notarangelo, L. D., Bonomi, V., Savoldi, G.,
RefAuthors Sensi, A., Soresina, A., Smith, C. I., Porta, F., Plebani,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Clinical and genetic diagnosis of warts,
RefTitle hypogammaglobulinemia, infections, and myelokathexis
RefTitle syndrome in 10 patients.
RefLoc J Allergy Clin Immunol:1170-3, 1173.e1-1173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0023: 4190
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0023; GI:4503174; CXCR4C: 1109
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 341
Feature /change: S -> PLSLSLQVFT PANTDVKDFF LYDKX
Feature /domain: CP4
Diagnosis Warts, myelokathexis, neutropenia
Symptoms fever, osteitis
Age 15
//
ID E343X(1a); standard; MUTATION; CP4
Accession C0014
Systematic name g.4196G>T, c.1027G>T, r.1027g>u, p.Glu343X
Original code B-I-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4196
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023: 1115
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 343
Feature /change: E -> X
Feature /domain: CP4
Sex XX
Relative CXCR4base; C0015 son
Relative Other affected family members: Yes
//
ID E343X(1b); standard; MUTATION; CP4
Accession C0015
Systematic name g.4196G>T, c.1027G>T, r.1027g>u, p.Glu343X
Original code B-II-1
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the CP4 domain
Date 16-Apr-2003 (Rel. 3, Created)
Date 16-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12692554
RefAuthors Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi,
RefAuthors S., Bohinjec, J., Francois, F., Klotman, M. E., Diaz, G.
RefAuthors A.
RefTitle Mutations in the chemokine receptor gene CXCR4 are
RefTitle associated with WHIM syndrome, a combined
RefTitle immunodeficiency disease.
RefLoc Nat Genet 34(1):70-4 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0023: 4196
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0023: 1115
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P30991; CXCR4_HUMAN: 343
Feature /change: E -> X
Feature /domain: CP4
Sex XY
Relative CXCR4base; C0014 mother
Relative Other affected family members: Yes
//
|
