Database ITGB2base
Version 1.1
File itgb2pub.txt
Date 17-Sep-2014
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/ITGB2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF42.html
Gene ITGB2
Disease leukocyte adhesion deficiency (LAD-1)
OMIM 600065
GDB 120574
Sequence IDRefSeq:D0052; IDRefSeq:C0052; UniProt:P05107
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID M1K(1),#D690X714(3); standard; MUTATION; ,EC
Accession A0016
Systematic name Allele 1: g.11109T>A, c.2T>A, r.2u>a, p.Met1Lys
Systematic name Allele 2: g.33187delT, c.2142delT, p.D690fsX714
Original code SML
Description Allele 1: point mutation in the exon 2 leading to an amino
Description acid change
Description Allele 2: frameshift deletion in the exon 14 leading to a
Description premature stop codon in the EC domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1346132
RefAuthors Sligh, J. E., Hurwitz, M. Y., Zhu, C. M., Anderson, D. C.,
RefAuthors Beaudet, A. L.
RefTitle An initiation codon mutation in CD18 in association with
RefTitle the moderate phenotype of leukocyte adhesion deficiency.
RefLoc J Biol Chem 267:714-718 (1992)
RefNumber [2]
RefCrossRef PUBMED; 477036
RefAuthors Issekutz, A. C., Lee, K. Y., Biggar, W. D.
RefTitle Combined abnormality of neutrophil chemotaxis and
RefTitle bactericidal activity in a child with chronic skin
RefTitle infections.
RefLoc Clin Immunol Immunopathol 14:1-10 (1979)
RefNumber [3]
RefCrossRef PUBMED; 3555290
RefAuthors Anderson, D. C., Springer, T. A.
RefTitle Leukocyte adhesion deficiency: an inherited defect in the
RefTitle mac-1, LFA-1, and p150,95 glycoproteins.
RefLoc Annu Rev Med 38:175-194 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11109
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 74
Feature /codon: atg -> aag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 1
Feature /change: M -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 33187
Feature /change: -t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 2142
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 690
Feature /change: D -> ERAESVWQAP TSPPSSGAPW QASCX
Feature /domain: EC
Protein exp. 9% leukocytes
Symptoms moderate
Sex XY
Ethnic origin Caucasoid; Hispanic
Parents Non-consanguineous
Relative Description of pedigree:Allele 1: inherited (maternal),
Relative allele 2: inherited (paternal)
//
ID #L17X49(1),#L17X49(1); standard; MUTATION;
Accession A0086
Systematic name Allele 1 and 2: g.11156delC, c.49delC, r.49delc,
Systematic name p.Leu17fsX33
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11156
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 121
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 17
Feature /change: L -> SGASSLRSAR SSRSAAAGNA SSRGPAAPGA RSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11156
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 121
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 17
Feature /change: L -> SGASSLRSAR SSRSAAAGNA SSRGPAAPGA RSX
//
ID #S22X57(1a),Intron 6/R586W(2a); standard; MUTATION;
ID CYS4
Accession A0028
Systematic name Allele 1: g.11525_11526delTC, c.66_67delTC, r.66_67deluc,
Systematic name p.Gln23fsX35
Systematic name Allele 2: g.[IVS6-14C>A + 32493C>T], c. [813_814ins +
Systematic name 1756C>T], p. [p.P247_E248insPSSQ + Arg586Trp]
Original code Patient E
Description Allele 1: deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: point mutation in the intron 6 leading to
Description an amino acid change and point mutation in the exon 13
Description leading to an amino acid change in the CYS4 domain
Date 19-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7705401
RefAuthors Wright, A. H., Douglass, W. A., Taylor, G. M., Lau, Y. L.,
RefAuthors Higgins, D., Davies, K. A., Law, S. K.
RefTitle Molecular characterization of leukocyte adhesion
RefTitle deficiency in six patients.
RefLoc Eur J Immunol 25:717-722 (1995)
RefNumber [2]
RefCrossRef PUBMED; 3899217
RefAuthors Ross, G. D., Thompson, R. A., Walport, M. J., Springer, T.
RefAuthors A., Watson, J. V., Ward, R. H., Lida, J., Newman, S. L.,
RefAuthors Harrison, R. A., Lachmann, P. J.
RefTitle Characterization of patients with an increased
RefTitle susceptibility to bacterial infections and a genetic
RefTitle deficiency of leukocyte membrane complement receptor type
RefTitle 3 and the related membrane antigen LFA-1.
RefLoc Blood 66:882-890 (1985)
RefNumber [3]
RefCrossRef PUBMED; 1346613
RefAuthors Nelson, C., Rabb, H., Arnaout, M. A.
RefTitle Genetic cause of leukocyte adhesion molecule deficiency.
RefTitle abnormal splicing and a missense mutation in a conserved
RefTitle region of CD18 impair cell surface expression of beta 2
RefTitle integrins.
RefLoc J Biol Chem 267:3351-3357 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11525..11526
Feature /change: -tc
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 138..139
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 22..23
Feature /change: SQ -> SGVHEVQGQQ LPGMHRVGAR LHLVPEAELH RAGGSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21401
Feature /change: c -> a
Feature /genomic_region: intron; 6
Feature dna; 5
Feature /rnalink: 7
Feature /name: point
Feature /loc: EMBL: AL163300: 32493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0052: 814
Feature /inexloc: -14
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1828
Feature /codon: cgg -> tgg; 1
Feature aa; 8
Feature /rnalink: 6
Feature /name: insertion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 248
Feature /change: +PSSQ
Feature /domain: VWFA
Feature aa; 9
Feature /rnalink: 7
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 586
Feature /change: R -> W
Feature /domain: CYS4
Protein exp. 0% COS cells
Symptoms moderate/severe
Sex XX
Ethnic origin Caucasoid
Relative ITGB2base; A0029 brother
//
ID #S22X57(1b),Intron 6/R586W(2b); standard; MUTATION;
ID CYS4
Accession A0029
Systematic name Allele 1: g.11525_11526delTC, c.66_67delTC, r.66_67deluc,
Systematic name p.Gln23fsX35
Systematic name Allele 2: g.[IVS6-14C>A + 32493C>T], c. [813_814ins +
Systematic name 1756C>T], p. [p.P247_E248insPSSQ + Arg586Trp]
Original code Patient K
Description Allele 1: deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: point mutation in the intron 6 leading to
Description an amino acid change and point mutation in the exon 13
Description leading to an amino acid change in the CYS4 domain
Date 19-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7705401
RefAuthors Wright, A. H., Douglass, W. A., Taylor, G. M., Lau, Y. L.,
RefAuthors Higgins, D., Davies, K. A., Law, S. K.
RefTitle Molecular characterization of leukocyte adhesion
RefTitle deficiency in six patients.
RefLoc Eur J Immunol 25:717-722 (1995)
RefNumber [2]
RefCrossRef PUBMED; 3899217
RefAuthors Ross, G. D., Thompson, R. A., Walport, M. J., Springer, T.
RefAuthors A., Watson, J. V., Ward, R. H., Lida, J., Newman, S. L.,
RefAuthors Harrison, R. A., Lachmann, P. J.
RefTitle Characterization of patients with an increased
RefTitle susceptibility to bacterial infections and a genetic
RefTitle deficiency of leukocyte membrane complement receptor type
RefTitle 3 and the related membrane antigen LFA-1.
RefLoc Blood 66:882-890 (1985)
RefNumber [3]
RefCrossRef PUBMED; 1346613
RefAuthors Nelson, C., Rabb, H., Arnaout, M. A.
RefTitle Genetic cause of leukocyte adhesion molecule deficiency.
RefTitle abnormal splicing and a missense mutation in a conserved
RefTitle region of CD18 impair cell surface expression of beta 2
RefTitle integrins.
RefLoc J Biol Chem 267:3351-3357 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11525..11526
Feature /change: -tc
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 138..139
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 22..23
Feature /change: SQ -> SGVHEVQGQQ LPGMHRVGAR LHLVPEAELH RAGGSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21401
Feature /change: c -> a
Feature /genomic_region: intron; 6
Feature dna; 5
Feature /rnalink: 7
Feature /name: point
Feature /loc: EMBL: AL163300: 32493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0052: 814
Feature /inexloc: -14
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1828
Feature /codon: cgg -> tgg; 1
Feature aa; 8
Feature /rnalink: 6
Feature /name: insertion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 248
Feature /change: +PSSQ
Feature /domain: VWFA
Feature aa; 9
Feature /rnalink: 7
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 586
Feature /change: R -> W
Protein exp. 0% COS cells
Symptoms moderate/severe
Sex XY
Ethnic origin Caucasoid
Relative ITGB2base; A0028 sister
//
ID @T26X58(1),P302L(1); standard; MUTATION; EC,VWFA
Accession A0079
Systematic name Allele 1: g.11536_11537insC, c.77_78insC, r.77_78insc,
Systematic name p.Lys27fsX32
Systematic name Allele 2: g.22735C>T, c.905C>T, r.905c>u, p.Pro302Leu
Description Allele 1: A frame shift insertion mutation in the exon 3
Description leading to a premature stop codon in the EC domain
Description Allele 2: A point mutation in the exon 8 leading to an
Description amino acid change in the VWFA domain
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AL163300: 11537
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 150
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 26
Feature /change: T -> TEVQGQQLPG MHRVGARLHL VPEAELHRAG GSX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 22735
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 977
Feature /codon: cca -> cta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 302
Feature /change: P -> L
Feature /domain: VWFA
Sex XY
//
ID K27X(1),Deletion(4); standard; MUTATION; EC,
Accession A0051
Systematic name Allele 1: g.11538A>T, c.79A>T, r.79a>u, p.Lys27X
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon in the EC domain
Description Allele 2: Large deletion (distal third of chromosome 21q)
Date 23-Jul-2010 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 19864007
RefAuthors Fiorini, M., Piovani, G., Schumacher, R. F., Magri, C.,
RefAuthors Bertini, V., Mazzolari, E., Notarangelo, L., Notarangelo,
RefAuthors L. D., Barlati, S.
RefTitle ITGB2 mutation combined with deleted ring 21 chromosome in
RefTitle a child with leukocyte adhesion deficiency.
RefLoc J Allergy Clin Immunol:1356-1358 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11538
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 151
Feature /codon: aag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 27
Feature /change: K -> X
Feature /domain: EC
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 Persistent anaemia; Leukocytosis; Microcephaly; Prominent
Symptoms forehead; Flat nasal bridge; Large ears;
Sex XY
Parents Non-consanguineous
Comment The same mutation was found in the patient's mother.
//
ID K27X(2),Q67X(2); standard; MUTATION; EC,EC
Accession A0114
Systematic name Allele 1: g.11538A>T, c.79A>T, r.79a>u, p.Lys27X
Systematic name Allele 2: g.14846C>T, c.199C>T, r.199c>u, p.Gln67X
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon in the EC domain
Description Allele 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the EC domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11538
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 151
Feature /codon: aag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 27
Feature /change: K -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 14846
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 271
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 67
Feature /change: Q -> X
Feature /domain: EC
Sex XY
//
ID C36S(1),C36S(1); standard; MUTATION; EC,EC
Accession A0088
Systematic name Allele 1 and 2: g.11565T>A, c.106T>A, r.106u>a, p.Cys36Ser
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11565
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 178
Feature /codon: tgc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 36
Feature /change: C -> S
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 11565
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 178
Feature /codon: tgc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 36
Feature /change: C -> S
Feature /domain: EC
//
ID #G40X46(1),#G40X46(1); standard; MUTATION; EC,EC
Accession A0018
Systematic name Allele 1 and 2: g.11578_11587delGGCCCGGCTG,
Systematic name c.119_128delGGCCCGGCTG, r.119_128delggcccggcug, p.Gly40fsX7
Original code HS
Description Allele 1 and 2: deletion in the exon 3 leading to a
Description premature stop codon in the EC domain
Date 13-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7901025
RefAuthors Lopez Rodriguez, C., Nueda, A., Grospierre, B., Sanchez-
RefAuthors Madrid, F., Fischer, A., Springer, T. A., Corbi, A. L.
RefTitle Characterization of two new CD18 alleles causing severe
RefTitle leukocyte adhesion deficiency.
RefLoc Eur J Immunol 23:2792-2798 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
Protein exp. 0% leukocytes
Symptoms severe
Sex XX
Parents Consanguineous
//
ID #G40X46(2),#G40X46(2); standard; MUTATION; EC,EC
Accession A0068
Systematic name Allele 1 and 2: g.11578_11587delGGCCCGGCTG,
Systematic name c.119_128delGGCCCGGCTG, r.119_128delggcccggcug, p.Gly40fsX7
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the EC domain
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11831866
RefAuthors Roos, D., Law, S. K.
RefTitle Hematologically important mutations: leukocyte adhesion
RefTitle deficiency.
RefLoc Blood Cells Mol Dis:1000-1004 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
//
ID #G40X46(3),#G40X46(3); standard; MUTATION; EC,EC
Accession A0083
Systematic name Allele 1 and 2: g.11578_11587delGGCCCGGCTG,
Systematic name c.119_128delGGCCCGGCTG, r.119_128delggcccggcug, p.Gly40fsX7
Original code Patient 1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the EC domain
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17272509
RefAuthors Castriconi, R., Dondero, A., Cantoni, C., Della Chiesa,
RefAuthors M., Prato, C., Nanni, M., Fiorini, M., Notarangelo, L.,
RefAuthors Parolini, S., Moretta, L., Notarangelo, L., Moretta, A.,
RefAuthors Bottino, C.
RefTitle Functional characterization of natural killer cells in
RefTitle type I leukocyte adhesion deficiency.
RefLoc Blood:4873-4881 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
Age 2
Sex XY
Ethnic origin Tunisia
Parents Consanguineous
//
ID #G40X46(4),#G40X46(4); standard; MUTATION; EC,EC
Accession A0089
Systematic name Allele 1 and 2: g.11578_11587delGGCCCGGCTG,
Systematic name c.119_128delGGCCCGGCTG, r.119_128delggcccggcug, p.Gly40fsX7
Original code Patient 1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the EC domain
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
Sex XX
//
ID #G40X46(5),#G40X46(5); standard; MUTATION; EC,EC
Accession A0133
Systematic name Allele 1 and 2: g.11578_11587delGGCCCGGCTG,
Systematic name c.119_128delGGCCCGGCTG, r.119_128delggcccggcug, p.Gly40fsX7
Original code Patient 1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the EC domain
Date 13-Sep-2011 (Rel. 1, Created)
Date 13-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11578..11587
Feature /change: -ggcccggctg
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 191..200
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40..43
Feature /change: GPGC -> APGARSX
Feature /domain: EC
Sex XY
//
ID #G40X49(1),#D690X714(6); standard; MUTATION; EC,EC
Accession A0127
Systematic name Allele 1: g.11579delG, c.120delG, r.120delg, p.Gly42fsX8
Systematic name Allele 2: g.33187delT, c.2070delT, r.2070delu,
Systematic name p.Asp690fsX25
Original code GR
Description Allele 1: A frame shift deletion mutation in the exon 3
Description leading to a premature stop codon in the EC domain
Description Allele 2: A frame shift deletion mutation in the exon 14
Description leading to a premature stop codon in the EC domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 11579
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 40
Feature /change: G -> GPAAPGARSX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33187
Feature /change: -t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2142
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 690
Feature /change: D -> ERAESVWQAP TSPPSSGAPW QASCX
Feature /domain: EC
Sex XX
//
ID T44P(1),?; standard; MUTATION; EC,
Accession A0090
Systematic name Allele 1: g.11589A>C, c.130A>C, r.130a>c, p.Thr44Pro
Systematic name Allele 2: g.33198delG, c.delG, r.delg
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Description Allele 2: A deletion in the intron 14 leading to
Description aberrant splicing
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11589
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 202
Feature /codon: acc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 44
Feature /change: T -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33198
Feature /change: -g
Feature /genomic_region: intron; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID T44P(2),G284S(10); standard; MUTATION; EC,VWFA
Accession A0091
Systematic name Allele 1: g.11589A>C, c.130A>C, r.130a>c, p.Thr44Pro
Systematic name Allele 2: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Description Allele 2: A point mutation in the exon 7 leading to
Description an amino acid change in the VWFA domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11589
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 202
Feature /codon: acc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 44
Feature /change: T -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 922
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
Sex XX
//
ID C62R(1),C62R(1); standard; MUTATION; EC,EC
Accession A0092
Systematic name Allele 1 and 2: g.14831T>C, c.184T>C, r.184u>c, p.Cys62Arg
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change in the EC domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 14831
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 256
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 62
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 14831
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 256
Feature /codon: tgc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 62
Feature /change: C -> R
Feature /domain: EC
Sex XY
//
ID C62X(1),G273R(2); standard; MUTATION; EC,VWFA
Accession A0093
Systematic name Allele 1: g.14833C>A, c.186C>A, r.186c>a, p.Cys62X
Systematic name Allele 2: g.21490G>A, c.817G>A, r.817g>a, p.Gly273Arg
Description Allele 1: A point mutation in the exon 4 leading to a
Description premature stop codon in the EC domain
Description Allele 2: A point mutation in the exon 7 leading to
Description an amino acid change in the VWFA domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 14833
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 258
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 62
Feature /change: C -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21490
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 889
Feature /codon: gga -> aga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 273
Feature /change: G -> R
Feature /domain: VWFA
Sex XY
//
ID Q67X(1a),Q67X(1a); standard; MUTATION; EC,EC
Accession A0005
Systematic name Allele 1 and 2: g.14846C>T, c.199C>T, r.199c>u, p.Gln67X
Original code Patient 3
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the EC domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 04-Mar-2013 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol 30:252-261 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 14846
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 271
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 67
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 14846
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 271
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 67
Feature /change: Q -> X
Feature /domain: EC
Protein exp. 0% leukocytes
Symptoms severe
Sex XX
Ethnic origin Caucasoid; Switzerland
Parents Consanguineous
Relative ITGB2base; A0062 brother
//
ID Q67X(1b),Q67X(1b); standard; MUTATION; EC,EC
Accession A0065
Systematic name Allele 1 and 2: g.14846C>T, c.199C>T, r.199c>u, p.Gln67X
Original code Patient 3
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon in the EC domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 04-Mar-2013 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol 30:252-261 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 14846
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 271
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 67
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 14846
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 271
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 67
Feature /change: Q -> X
Feature /domain: EC
Symptoms severe
Sex XY
Ethnic origin Caucasoid; Switzerland
Parents Consanguineous
Relative ITGB2base; A0005 sister
//
ID #D90X103(1),#D90X103(1); standard; MUTATION; EC,EC
Accession A0094
Systematic name Allele 1 and 2: g.14915delG, c.268delG, r.268delg,
Systematic name p.Asp90fsX14
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon in the EC domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 14915
Feature /change: -g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 340
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 90
Feature /change: D -> TTMGARSSCP HKKX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 14915
Feature /change: -g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 340
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 90
Feature /change: D -> TTMGARSSCP HKKX
Feature /domain: EC
Sex XY
//
ID L105P(1),L105P(1); standard; MUTATION; EC,EC
Accession A0095
Systematic name Allele 1 and 2: g.14961T>C, c.314T>C, r.314u>c, p.Leu105Pro
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change in the EC domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20807363
RefAuthors Hinze, C. H., Lucky, A. W., Bove, K. E., Marsh, R. A.,
RefAuthors Bleesing, J. H., Passo, M. H.
RefTitle Leukocyte adhesion deficiency type 1 presenting with
RefTitle recurrent pyoderma gangrenosum and flaccid scarring.
RefLoc Pediatr Dermatol:500-503 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 14961
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 386
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 105
Feature /change: L -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 14961
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 386
Feature /codon: ctt -> cct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 105
Feature /change: L -> P
Feature /domain: EC
Symptoms recurrent generalized nodular, pustular, and ulcerative
Symptoms lesions; delay in wound healing; ulcers in lowet
Symptoms extremities
Age 11
Sex XY
Ethnic origin African American
//
ID D128N(1),D128N(1); standard; MUTATION; VWFA,VWFA
Accession A0002
Systematic name Allele 1 and 2: g.18408G>A, c.382G>A, r.382g>a, p.Asp128Asn
Original code Patient K
Description Allele 1 and 2: point mutation in the exon 5 leading to an
Description amino acid change in the VWFA domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1590804
RefAuthors Matsuura, S., Kishi, F., Tsukahara, M., Nunoi, H.,
RefAuthors Matsuda, I., Kobayashi, K., Kajii, T.
RefTitle Leukocyte adhesion deficiency: identification of novel
RefTitle mutations in two japanese patients with a severe form.
RefLoc Biochem Biophys Res Commun 184:1460-1467 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18408
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 454
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 128
Feature /change: D -> N
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 18408
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 454
Feature /codon: gac -> aac; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 128
Feature /change: D -> N
Feature /domain: VWFA
Protein exp. N.D.
Symptoms severe
Sex XX
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID D128Y(1),D128Y(1); standard; MUTATION; VWFA,VWFA
Accession A0056
Systematic name Allele 1 and 2: g.18408G>T, c.382G>T, r.382g>u, p.Asp128Tyr
Original code P5
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change in the VWFA domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18408
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 454
Feature /codon: gac -> tac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 128
Feature /change: D -> Y
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 18408
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 454
Feature /codon: gac -> tac; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 128
Feature /change: D -> Y
Feature /domain: VWFA
Symptoms Omphalitis; pneumonia; Skin ulcers; Oral thrush;
Age 1 mo
Sex XX
Ethnic origin Iran
Comment Patient died at age 32 months.
//
ID D128Y(2),D128Y(2); standard; MUTATION; VWFA,VWFA
Accession A0059
Systematic name Allele 1 and 2: g.18408G>T, c.382G>T, r.382g>u, p.Asp128Tyr
Original code P8
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change in the VWFA domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18408
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 454
Feature /codon: gac -> tac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 128
Feature /change: D -> Y
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 18408
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 454
Feature /codon: gac -> tac; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 128
Feature /change: D -> Y
Feature /domain: VWFA
Symptoms Skin ulcer; Otitis media; Diarrhea; Periodontitis;
Age 8 mo
Sex XY
Ethnic origin Iran
//
ID D128N(3),#K332X375(1); standard; MUTATION; VWFA,VWFA
Accession A0117
Systematic name Allele 1: g.18408G>A, c.382G>A, r.382g>a, p.Asp128Asn
Systematic name Allele 2: g.26831_26840delAACTCACCGA,
Systematic name c.995_1004delAACTCACCGA, r.995_1004delaacucaccga,
Systematic name p.Lys332fsX44
Description Allele 1: A point mutation in the exon 5 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A frame shift deletion mutation in the exon 9
Description leading to a premature stop codon in the VWFA domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18408
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 454
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 128
Feature /change: D -> N
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 26831..26840
Feature /change: -aactcaccga
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1067..1076
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 332..335
Feature /change: KLTE ->
Feature /change: RSSPSQPWGS CLRTPAMWSI SLRMLTINSP PGSSWITTPS PTPX
Feature /domain: VWFA
Sex XY
//
ID Y131S(1),Y131S(1); standard; MUTATION; VWFA,VWFA
Accession A0046
Systematic name Allele 1 and 2: g.18418A>C, c.392A>C, r.392a>c, p.Tyr131Ser
Original code P1
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change in the VWFA domain
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17875809
RefAuthors Uzel, G., Tng, E., Rosenzweig, S. D., Hsu, A. P., Shaw, J.
RefAuthors M., Horwitz, M. E., Linton, G. F., Anderson, S. M., Kirby,
RefAuthors M. R., Oliveira, J. B., Brown, M. R., Fleisher, T. A.,
RefAuthors Law, S. K., Holland, S. M.
RefTitle Reversion mutations in patients with leukocyte adhesion
RefTitle deficiency type-1 (LAD-1).
RefLoc Blood:209-218 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18418
Feature /change: a -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 464
Feature /codon: tat -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 131
Feature /change: Y -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 18418
Feature /change: a -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 464
Feature /codon: tat -> tct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 131
Feature /change: Y -> S
Feature /domain: VWFA
Symptoms LAD-1
Age 0
Sex XY
Ethnic origin Caucasoid
Parents Non-consanguineous
//
ID D134N(1),R188X(1); standard; MUTATION; VWFA,VWFA
Accession A0076
Systematic name Allele 1: g.18426G>A, c.400G>A, r.400g>a, p.Asp134Asn
Systematic name Allele 2: g.20219C>T, c.562C>T, r.562c>u, p.Arg188X
Description Allele 1: A point mutation in the exon 5 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the VWFA domain
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18426
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 472
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 134
Feature /change: D -> N
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20219
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 634
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 188
Feature /change: R -> X
Feature /domain: VWFA
Sex XX
//
ID S138P(1),G273R(1); standard; MUTATION; VWFA,VWFA
Accession A0003
Systematic name Allele 1: g.18438T>C, c.412T>C, r.412u>c, p.Ser138Pro
Systematic name Allele 2: g.21490G>A, c.817G>A, r.817g>a, p.Gly273Arg
Original code JT
Description Allele 1: point mutation in the exon 5 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: point mutation in the exon 7 leading to an amino
Description acid change in the VWFA domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9884339
RefAuthors Hogg, N., Stewart, M. P., Scarth, S. L., Newton, R., Shaw,
RefAuthors J. M., Law, S. K., Klein, N.
RefTitle A novel leukocyte adhesion deficiency caused by expressed
RefTitle but nonfunctional beta2 integrins mac-1 and LFA-1.
RefLoc J Clin Invest 103:97-106 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18438
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 484
Feature /codon: tcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 138
Feature /change: S -> P
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21490
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 889
Feature /codon: gga -> aga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 273
Feature /change: G -> R
Feature /domain: VWFA
Protein exp. COS 100%, not active
Protein exp. COS 0%
Protein exp. leukocytes ~65% 11a, 25%, 11b, 140% 11c
Symptoms moderate expression, no function
//
ID L149P(1),#D690X714(4); standard; MUTATION; VWFA,EC
Accession A0017
Systematic name Allele 1: g.18472T>C, c.446T>C, r.446u>c, p.Leu149Pro
Systematic name Allele 2: g.33187delT, c.2070delT, r.2070delu,
Systematic name p.Asp690fsX25
Original code Patient 14/Patient G
Description Allele 1: point mutation in the exon 5 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: frameshift deletion in the exon 14 leading to a
Description premature stop codon in the EC domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1694220
RefAuthors Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T.
RefAuthors A.
RefTitle Distinct mutations in two patients with leukocyte adhesion
RefTitle deficiency and their functional correlates.
RefLoc J Exp Med 172:335-345 (1990)
RefNumber [2]
RefCrossRef PUBMED; 7705401
RefAuthors Wright, A. H., Douglass, W. A., Taylor, G. M., Lau, Y. L.,
RefAuthors Higgins, D., Davies, K. A., Law, S. K.
RefTitle Molecular characterization of leukocyte adhesion
RefTitle deficiency in six patients.
RefLoc Eur J Immunol 25:717-722 (1995)
RefNumber [3]
RefCrossRef PUBMED; 3899217
RefAuthors Ross, G. D., Thompson, R. A., Walport, M. J., Springer, T.
RefAuthors A., Watson, J. V., Ward, R. H., Lida, J., Newman, S. L.,
RefAuthors Harrison, R. A., Lachmann, P. J.
RefTitle Characterization of patients with an increased
RefTitle susceptibility to bacterial infections and a genetic
RefTitle deficiency of leukocyte membrane complement receptor type
RefTitle 3 and the related membrane antigen LFA-1.
RefLoc Blood 66:882-890 (1985)
RefNumber [4]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol 30:252-261 (2002)
RefNumber [5]
RefCrossRef PUBMED; 2464599
RefAuthors Kishimoto, T. K., O'Conner, K., Springer, T. A.
RefTitle Leukocyte adhesion deficiency. aberrant splicing of a
RefTitle conserved integrin sequence causes a moderate deficiency
RefTitle phenotype.
RefLoc J Biol Chem 264:3588-3595 (1989)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18472
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 518
Feature /codon: cta -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 149
Feature /change: L -> P
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33187
Feature /change: t ->
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2142
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 690
Feature /change: D -> ERAESVWQAP TSPPSSGAPW QASCX
Feature /domain: EC
Protein exp. low on COS or B cells
Symptoms moderate
Sex XY
Ethnic origin Caucasoid
//
ID L149P(2),Intron 5(2); standard; MUTATION; VWFA,
Accession A0078
Systematic name Allele 1: g.18472T>C, c.446T>C, r.446u>c, p.Leu149Pro
Description Allele 1: A point mutation in the exon 5 leading to
Description an amino acid change in the VWFA domain
Description Allele 2: Variation in intron 5
Date 20-Oct-2010 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18472
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 518
Feature /codon: cta -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 149
Feature /change: L -> P
Feature /domain: VWFA
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
Sex XY
//
ID G150D(1),P178L(6); standard; MUTATION; VWFA,VWFA
Accession A0099
Systematic name Allele 1: g.18475G>A, c.449G>A, r.449g>a, p.Gly150Asp
Systematic name Allele 2: g.20190C>T, c.533C>T, r.533c>u, p.Pro178Leu
Original code Patient 7
Description Allele 1: A point mutation in the exon 5 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A point mutation in the exon 6 leading to an
Description amino acid change in the VWFA domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18475
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 521
Feature /codon: ggt -> gat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 150
Feature /change: G -> D
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
Sex XY
//
ID G169R(1),G169R(1); standard; MUTATION; VWFA,VWFA
Accession A0010
Systematic name Allele 1 and 2: g.20162G>A, c.505G>A, r.505g>a, p.Gly169Arg
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 6 leading to an
Description amino acid change in the VWFA domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1694220
RefAuthors Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T.
RefAuthors A.
RefTitle Distinct mutations in two patients with leukocyte adhesion
RefTitle deficiency and their functional correlates.
RefLoc J Exp Med 172:335-345 (1990)
RefNumber [2]
RefCrossRef PUBMED; 3594570
RefAuthors Kishimoto, T. K., Hollander, N., Roberts, T. M., Anderson,
RefAuthors D. C., Springer, T. A.
RefTitle Heterogeneous mutations in the beta subunit common to the
RefTitle LFA-1, mac-1, and p150,95 glycoproteins cause leukocyte
RefTitle adhesion deficiency.
RefLoc Cell 50:193-202 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20162
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 577
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 169
Feature /change: G -> R
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20162
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 577
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 169
Feature /change: G -> R
Feature /domain: VWFA
Protein exp. 0% leukocytes, very low on COS cells
Symptoms severe
Sex XX
Ethnic origin Caucasoid; Hispanic
//
ID G169R(2),G169R(2); standard; MUTATION; VWFA,VWFA
Accession A0027
Systematic name Allele 1 and 2: g.20162G>A, c.505G>A, r.505g>a, p.Gly169Arg
Original code EM
Description Allele 1 and 2: point mutation in the exon 6 leading to an
Description amino acid change in the VWFA domain
Date 16-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1352501
RefAuthors Corbi, A. L., Vara, A., Ursa, A., Garcia Rodriguez, M. C.,
RefAuthors Fontan, G., Sanchez-Madrid, F.
RefTitle Molecular basis for a severe case of leukocyte adhesion
RefTitle deficiency.
RefLoc Eur J Immunol 22:1877-1881 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20162
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 577
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 169
Feature /change: G -> R
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20162
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 577
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 169
Feature /change: G -> R
Feature /domain: VWFA
Protein exp. 0% leukocytes
Symptoms severe
Sex XX
Ethnic origin Caucasoid
Parents Consanguineous
//
ID K174E(1),Intron 9(3); standard; MUTATION; VWFA,
Accession A0125
Systematic name Allele 1: g.20177A>G, c.520A>G, r.520a>g, p.Lys174Glu
Systematic name Allele 2: g.26924G>C, c.G>C, r.g>c
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change in the VWFA domain
Description Allele 2: A point mutation in the intron 9 leading to
Description aberrant splicing
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20177
Feature /change: a -> g
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 592
Feature /codon: aag -> gag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 174
Feature /change: K -> E
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 26924
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
//
ID P178L(1),?; standard; MUTATION; VWFA,?
Accession A0020
Systematic name Allele 1: g.20190C>T, c.533C>T, r.533c>u, p.Pro178Leu
Original code female Japanese
Description Allele 1: point mutation in the exon 6 leading to an
Description amino acid change in the VWFA domain
Date 13-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7509236
RefAuthors Ohashi, Y., Yambe, T., Tsuchiya, S., Kikuchi, H., Konno,
RefAuthors T.
RefTitle Familial genetic defect in a case of leukocyte adhesion
RefTitle deficiency.
RefLoc Hum Mutat 2:458-467 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
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
Protein exp. 0% leukocytes
Symptoms severe
Sex XX
Ethnic origin Mongoloid; Japan
//
ID P178L(3),Deletion(1); standard; MUTATION; VWFA,
Accession A0031
Systematic name Allele 1: g.20190C>T, c.533C>T, r.533c>u, p.Pro178Leu
Original code 15-year old boy
Description Allele 1: point mutation in the exon 6 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: unknown splice defect leading to deletion of
Description exon 13
Date 09-Apr-2003 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 1347532
RefAuthors Back, A. L., Kwok, W. W., Hickstein, D. D.
RefTitle Identification of two molecular defects in a child with
RefTitle leukocyte adherence deficiency.
RefLoc J Biol Chem 267:5482-5487 (1992)
RefNumber [2]
RefCrossRef PUBMED; 6142255
RefAuthors Beatty, P. G., Ochs, H. D., Harlan, J. M., Price, T. H.,
RefAuthors Rosen, H., Taylor, R. F., Hansen, J. A., Klebanoff, S. J.
RefTitle Absence of monoclonal-antibody-defined protein complex in
RefTitle boy with abnormal leucocyte function.
RefLoc Lancet 1:535-537 (1984)
RefNumber [3]
RefCrossRef PUBMED; 7143170
RefAuthors Bowen, T. J., Ochs, H. D., Altman, L. C., Price, T. H.,
RefAuthors Van Epps, D. E., Brautigan, D. L., Rosin, R. E., Perkins,
RefAuthors W. D., Babior, B. M., Klebanoff, S. J., Wedgwood, R. J.
RefTitle Severe recurrent bacterial infections associated with
RefTitle defective adherence and chemotaxis in two patients with
RefTitle neutrophils deficient in a cell-associated glycoprotein.
RefLoc J Pediatr 101:932-940 (1982)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0052: 1730..1949
Feature /change: -ggagggggct ctgcttctgc gggaagtgcc gctgccaccc
Feature /change: gggctttgag ggctcagcgt gccagtgcga gaggaccact
Feature /change: gagggctgcc tgaacccgcg gcgtgttgag tgtagtggtc
Feature /change: gtggccggtg ccgctgcaac gtatgcgagt gccattcagg
Feature /change: ctaccagctg cctctgtgcc aggagtgccc cggctgcccc
Feature /change: tcaccctgtg gcaagtacat
Feature /note: skipping of exon 13
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 553..626
Feature /change: GRGLCFCGKC RCHPGFEGSA CQCERTTEGC LNPRRVECSG
Feature /change: RGRCRCNVCE CHSGYQLPLC QECPGCPSPC GKYI
Feature /change: -> APAPSAX
Feature /domain: CYS3
Protein exp. 0% EBV B-cells
Symptoms severe
Sex XY
//
ID P178L(4a),P178L(4a); standard; MUTATION; VWFA,VWFA
Accession A0073
Systematic name Allele 1 and 2: g.20190C>T, c.533C>T, r.533c>u, p.Pro178Leu
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change in the VWFA domain
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
Sex XX
Relative ITGB2base; A0074
//
ID P178L(4b),P178L(4b); standard; MUTATION; VWFA,VWFA
Accession A0074
Systematic name Allele 1 and 2: g.20190C>T, c.533C>T, r.533c>u, p.Pro178Leu
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change in the VWFA domain
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
Sex XY
Relative ITGB2base; A0073
//
ID P178L(5),P178L(5); standard; MUTATION; VWFA,VWFA
Accession A0080
Systematic name Allele 1 and 2: g.20190C>T, c.533C>T, r.533c>u, p.Pro178Leu
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change in the VWFA domain
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12749013
RefAuthors Malawista, S. E., de Boisfleury Chevance, A., Brown, E.
RefAuthors J., Boxer, L. A., Law, S. K.
RefTitle Chemotaxis of non-compressed blood polymorphonuclear
RefTitle leukocytes from an adolescent with severe leukocyte
RefTitle adhesion deficiency.
RefLoc Am J Hematol:115-120 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20190
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 605
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 178
Feature /change: P -> L
Feature /domain: VWFA
Symptoms Recurrent cellulitis; Pneumonia; Sepsis; Persistent and
Symptoms chronic gingivitis;
Age 11.5
Sex XY
Ethnic origin Palestine
//
ID R188X(2a),R188X(2a); standard; MUTATION; VWFA,VWFA
Accession A0097
Systematic name Allele 1 and 2: g.20219C>T, c.562C>T, r.562c>u, p.Arg188X
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the VWFA domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 21103413
RefAuthors Simon, A. J., Lev, A., Wolach, B., Gavrieli, R.,
RefAuthors Amariglio, N., Rosenthal, E., Gazit, E., Eyal, E.,
RefAuthors Rechavi, G., Somech, R.
RefTitle The effect of gentamicin-induced readthrough on a novel
RefTitle premature termination codon of CD18 leukocyte adhesion
RefTitle deficiency patients.
RefLoc PLoS One:e13659 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20219
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 634
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 188
Feature /change: R -> X
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20219
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 634
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 188
Feature /change: R -> X
Feature /domain: VWFA
Relative A0098; brother
//
ID R188X(2b),R188X(2b); standard; MUTATION; VWFA,VWFA
Accession A0098
Systematic name Allele 1 and 2: g.20219C>T, c.562C>T, r.562c>u, p.Arg188X
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the VWFA domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 21103413
RefAuthors Simon, A. J., Lev, A., Wolach, B., Gavrieli, R.,
RefAuthors Amariglio, N., Rosenthal, E., Gazit, E., Eyal, E.,
RefAuthors Rechavi, G., Somech, R.
RefTitle The effect of gentamicin-induced readthrough on a novel
RefTitle premature termination codon of CD18 leukocyte adhesion
RefTitle deficiency patients.
RefLoc PLoS One:e13659 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20219
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 634
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 188
Feature /change: R -> X
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20219
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 634
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 188
Feature /change: R -> X
Feature /domain: VWFA
Relative A0097; brother
//
ID R188X(3),R188X(3); standard; MUTATION; VWFA,VWFA
Accession A0122
Systematic name Allele 1 and 2: g.20219C>T, c.562C>T, r.562c>u, p.Arg188X
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the VWFA domain
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 21103413
RefAuthors Simon, A. J., Lev, A., Wolach, B., Gavrieli, R.,
RefAuthors Amariglio, N., Rosenthal, E., Gazit, E., Eyal, E.,
RefAuthors Rechavi, G., Somech, R.
RefTitle The effect of gentamicin-induced readthrough on a novel
RefTitle premature termination codon of CD18 leukocyte adhesion
RefTitle deficiency patients.
RefLoc PLoS One:e13659 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20219
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 634
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 188
Feature /change: R -> X
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20219
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 634
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 188
Feature /change: R -> X
Feature /domain: VWFA
Symptoms Skin infection; Acute renal failure;
//
ID K196T(1),R593C(2); standard; MUTATION; VWFA,CYS4
Accession A0009
Systematic name Allele 1: g.20244A>C, c.587A>C, r.587a>c, p.Lys196Thr
Systematic name Allele 2: g.32514C>T, c.1777C>T, r.1777c>u, p.Arg593Cys
Original code Boy born ~1974
Description Allele 1: point mutation in the exon 6 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: point mutation in the exon 13 leading to an
Description amino acid change in the CYS4 domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1968911
RefAuthors Arnaout, M. A., Dana, N., Gupta, S. K., Tenen, D. G.,
RefAuthors Fathallah, D. M.
RefTitle Point mutations impairing cell surface expression of the
RefTitle common beta subunit (CD18) in a patient with leukocyte
RefTitle adhesion molecule (leu-CAM) deficiency.
RefLoc J Clin Invest 85:977-981 (1990)
RefNumber [2]
RefCrossRef PUBMED; 6361068
RefAuthors Dana, N., Todd, R. F., Pitt, J., Springer, T. A., Arnaout,
RefAuthors M. A.
RefTitle Deficiency of a surface membrane glycoprotein (mo1) in
RefTitle man.
RefLoc J Clin Invest 73:153-159 (1984)
RefNumber [3]
RefCrossRef PUBMED; 6278303
RefAuthors Arnaout, M. A., Pitt, J., Cohen, H. J., Melamed, J.,
RefAuthors Rosen, F. S., Colten, H. R.
RefTitle Deficiency of a granulocyte-membrane glycoprotein (gp150)
RefTitle in a boy with recurrent bacterial infections.
RefLoc N Engl J Med 306:693-699 (1982)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20244
Feature /change: a -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 659
Feature /codon: aaa -> aca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 196
Feature /change: K -> T
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
Protein exp. 10-20% leukocytes
Protein exp. 66% 1. In COS; 20% 2. In COS
Sex XY
Ethnic origin Caucasoid
//
ID #P201X208(1),Intron 4(1); standard; MUTATION; VWFA,
Accession A0050
Systematic name Allele 1: g.20259delC, c.602delC, r.602delc, p.Pro201fsX8
Systematic name Allele 2: g.IVS4+1G>A, c.328+1G>A, r.328+1g>a
Original code patient
Description Allele 1: A frame shift deletion mutation in the exon 6
Description leading to a premature stop codon
Description Allele 2: A deletion in the intron 4 leading to an amino
Description acid change
Date 19-May-2008 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 17244687
RefAuthors Tone, Y., Wada, T., Shibata, F., Toma, T., Hashida, Y.,
RefAuthors Kasahara, Y., Koizumi, S., Yachie, A.
RefTitle Somatic revertant mosaicism in a patient with leukocyte
RefTitle adhesion deficiency type 1.
RefLoc Blood:1182-1184 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 20259
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 674
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 201
Feature /change: P -> RLPSGTCX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 14976
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Age 0
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID @R205X264(1),@R205X264(1); standard; MUTATION; VWFA,VWFA
Accession A0021
Systematic name Allele 1 and 2: g.20270_20271insA, c.613_614insA,
Systematic name r.613_614insa, p.Arg205fsX60
Original code female infant
Description Allele 1 and 2: insertion in the exon 6 leading to a
Description premature stop codon in the VWFA domain
Date 13-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11332677
RefAuthors Pollard, A. J., Heale, J. P., Tsang, A., Massing, B.,
RefAuthors Speert, D. P.
RefTitle Nonopsonic phagocytosis of pseudomonas aeruginoas:
RefTitle insights from an infant with leukocyte adhesion
RefTitle deficiency.
RefLoc Pediatr Infect Dis J 20:452-454 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AL163300: 20271
Feature /change: +a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 686
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 205
Feature /change: R ->
Feature /change: KARAEADQQL QPVSDRGREA ADFRKPGCTR GWAGRHDAGR
Feature /change: RLPGGNRLAQ RHAAAGVCHX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AL163300: 20271
Feature /change: +a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 686
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 205
Feature /change: R ->
Feature /change: KARAEADQQL QPVSDRGREA ADFRKPGCTR GWAGRHDAGR
Feature /change: RLPGGNRLAQ RHAAAGVCHX
Feature /domain: VWFA
Protein exp. <4% on neutrophils
Symptoms severe
Sex XX
//
ID D231H(1),G284S(3); standard; MUTATION; VWFA,VWFA
Accession A0013
Systematic name Allele 1: g.20348G>C, c.691G>C, r.691g>c, p.Asp231His
Systematic name Allele 2: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Original code Patient AW
Description Allele 1: point mutation in the exon 6 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: point mutation in the exon 7 leading to an amino
Description acid change in the VWFA domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10886250
RefAuthors Mathew, E. C., Shaw, J. M., Bonilla, F. A., Law, S. K.,
RefAuthors Wright, D. A.
RefTitle A novel point mutation in CD18 causing the expression of
RefTitle dysfunctional CD11/CD18 leucocyte integrins in a patient
RefTitle with leucocyte adhesion deficiency (LAD).
RefLoc Clin Exp Immunol 121:133-138 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20348
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 763
Feature /codon: gat -> cat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 231
Feature /change: D -> H
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
Protein exp. COS 100%, not active
Protein exp. COS 0%
Protein exp. leukocytes ~65% 11a, 25% 11b, 140% 11c
Symptoms moderate
Sex XX
Ethnic origin Caucasoid; North European
//
ID D231H(2),W252X(1); standard; MUTATION; VWFA,VWFA
Accession A0075
Systematic name Allele 1: g.20348G>C, c.691G>C, r.691g>c, p.Asp231His
Systematic name Allele 2: g.21428G>A, c.755G>A, r.755g>a, p.Trp252X
Description Allele 1: A point mutation in the exon 6 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the VWFA domain
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20348
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 763
Feature /codon: gat -> cat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 231
Feature /change: D -> H
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21428
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 827
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 252
Feature /change: W -> X
Feature /domain: VWFA
Sex XY
//
ID D238N(1),G273R(3); standard; MUTATION; VWFA,VWFA
Accession A0113
Systematic name Allele 1: g.20369G>A, c.712G>A, r.712g>a, p.Asp238Asn
Systematic name Allele 2: g.21490G>A, c.817G>A, r.817g>a, p.Gly273Arg
Description Allele 1: A point mutation in the exon 6 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20369
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 784
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 238
Feature /change: D -> N
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21490
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 889
Feature /codon: gga -> aga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 273
Feature /change: G -> R
Feature /domain: VWFA
Sex XY
//
ID A239T(1),A239T(1); standard; MUTATION; VWFA,VWFA
Accession A0055
Systematic name Allele 1 and 2: g.20372G>A, c.715G>A, r.715g>a, p.Ala239Thr
Original code P4
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change in the VWFA domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20372
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 787
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 239
Feature /change: A -> T
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20372
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 787
Feature /codon: gcc -> acc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 239
Feature /change: A -> T
Feature /domain: VWFA
Symptoms Omphalitis; Sepsis; Colitis; Diarrhea;
Age 1 mo
Sex XY
Ethnic origin Iran
Comment Patient died at age 7 years.
//
ID A239T(2),A239T(2); standard; MUTATION; VWFA,VWFA
Accession A0130
Systematic name Allele 1 and 2: g.20372G>A, c.715G>A, r.715g>a, p.Ala239Thr
Original code Atri
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change in the VWFA domain
Date 13-Sep-2011 (Rel. 1, Created)
Date 13-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 20372
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 787
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 239
Feature /change: A -> T
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 20372
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 787
Feature /codon: gcc -> acc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 239
Feature /change: A -> T
Feature /domain: VWFA
Sex XY
//
ID W252R(1),W252R(1); standard; MUTATION; VWFA,VWFA
Accession A0004
Systematic name Allele 1 and 2: g.21427T>C, c.754T>C, r.754u>c, p.Trp252Arg
Original code Patient 4
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol 30:252-261 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21427
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 826
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 252
Feature /change: W -> R
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21427
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 826
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 252
Feature /change: W -> R
Feature /domain: VWFA
Protein exp. 0% leukocytes, 0% COS cells
Symptoms severe
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID R257W(1),Intron 7(8); standard; MUTATION; VWFA,
Accession A0131
Systematic name Allele 1: g.21442C>T, c.769C>T, r.769c>u, p.Arg257Trp
Systematic name Allele 2: g.21571G>A, c.G>A, r.g>a
Original code Izquierdo
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the VWFA domain
Description Allele 2: A point mutation in the intron 7 leading to
Description aberrant splicing
Date 13-Sep-2011 (Rel. 1, Created)
Date 13-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21442
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 841
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 257
Feature /change: R -> W
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
//
ID A270V(1),C590R(1); standard; MUTATION; VWFA,CYS4
Accession A0007
Systematic name Allele 1: g.21482C>T, c.809C>T, r.809c>u, p.Ala270Val
Systematic name Allele 2: g.32505T>C, c.1768T>C, r.1768u>c, p.Cys590Arg
Original code GF
Description Allele 1: point mutation in the exon 7 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: point mutation in the exon 13 leading to an
Description amino acid change in the CYS4 domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11703376
RefAuthors Shaw, J. M., Al-Shamkhani, A., Boxer, L. A., Buckley, C.
RefAuthors D., Dodds, A. W., Klein, N., Nolan, S. M., Roberts, I.,
RefAuthors Roos, D., Scarth, S. L., Simmons, D. L., Tan, S. M., Law,
RefAuthors S. K.
RefTitle Characterization of four CD18 mutants in leucocyte
RefTitle adhesion deficient (LAD) patients with differential
RefTitle capacities to support expression and function of the
RefTitle CD11/CD18 integrins LFA-1, mac-1 and p150,95.
RefLoc Clin Exp Immunol 126:311-318 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21482
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 881
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 270
Feature /change: A -> V
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32505
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1840
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 590
Feature /change: C -> R
Feature /domain: CYS4
Protein exp. COS: no 11a,11b; low 11c
Protein exp. COS: const active 11a, no 11b, low 11c
Symptoms mild
Sex XX
Ethnic origin Caucasoid; Persia
//
ID A270V(2),Intron 12(1); standard; MUTATION; VWFA,
Accession A0111
Systematic name Allele 1: g.21482C>T, c.809C>T, r.809c>u, p.Ala270Val
Systematic name Allele 2: g.32393A>G, c.A>G, r.a>g
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the VWFA domain
Description Allele 2: A point mutation in the intron 12 leading
Description to aberrant splicing
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21482
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 881
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 270
Feature /change: A -> V
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32393
Feature /change: a -> g
Feature /genomic_region: intron; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
//
ID G273R(4),C534X(4); standard; MUTATION; VWFA,CYS2
Accession A0118
Systematic name Allele 1: g.21490G>A, c.817G>A, r.817g>a, p.Gly273Arg
Systematic name Allele 2: g.31857C>A, c.1602C>A, r.1602c>a, p.Cys534X
Description Allele 1: A point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A point mutation in the exon 12 leading to a
Description premature stop codon in the CYS2 domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21490
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 889
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 273
Feature /change: G -> R
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 31857
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1674
Feature /codon: tgc -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 534
Feature /change: C -> X
Feature /domain: CYS2
Sex XY
//
ID G273R(5),G273R(5); standard; MUTATION; VWFA,VWFA
Accession A0123
Systematic name Allele 1 and 2: g.21490G>A, c.817G>A, r.817g>a, p.Gly273Arg
Description Allele 1 and 2: A point mutation in the exon 7 leading to
Description an amino acid change in the VWFA domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21490
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 889
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 273
Feature /change: G -> R
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21490
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 889
Feature /codon: gga -> aga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 273
Feature /change: G -> R
Feature /domain: VWFA
Sex XX
//
ID #P281X322(1),#P281X322(1); standard; MUTATION; VWFA,VWFA
Accession A0060
Systematic name Allele 1 and 2: g.21516delC, c.843delC, r.843delc,
Systematic name p.Asn282fsX41
Original code P9
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 7 leading to a premature stop codon in the VWFA domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 21516
Feature /change: -c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 915
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 281
Feature /change: P ->
Feature /change: PTTAAVTWRT TCTRGATNST THRWASWRTS WLKTTSSPSS RX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 21516
Feature /change: -c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 915
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 281
Feature /change: P ->
Feature /change: PTTAAVTWRT TCTRGATNST THRWASWRTS WLKTTSSPSS RX
Feature /domain: VWFA
Symptoms Skin ulcer; Omphalitis; Sepsis;
Age 1 mo
Sex XX
Ethnic origin Iran
Comment Patient died at the age of 2 months.
//
ID N282K(1),N282K(1); standard; MUTATION; VWFA,VWFA
Accession A0124
Systematic name Allele 1 and 2: g.21519C>A, c.846C>A, r.846c>a, p.Asn282Lys
Description Allele 1 and 2: A point mutation in the exon 7 leading to
Description an amino acid change in the VWFA domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21519
Feature /change: c -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 918
Feature /codon: aac -> aaa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 282
Feature /change: N -> K
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21519
Feature /change: c -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 918
Feature /codon: aac -> aaa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 282
Feature /change: N -> K
Feature /domain: VWFA
Sex XY
//
ID G284S(1),G284S(1); standard; MUTATION; VWFA,VWFA
Accession A0011
Systematic name Allele 1 and 2: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Original code Patient B
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7705401
RefAuthors Wright, A. H., Douglass, W. A., Taylor, G. M., Lau, Y. L.,
RefAuthors Higgins, D., Davies, K. A., Law, S. K.
RefTitle Molecular characterization of leukocyte adhesion
RefTitle deficiency in six patients.
RefLoc Eur J Immunol 25:717-722 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1975779
RefAuthors Taylor, G. M., Braddock, D., Robson, A. J., Fergusson, W.
RefAuthors D., Duckett, D. P., D'Souza, S. W., Brenchley, P.
RefTitle Expression of LFA-1 by a lymphoblastoid cell line from a
RefTitle patient with monosomy 21: effects on intercellular
RefTitle adhesion.
RefLoc Clin Exp Immunol 81:501-506 (1990)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
Protein exp. 0% in COS cells
Symptoms moderate/severe
Sex XX
Ethnic origin Caucasoid
//
ID G284S(2),R593C(3); standard; MUTATION; VWFA,CYS4
Accession A0012
Systematic name Allele 1: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Systematic name Allele 2: g.32514C>T, c.1777C>T, r.1777c>u, p.Arg593Cys
Original code Patient R
Description Allele 1: point mutation in the exon 7 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: point mutation in the exon 13 leading to an
Description amino acid change in the CYS4 domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7705401
RefAuthors Wright, A. H., Douglass, W. A., Taylor, G. M., Lau, Y. L.,
RefAuthors Higgins, D., Davies, K. A., Law, S. K.
RefTitle Molecular characterization of leukocyte adhesion
RefTitle deficiency in six patients.
RefLoc Eur J Immunol 25:717-722 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1673876
RefAuthors Davies, K. A., Toothill, V. J., Savill, J., Hotchin, N.,
RefAuthors Peters, A. M., Pearson, J. D., Haslett, C., Burke, M.,
RefAuthors Law, S. K., Mercer, N. F.
RefTitle A 19-year-old man with leucocyte adhesion deficiency. in
RefTitle vitro and in vivo studies of leucocyte function.
RefLoc Clin Exp Immunol 84:223-231 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
Protein exp. 0% in COS cells, 10% leukocytes
Symptoms moderate
Sex XY
Ethnic origin Caucasoid
Parents Non-consanguineous
//
ID G284S(4),?; standard; MUTATION; VWFA
Accession A0014
Systematic name Allele 1: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Original code 18 year old girl born ~1975
Description Allele 1: point mutation in the exon 7 leading to an amino
Description acid change in the VWFA domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7686755
RefAuthors Back, A. L., Kerkering, M., Baker, D., Bauer, T. R.,
RefAuthors Embree, L. J., Hickstein, D. D.
RefTitle A point mutation associated with leukocyte adhesion
RefTitle deficiency type 1 of moderate severity.
RefLoc Biochem Biophys Res Commun 193:912-918 (1993)
RefNumber [2]
RefCrossRef PUBMED; 7143170
RefAuthors Bowen, T. J., Ochs, H. D., Altman, L. C., Price, T. H.,
RefAuthors Van Epps, D. E., Brautigan, D. L., Rosin, R. E., Perkins,
RefAuthors W. D., Babior, B. M., Klebanoff, S. J., Wedgwood, R. J.
RefTitle Severe recurrent bacterial infections associated with
RefTitle defective adherence and chemotaxis in two patients with
RefTitle neutrophils deficient in a cell-associated glycoprotein.
RefLoc J Pediatr 101:932-940 (1982)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
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
Protein exp. 5% on leukocytes
Symptoms moderate
Sex XX
//
ID G284S(6),G284S(6); standard; MUTATION; VWFA,VWFA
Accession A0023
Systematic name Allele 1 and 2: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Original code Patient Y.M.
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Date 15-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefAuthors Law, S.K.A. unpubl.
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
Protein exp. 0% in COS cells
Sex XX
//
ID G284S(7a),#K499X528(3a); standard; MUTATION; VWFA,CYS2
Accession A0043
Systematic name Allele 1: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Systematic name Allele 2: g.31752delG, c.1497delG, r.1497delg,
Systematic name p.Asp500fsX29
Original code Patient S
Description Allele 1: a point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: a frame shift deletion in the exon 12 leading to
Description a premature stop codon in the CYS2 domain
Date 22-Apr-2004 (Rel. 1, Created)
Date 22-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12488604
RefAuthors Fathallah, D. M., Jamal, T., Barbouche, M. R., Bejaoui,
RefAuthors M., Hariz, M. B., Dellagi, K.
RefTitle Two novel frame shift, recurrent and de novo mutations in
RefTitle the ITGB2 (CD18) gene causing leukocyte adhesion
RefTitle deficiency in a highly inbred north african population.
RefLoc J Biomed Biotechnol 1:114-121 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 1569
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
Symptoms severe
Sex XX
Ethnic origin Tunisia
Parents Consanguineous
Relative ITGB2base; A0044 sister
//
ID G284S(7b),#K499X528(3b); standard; MUTATION; VWFA,CYS2
Accession A0044
Systematic name Allele 1: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Systematic name Allele 2: g.31752delG, c.1497delG, r.1497delg,
Systematic name p.Asp500fsX29
Original code Patient I
Description Allele 1: a point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: a frame shift deletion in the exon 12 leading to
Description a premature stop codon in the CYS2 domain
Date 22-Apr-2004 (Rel. 1, Created)
Date 22-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12488604
RefAuthors Fathallah, D. M., Jamal, T., Barbouche, M. R., Bejaoui,
RefAuthors M., Hariz, M. B., Dellagi, K.
RefTitle Two novel frame shift, recurrent and de novo mutations in
RefTitle the ITGB2 (CD18) gene causing leukocyte adhesion
RefTitle deficiency in a highly inbred north african population.
RefLoc J Biomed Biotechnol 1:114-121 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 1569
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
Symptoms severe
Sex XX
Ethnic origin Tunisia
Parents Consanguineous
Relative ITGB2base; A0043 sister
//
ID G284S(8),G284S(8); standard; MUTATION; VWFA,VWFA
Accession A0047
Systematic name Allele 1 and 2: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Original code P2
Description Allele 1 and 2: A point mutation in the exon 7 leading to
Description an amino acid change in the VWFA domain
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17875809
RefAuthors Uzel, G., Tng, E., Rosenzweig, S. D., Hsu, A. P., Shaw, J.
RefAuthors M., Horwitz, M. E., Linton, G. F., Anderson, S. M., Kirby,
RefAuthors M. R., Oliveira, J. B., Brown, M. R., Fleisher, T. A.,
RefAuthors Law, S. K., Holland, S. M.
RefTitle Reversion mutations in patients with leukocyte adhesion
RefTitle deficiency type-1 (LAD-1).
RefLoc Blood:209-218 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 922
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
Symptoms LAD-1
Age 0
Sex XX
Ethnic origin Caucasoid
Parents Non-consanguineous
//
ID G284S(9),#L714X726(1); standard; MUTATION; VWFA,
Accession A0072
Systematic name Allele 1: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Systematic name Allele 2: g.35049delG, c.2142delG, r.2142delg,
Systematic name p.Ile715fsX12
Original code subject D
Description Allele 1: A point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A frame shift deletion mutation in the exon 15
Description leading to a premature stop codon
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17875809
RefAuthors Uzel, G., Tng, E., Rosenzweig, S. D., Hsu, A. P., Shaw, J.
RefAuthors M., Horwitz, M. E., Linton, G. F., Anderson, S. M., Kirby,
RefAuthors M. R., Oliveira, J. B., Brown, M. R., Fleisher, T. A.,
RefAuthors Law, S. K., Holland, S. M.
RefTitle Reversion mutations in patients with leukocyte adhesion
RefTitle deficiency type-1 (LAD-1).
RefLoc Blood:209-218 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 35049
Feature /change: -g
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2214
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 714
Feature /change: L -> LSAFSCWSSG RLX
//
ID G284S(11),#D690X714(5); standard; MUTATION; VWFA,EC
Accession A0116
Systematic name Allele 1: g.21523G>A, c.850G>A, r.850g>a, p.Gly284Ser
Systematic name Allele 2: g.33187delT, c.2070delT, r.2070delu,
Systematic name p.Asp690fsX25
Description Allele 1: A point mutation in the exon 7 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A frame shift deletion mutation in the exon 14
Description leading to a premature stop codon in the EC domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21523
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 922
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 284
Feature /change: G -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33187
Feature /change: -t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2142
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 690
Feature /change: D -> ERAESVWQAP TSPPSSGAPW QASCX
Feature /domain: EC
Sex XY
//
ID D300V(1),D300V(1); standard; MUTATION; VWFA,VWFA
Accession A0084
Systematic name Allele 1 and 2: g.22729A>T, c.899A>T, r.899a>u, p.Asp300Val
Description Allele 1 and 2: A point mutation in the exon 8 leading to
Description an amino acid change in the VWFA domain
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20529581
RefAuthors Li, L., Jin, Y. Y., Cao, R. M., Chen, T. X.
RefTitle A novel point mutation in CD18 causing leukocyte adhesion
RefTitle deficiency in a chinese patient.
RefLoc Chin Med J (Engl):1278-1282 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 22729
Feature /change: a -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 971
Feature /codon: gac -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 300
Feature /change: D -> V
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 22729
Feature /change: a -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 971
Feature /codon: gac -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 300
Feature /change: D -> V
Feature /domain: VWFA
Symptoms Recurrent upper respiratory tract infections; Skin
Symptoms infections; Oral ulcer; Crissal cellulitis;
Sex XY
Ethnic origin China
Parents Consanguineous
//
ID A341P(1),C534X(2); standard; MUTATION; VWFA,CYS2
Accession A0006
Systematic name Allele 1: g.26857G>C, c.1021G>C, r.1021g>c,
Systematic name p.Ala341Pro
Systematic name Allele 2: g.31857C>A, c.1602C>A, r.1602c>a, p.Cys534X
Original code HM
Description Allele 1: point mutation in the exon 9 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: point mutation in the exon 12 leading to a
Description premature stop codon in the CYS2 domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol 30:252-261 (2002)
RefNumber [2]
RefCrossRef PUBMED; 11703376
RefAuthors Shaw, J. M., Al-Shamkhani, A., Boxer, L. A., Buckley, C.
RefAuthors D., Dodds, A. W., Klein, N., Nolan, S. M., Roberts, I.,
RefAuthors Roos, D., Scarth, S. L., Simmons, D. L., Tan, S. M., Law,
RefAuthors S. K.
RefTitle Characterization of four CD18 mutants in leucocyte
RefTitle adhesion deficient (LAD) patients with differential
RefTitle capacities to support expression and function of the
RefTitle CD11/CD18 integrins LFA-1, mac-1 and p150,95.
RefLoc Clin Exp Immunol 126:311-318 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 26857
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1093
Feature /codon: gcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 341
Feature /change: A -> P
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 31857
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1674
Feature /codon: tgc -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 534
Feature /change: C -> X
Feature /domain: CYS2
Protein exp. COS: low 11a, no 11b, 11c
Protein exp. ND
Protein exp. leukocytes 0%
Symptoms moderate
Sex XX
Ethnic origin Mexican hispanic
//
ID N351S(1),Intron 6/R586W(1); standard; MUTATION; VWFA,CYS4
Accession A0030
Systematic name Allele 1: g.26888A>G, c.1052A>G, r.1052a>g,
Systematic name p.Asn351Ser
Systematic name Allele 2: g.[IVS6-14C>A + 32493C>T], c. [813_814ins +
Systematic name 1756C>T], p. [p.P247_E248insPSSQ + Arg586Trp]
Original code Patient B.Q.
Description Allele 1: point mutation in the exon 9 leading to an amino
Description acid change in the VWFA domain
Description Allele 2: point mutation in the intron 6 leading to
Description an amino acid change and point mutation in the exon 13
Description leading to an amino acid change in the CYS4 domain
Date 15-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1346613
RefAuthors Nelson, C., Rabb, H., Arnaout, M. A.
RefTitle Genetic cause of leukocyte adhesion molecule deficiency.
RefTitle abnormal splicing and a missense mutation in a conserved
RefTitle region of CD18 impair cell surface expression of beta 2
RefTitle integrins.
RefLoc J Biol Chem 267:3351-3357 (1992)
RefNumber [2]
RefCrossRef PUBMED; 6237120
RefAuthors Arnaout, M. A., Spits, H., Terhorst, C., Pitt, J., Todd,
RefAuthors R. F.
RefTitle Deficiency of a leukocyte surface glycoprotein (LFA-1) in
RefTitle two patients with mo1 deficiency. effects of cell
RefTitle activation on mo1/LFA-1 surface expression in normal and
RefTitle deficient leukocytes.
RefLoc J Clin Invest 74:1291-1300 (1984)
RefNumber [3]
RefCrossRef PUBMED; 7366657
RefAuthors Crowley, C. A., Curnutte, J. T., Rosin, R. E., Andre-
RefAuthors Schwartz, J., Gallin, J. I., Klempner, M., Snyderman, R.,
RefAuthors Southwick, F. S., Stossel, T. P., Babior, B. M.
RefTitle An inherited abnormality of neutrophil adhesion. its
RefTitle genetic transmission and its association with a missing
RefTitle protein.
RefLoc N Engl J Med 302:1163-1168 (1980)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 26888
Feature /change: a -> g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1124
Feature /codon: aat -> agt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 351
Feature /change: N -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21401
Feature /change: c -> a
Feature /genomic_region: intron; 6
Feature dna; 5
Feature /rnalink: 7
Feature /name: point
Feature /loc: EMBL: AL163300: 32493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0052: 814
Feature /inexloc: -14
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1828
Feature /codon: cgg -> tgg; 1
Feature aa; 8
Feature /rnalink: 6
Feature /name: insertion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 248
Feature /change: +PSSQ
Feature /domain: VWFA
Feature aa; 9
Feature /rnalink: 7
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 586
Feature /change: R -> W
Feature /domain: CYS4
Protein exp. 0% COS cells
Symptoms mild
Sex XY
Ethnic origin Caucasoid
//
ID N351S(2),R586W(1),Intron 6(1); standard; MUTATION;
ID VWFA,CYS4,
Accession A0048
Systematic name Allele 1: g.26888A>G, c.1052A>G, r.1052a>g, p.Asn351Ser
Systematic name Allele 2: g.32493C>T, c.1756C>T, r.1756c>u, p.Arg586Trp
Systematic name Allele 2: g.IVS6-14C>A, c.742-14C>A, r.742-12_742-1ins
Original code P3
Description Allele 1: A point mutation in the exon 9 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A point mutation in the exon 13 leading to an
Description amino acid change in the VWFA domain
Description Allele 2: A point mutation in the intron 6 leading to
Description an amino acid change
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17875809
RefAuthors Uzel, G., Tng, E., Rosenzweig, S. D., Hsu, A. P., Shaw, J.
RefAuthors M., Horwitz, M. E., Linton, G. F., Anderson, S. M., Kirby,
RefAuthors M. R., Oliveira, J. B., Brown, M. R., Fleisher, T. A.,
RefAuthors Law, S. K., Holland, S. M.
RefTitle Reversion mutations in patients with leukocyte adhesion
RefTitle deficiency type-1 (LAD-1).
RefLoc Blood:209-218 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 26888
Feature /change: a -> g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1124
Feature /codon: aat -> agt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 351
Feature /change: N -> S
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32493
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1828
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 586
Feature /change: R -> W
Feature /domain: CYS4
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: EMBL: AL163300: 21401
Feature /change: c -> a
Feature /genomic_region: intron; 9
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: unknown
Feature /inexloc: -14
Feature aa; 9
Feature /rnalink: 8
Feature /name: unknown
Symptoms poor wound heeling, Crohn disease, severe gravitis and
Symptoms periodontitis
Age 0
Sex XY
Ethnic origin Caucasoid
Parents Non-consanguineous
//
ID @V353X357(1),@V353X357(1); standard; MUTATION;
ID VWFA,VWFA
Accession A0104
Systematic name Allele 1 and 2: g.26893_26895delins, c.1057_1059delins,
Systematic name r.1057_1059delins, p.Val353delinsSerSerHisX
Description Allele 1 and 2: An inframe deletion and 35 bp insertion in
Description in the exon 9 leading to premature stop codon in the VWFA
Dexcription domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /change: V -> SSHX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /change: V -> SSHX
Feature /domain: VWFA
Sex XY
//
ID @V353X357(2),@V353X357(2); standard; MUTATION;
ID VWFA,VWFA
Accession A0106
Systematic name Allele 1 and 2: g.26893_26895delins, c.1057_1059delins,
Systematic name r.1057_1059delins, p.Val353delinsSerSerHisX
Description Allele 1 and 2: An inframe deletion and 35 bp insertion in
Description in the exon 9 leading to premature stop codon in the VWFA
Dexcription domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /change: V -> SSHX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /change: V -> SSHX
Feature /domain: VWFA
Sex XX
//
ID @V353X357(3),@V353X357(3); standard; MUTATION;
ID VWFA,VWFA
Accession A0107
Systematic name Allele 1 and 2: g.26893_26895delins, c.1057_1059delins,
Systematic name r.1057_1059delins, p.Val353delinsSerSerHisX
Description Allele 1 and 2: An inframe deletion and 35 bp insertion in
Description in the exon 9 leading to premature stop codon in the VWFA
Dexcription domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /change: V -> SSHX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /change: V -> SSHX
Feature /domain: VWFA
Sex XY
//
ID #T381X390(1),#T381X390(1); standard; MUTATION; EC,EC
Accession A0052
Systematic name Allele 1 and 2: g.28405delC, c.1143delC, r.1143delc,
Systematic name p.Tyr382fsX9
Original code P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 10 leading to a premature stop codon in the EC domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 28405
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1215
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 381
Feature /change: T -> TTTPSAAMEX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 28405
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1215
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 381
Feature /change: T -> TTTPSAAMEX
Feature /domain: EC
Symptoms omphalitis; Skin ulcers; Sepsis;
Age 1 mo
Sex XY
Ethnic origin Iran
Comment Patient died at the age of 2 months.
//
ID #T381X390(2),#T381X390(2); standard; MUTATION; EC,EC
Accession A0128
Systematic name Allele 1 and 2: g.28405delC, c.1143delC, r.1143delc,
Systematic name p.Tyr382fsX9
Original code Maddahi
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 10 leading to a premature stop codon in the EC domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 28405
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1215
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 381
Feature /change: T -> TTTPSAAMEX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 28405
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1215
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 381
Feature /change: T -> TTTPSAAMEX
Feature /domain: EC
Sex XY
//
ID #E419X445(1),#E419X445(1); standard; MUTATION; EC,EC
Accession A0019
Systematic name Allele 1 and 2: g.29924_29925delGA, c.1255_1256delGA,
Systematic name r.1255_1256delga, p.Glu419fsX27
Original code Patient C
Description Allele 1 and 2: deletion in the exon 11 leading to a
Description premature stop codon in the EC domain
Date 13-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7705401
RefAuthors Wright, A. H., Douglass, W. A., Taylor, G. M., Lau, Y. L.,
RefAuthors Higgins, D., Davies, K. A., Law, S. K.
RefTitle Molecular characterization of leukocyte adhesion
RefTitle deficiency in six patients.
RefLoc Eur J Immunol 25:717-722 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1677833
RefAuthors Lau, Y. L., Low, L. C., Jones, B. M., Lawton, J. W.
RefTitle Defective neutrophil and lymphocyte function in leucocyte
RefTitle adhesion deficiency.
RefLoc Clin Exp Immunol 85:202-208 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 29924..29925
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1327..1328
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 419
Feature /change: E -> VHPGAVVCHP GAGLHGHSDR AGSSPVX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 29924..29925
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1327..1328
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 419
Feature /change: E -> VHPGAVVCHP GAGLHGHSDR AGSSPVX
Feature /domain: EC
Protein exp. N.D.
Symptoms mild
Sex XX
Ethnic origin Mongoloid; China
Parents Consanguineous
//
ID S453N(1),?; standard; MUTATION; CYS1,?
Accession A0112
Systematic name Allele 1 and 2: g.30027G>A, c.1358G>A, r.1358g>a,
Systematic name p.Ser453Asn
Description Allele 1 and 2: A point mutation in the exon 11 leading to
Description an amino acid change in the CYS1 domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 30027
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1430
Feature /codon: agc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 453
Feature /change: S -> N
Feature /domain: CYS1
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
Sex XY
//
ID #G463X528(1),#G463X528(1); standard; MUTATION;
ID CYS1,CYS1
Accession A0109
Systematic name Allele 1 and 2: g.30057_30059delinsCA, c.1388_1390delinsCA,
Systematic name r.1388_1390delinsca, p.Gly463fsX66
Description Allele 1 and 2: A frame shift indel mutation in the exon 11
Description leading to a premature stop codon in the CYS1 domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: EMBL: AL163300: 30057..30059
Feature /change: gct -> ca
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1460..1462
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 463
Feature /change: G ->
Feature /change: ASWSAASAGV TLATLGKTVS ARHRAGAARS WKEAAGRTTT
Feature /change: PSSAQGWGTV SAGSACATPA TSPASX
Feature /domain: CYS1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: EMBL: AL163300: 30057..30059
Feature /change: gct -> ca
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1460..1462
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 463
Feature /change: G ->
Feature /change: ASWSAASAGV TLATLGKTVS ARHRAGAARS WKEAAGRTTT
Feature /change: PSSAQGWGTV SAGSACATPA TSPASX
Feature /domain: CYS1
Sex XX
//
ID #C472X515(1),#R472X515(1); standard; MUTATION;
Accession A0134
Systematic name Allele 1 and 2: g.30082-149_33197+839delinsAAAA,
Systematic name c..1413-149_2080+839delinsAAA, r.1413-149_2080+839delinsaaa
Systematic name p.Cys471fsX43
Description Allele 1 and 2: A frame shift indel mutation in the exon 12
Description leading to a premature stop codon in the CYS1 domain
Date 16-Sep-2011 (Rel. 1, Created)
Date 16-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Sex XX
//
ID #T474X528(1),?; standard; MUTATION; CYS1,?
Accession A0115
Systematic name Allele 1: g.31676delC, c.1421delC, r.1421delc,
Systematic name p.Thr474fsX55
Description Allele 1: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the CYS1 domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 31676
Feature /change: -c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1493
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 474
Feature /change: T ->
Feature /change: MATLGKTVSA RHRAGAARSW KEAAGRTTTP SSAQGWGTVS
Feature /change: AGSACATPAT SPASX
Feature /domain: CYS1
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
Sex XY
//
ID #K499X528(1),#K499X528(1); standard; MUTATION; CYS2,CYS2
Accession A0041
Systematic name Allele 1 and 2: g.31752delG, c.1497delG, r.1497delg,
Systematic name p.Asp500fsX29
Original code Patient R
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the CYS2 domain
Date 22-Apr-2004 (Rel. 1, Created)
Date 22-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12488604
RefAuthors Fathallah, D. M., Jamal, T., Barbouche, M. R., Bejaoui,
RefAuthors M., Hariz, M. B., Dellagi, K.
RefTitle Two novel frame shift, recurrent and de novo mutations in
RefTitle the ITGB2 (CD18) gene causing leukocyte adhesion
RefTitle deficiency in a highly inbred north african population.
RefLoc J Biomed Biotechnol 1:114-121 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 1569
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 1569
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
Symptoms severe
Sex XX
Ethnic origin Tunisia
Parents Consanguineous
//
ID #K499X528(2),#G640X657(1); standard; MUTATION; CYS2,EC
Accession A0042
Systematic name Allele 1: g.31752delG, c.1497delG, r.1497delg,
Systematic name p.Asp500fsX29
Systematic name Allele 2: g.33037delG, c.1920delG, r.1920delg,
Systematic name p.Lys641fsX17
Original code Patient M
Description Allele 1: a frame shift deletion mutation in the exon 12
Description leading to a premature stop codon in the CYS2 domain
Description Allele 2: a frame shift deletion in the exon 14 leading to
Description a premature stop codon in the EC domain
Date 22-Apr-2004 (Rel. 1, Created)
Date 22-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12488604
RefAuthors Fathallah, D. M., Jamal, T., Barbouche, M. R., Bejaoui,
RefAuthors M., Hariz, M. B., Dellagi, K.
RefTitle Two novel frame shift, recurrent and de novo mutations in
RefTitle the ITGB2 (CD18) gene causing leukocyte adhesion
RefTitle deficiency in a highly inbred north african population.
RefLoc J Biomed Biotechnol 1:114-121 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 1569
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 33037
Feature /change: -g
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 1992
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 640
Feature /change: G -> GRTAARRVRA CSCRTTPX
Feature /domain: EC
Symptoms severe
Sex XX
Ethnic origin Tunisia
Parents Consanguineous
//
ID #K499X528(4),R593C(4); standard; MUTATION; CYS2,CYS4
Accession A0045
Systematic name Allele 1: g.31752delG, c.1497delG, r.1497delg,
Systematic name p.Asp500fsX29
Systematic name Allele 2: g.32514C>T, c.1777C>T, r.1777c>u, p.Arg593Cys
Original code Patient K
Description Allele 1: a frame shift deletion mutation in the exon 12
Description leading to a premature stop codon in the CYS2 domain
Description Allele 2: a point mutation in the exon 13 leading to an
Description amino acid change in the CYS4 domain
Date 22-Apr-2004 (Rel. 1, Created)
Date 22-Apr-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12488604
RefAuthors Fathallah, D. M., Jamal, T., Barbouche, M. R., Bejaoui,
RefAuthors M., Hariz, M. B., Dellagi, K.
RefTitle Two novel frame shift, recurrent and de novo mutations in
RefTitle the ITGB2 (CD18) gene causing leukocyte adhesion
RefTitle deficiency in a highly inbred north african population.
RefLoc J Biomed Biotechnol 1:114-121 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0052: 1569
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
Symptoms moderate
Sex XY
Ethnic origin Tunisia
Parents Consanguineous
//
ID #K499X528(5),#K499X528(5); standard; MUTATION;
ID CYS2,CYS2
Accession A0108
Systematic name Allele 1 and 2: g.31752delG, c.1497delG, r.1497delg,
Systematic name p.Asp500fsX29
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the CYS2 domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1569
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 31752
Feature /change: -g
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1569
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 499
Feature /change: K -> KTTTPSSAQG WGTVSAGSAC ATPATSPASX
Feature /domain: CYS2
Sex XX
Ethnic origin Tunisia
//
ID Y530X(1),Y530X(1); standard; MUTATION; CYS2,CYS2
Accession A0025
Systematic name Allele 1 and 2: g.31845C>G, c.1590C>G, r.1590c>g, p.Tyr530X
Original code Patient O.A.
Description Allele 1 and 2: point mutation in the exon 12 leading to a
Description premature stop codon in the CYS2 domain
Date 15-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefAuthors Law, S.K.A. unpubl.
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 31845
Feature /change: c -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1662
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 530
Feature /change: Y -> X
Feature /domain: CYS2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 31845
Feature /change: c -> g
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1662
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 530
Feature /change: Y -> X
Feature /domain: CYS2
Protein exp. 0% leukocytes
Symptoms severe
Sex XY
Parents Consanguineous
//
ID C534X(1),C534X(1); standard; MUTATION; CYS2,CYS2
Accession A0001
Systematic name Allele 1 and 2: g.31857C>A, c.1602C>A, r.1602c>a, p.Cys534X
Original code ZJO
Description Allele 1 and 2: point mutation in the exon 12 leading to a
Description premature stop codon in the CYS2 domain
Date 09-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7901025
RefAuthors Lopez Rodriguez, C., Nueda, A., Grospierre, B., Sanchez-
RefAuthors Madrid, F., Fischer, A., Springer, T. A., Corbi, A. L.
RefTitle Characterization of two new CD18 alleles causing severe
RefTitle leukocyte adhesion deficiency.
RefLoc Eur J Immunol 23:2792-2798 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 31857
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1674
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 534
Feature /change: C -> X
Feature /domain: CYS2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 31857
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1674
Feature /codon: tgc -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 534
Feature /change: C -> X
Feature /domain: CYS2
Protein exp. 0% leucosytes
Symptoms severe
//
ID C534X(3),C534X(3); standard MUTATION; CYS2,CYS2
Accession A0103
Systematic name Allele 1 and 2: g.31857C>A, c.1602C>A, r.1602c>a, p.Cys534X
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon in the CYS2 domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 31857
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1674
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 534
Feature /change: C -> X
Feature /domain: CYS2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 31857
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1674
Feature /codon: tgc -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 534
Feature /change: C -> X
Feature /domain: CYS2
Sex XY
//
ID #C541-12(1),E734X(1); standard; MUTATION; CYS3,IC
Accession A0040
Systematic name Allele 1: g.31877_31912del, c.1622_1657del, r.1622_1657del,
Systematic name p.Cys541del
Systematic name Allele 2: g.35107G>T, c.2200G>T, r.2200g>u, p.Glu734X
Original code 35-year-old man
Description Allele 1: an inframe deletion in the exon 12 leading to an
Description amino acid change in the CYS3 domain
Description Allele 2: a point mutation in the exon 15 leading to a
Description premature stop codon in the IC domain
Date 03-Mar-2004 (Rel. 1, Created)
Date 03-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14512306
RefAuthors Hixson, P., Smith, C. W., Shurin, S. B., Tosi, M. F.
RefTitle Unique CD18 mutations involving a deletion in the
RefTitle extracellular stalk region and a major truncation of the
RefTitle cytoplasmic domain in a patient with leukocyte adhesion
RefTitle deficiency type 1.
RefLoc Blood 103:1105-1113 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 31877..31912
Feature /change: -gtgagcgcta caacggccag gtctgcggcg gcccgg
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1694..1729
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 541..553
Feature /change: CERYNGQVCG GPG -> W
Feature /domain: CYS3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 35107
Feature /change: g -> t
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0052: 2272
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 734
Feature /change: E -> X
Feature /domain: IC
Protein exp. Average levels of CD18 integrin expression on the patient's
Protein exp. leukocyte populations was 21% of healthy adult levels
Sex XY
Comment -!-Patient had early severe periodontal disease with loss
Comment -!-of alveolar bone, neutropenia and recurrent boils
Comment -!-containing clear fluid, orolabial infection due to
Comment -!-Candida albicans
//
ID @C541X549(1),@C541X549(1); standard; MUTATION;
ID CYS3,CYS3
Accession A0101
Systematic name Allele 1 and 2: g.31877delinsACAGCGCAGTTGTAGCGCAGACC,
Systematic name c.1622delinsACAGCGCAGTTGTAGCGCAGACC,
Systematic name r.1622delinsacagcgcaguuguagcgcagacc, p.Cys541fsX9
Description Allele 1 and 2: A frame shift indel mutation in the exon 12
Description leading to a premature stop codon in the CYS3 domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: EMBL: AL163300: 31877
Feature /change: g -> acagcgcagt tgtagcgcag acc
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1694
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 541
Feature /change: C -> YSAVVAQTX
Feature /domain: CYS3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: EMBL: AL163300: 31877
Feature /change: g -> acagcgcagt tgtagcgcag acc
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1694
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 541
Feature /change: C -> YSAVVAQTX
Feature /domain: CYS3
Sex XY
//
ID Y544X(1),Y544X(1); standard; MUTATION; CYS3,CYS3
Accession A0096
Systematic name Allele 1 and 2: g.31887C>G, c.1632C>G, r.1632c>g, p.Tyr544X
Original code BA
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon in the CYS3 domain
Date 15-Sep-2011 (Rel. 1, Created)
Date 15-Sep-2011 (Rel. 1, Last updated, Version 1)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 31887
Feature /change: c -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1704
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 544
Feature /change: Y -> X
Feature /domain: CYS3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 31887
Feature /change: c -> g
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1704
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 544
Feature /change: Y -> X
Feature /domain: CYS3
Sex XX
//
ID Y544X(2),; standard; MUTATION; CYS3,
Accession A0120
Systematic name Allele 1: g.31887C>G, c.1632C>G, r.1632c>g, p.Tyr544X
Original code BA
Description Allele 1: A point mutation in the exon 12 leading to
Description a premature stop codon in the CYS3 domain
Date 15-Sep-2011 (Rel. 1, Created)
Date 15-Sep-2011 (Rel. 1, Last updated, Version 1)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 31887
Feature /change: c -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1704
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 544
Feature /change: Y -> X
Feature /domain: CYS3
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
Sex XX
//
ID C557S(1),C557S(1); standard; MUTATION; CYS3,CYS3
Accession A0129
Systematic name Allele 1 and 2: g.32407G>C, c.1670G>C, r.1670g>c,
Systematic name p.Cys557Ser
Original code Hosseini
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change in the CYS3 domain
Date 13-Sep-2011 (Rel. 1, Created)
Date 13-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 32407
Feature /change: g -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1742
Feature /codon: tgc -> tcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 557
Feature /change: C -> S
Feature /domain: CYS3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32407
Feature /change: g -> c
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1742
Feature /codon: tgc -> tcc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 557
Feature /change: C -> S
Feature /domain: CYS3
Sex XY
//
ID R593C(1a),R593C(1a); standard; MUTATION; CYS4,CYS4
Accession A0008
Systematic name Allele 1 and 2: g.32514C>T, c.1777C>T, r.1777c>u,
Systematic name p.Arg593Cys
Original code Patient 5 ref[1]
Description Allele 1 and 2: point mutation in the exon 13 leading to
Description an amino acid change in the CYS4 domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol 30:252-261 (2002)
RefNumber [2]
RefCrossRef PUBMED; 11703376
RefAuthors Shaw, J. M., Al-Shamkhani, A., Boxer, L. A., Buckley, C.
RefAuthors D., Dodds, A. W., Klein, N., Nolan, S. M., Roberts, I.,
RefAuthors Roos, D., Scarth, S. L., Simmons, D. L., Tan, S. M., Law,
RefAuthors S. K.
RefTitle Characterization of four CD18 mutants in leucocyte
RefTitle adhesion deficient (LAD) patients with differential
RefTitle capacities to support expression and function of the
RefTitle CD11/CD18 integrins LFA-1, mac-1 and p150,95.
RefLoc Clin Exp Immunol 126:311-318 (2001)
RefNumber [3]
RefCrossRef PUBMED; 3156928
RefAuthors Miedema, F., Tetteroo, P. A., Terpstra, F. G., Keizer, G.,
RefAuthors Roos, M., Weening, R. S., Weemaes, C. M., Roos, D.,
RefAuthors Melief, C. J.
RefTitle Immunologic studies with LFA-1- and mo1-deficient
RefTitle lymphocytes from a patient with recurrent bacterial
RefTitle infections.
RefLoc J Immunol 134:3075-3081 (1985)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0052: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
Protein exp. 10% leukocytes
Protein exp. COS: 58% 11a (const active), 5% 11b, 16%11c
Symptoms moderate
Sex XY
Ethnic origin Caucasoid; Gypsy
Relative ITGB2base; A0066 brother
Relative ITGB2base; A0067 sister
//
ID R593C(1b),R593C(1b); standard; MUTATION; CYS4,CYS4
Accession A0066
Systematic name Allele 1 and 2: g.32514C>T, c.1777C>T, r.1777c>u,
Systematic name p.Arg593Cys
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change in the CYS4 domain
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol:252-261 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
Symptoms moderate
Sex XY
Ethnic origin Caucasoid; Gypsy
Relative ITGB2base; A0008 brother
Relative ITGB2base; A0067 sister
//
ID R593C(1c),R593C(1c); standard; MUTATION; CYS4,CYS4
Accession A0067
Systematic name Allele 1 and 2: g.32514C>T, c.1777C>T, r.1777c>u,
Systematic name p.Arg593Cys
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change in the CYS4 domain
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol:252-261 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32514
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1849
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 593
Feature /change: R -> C
Feature /domain: CYS4
Symptoms moderate
Sex XX
Ethnic origin Caucasoid; Gypsy
Relative ITGB2base; A0008 brother
Relative ITGB2base; A0066 brother
//
ID C612R(1),C612R(1); standard; MUTATION; CYS4,CYS4
Accession A0082
Systematic name Allele 1 and 2: g.32571T>C, c.1834T>C, r.1834u>c,
Systematic name p.Cys612Arg
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change in the CYS4 domain
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12377933
RefAuthors Fiorini, M., Vermi, W., Facchetti, F., Moratto, D.,
RefAuthors Alessandri, G., Notarangelo, L., Caruso, A., Grigolato,
RefAuthors P., Ugazio, A. G., Notarangelo, L. D., Badolato, R.
RefTitle Defective migration of monocyte-derived dendritic cells in
RefTitle LAD-1 immunodeficiency.
RefLoc J Leukoc Biol:650-656 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 32571
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1906
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 612
Feature /change: C -> R
Feature /domain: CYS4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32571
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1906
Feature /codon: tgc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 612
Feature /change: C -> R
Feature /domain: CYS4
Symptoms Recurrent cutaneous infections and otitis;
//
ID #K636X657(1a),#K636X657(1a); standard; MUTATION; EC,EC
Accession A0061
Systematic name Allele 1 and 2: g.33024delA, c.1907delA, r.1907dela,
Systematic name p.Lys636fsX22
Original code P10
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 14 leading to a premature stop codon in the EC domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33024
Feature /change: -a
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1979
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 636
Feature /change: K -> RAPLGRTAAR RVRACSCRTT PX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33024
Feature /change: -a
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1979
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 636
Feature /change: K -> RAPLGRTAAR RVRACSCRTT PX
Feature /domain: EC
Symptoms Skin ulcers; Omphalitis; Oral apthus; Otitis media;
Symptoms Colitis; Diarrhea;
Age 1 mo
Sex XY
Relative ITGB2base; A0062
Ethnic origin Iran
//
ID #K636X657(1b),#K636X657(1b); standard; MUTATION; EC,EC
Accession A0062
Systematic name Allele 1 and 2: g.33024delA, c.1907delA, r.1907dela,
Systematic name p.Lys636fsX22
Original code P11
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 14 leading to a premature stop codon in the EC domain
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33024
Feature /change: -a
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1979
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 636
Feature /change: K -> RAPLGRTAAR RVRACSCRTT PX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33024
Feature /change: -a
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1979
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 636
Feature /change: K -> RAPLGRTAAR RVRACSCRTT PX
Feature /domain: EC
Symptoms Omphalitis; Preseptal cellulitis; Otitis media; Pneumonia;
Age 1 mo
Sex XX
Relative ITGB2base; A0061
Ethnic origin Iran
//
ID P648L(1),?; standard; MUTATION; EC,?
Accession A0110
Systematic name Allele 1: g.33060C>T, c.1943C>T, r.1943c>u, p.Pro648Leu
Description Allele 1: A point mutation in the exon 14 leading to
Description an amino acid change in the EC domain
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 33060
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2015
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 648
Feature /change: P -> L
Feature /domain: EC
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
Sex XY
//
ID #D690X714(1),?; standard; MUTATION; EC
Accession A0015
Systematic name Allele 1: g.33187delT, c.2070delT, r.2070delu,
Systematic name p.Asp690fsX25
Original code Male born 1987
Description Allele 1: deletion in the exon 14 leading to a premature
Description stop codon in the EC domain
Date 12-Aug-2002 (Rel. 1, Created)
Date 03-Nov-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1346132
RefAuthors Sligh, J. E., Hurwitz, M. Y., Zhu, C. M., Anderson, D. C.,
RefAuthors Beaudet, A. L.
RefTitle An initiation codon mutation in CD18 in association with
RefTitle the moderate phenotype of leukocyte adhesion deficiency.
RefLoc J Biol Chem 267:714-718 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AL163300: 33187
Feature /change: -t
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2142
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 690
Feature /change: D -> ERAESVWQAP TSPPSSGAPW QASCX
Feature /domain: EC
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
Protein exp. <1% leukocytes
Symptoms severe
Sex XY
Parents Non-consanguineous
Relative Description of pedigree:inherited (paternal)
//
ID S692R(1),S692R(1); standard; MUTATION; EC,EC
Accession A0138
Systematic name Allele 1 and 2: g.33191A>C, c.2074A>C, r.2074a>c,
Systematic name p.Ser692Arg
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description an amino acid change in the EC domain
Date 17-Sep-2014 (Rel. 1, Created)
Date 17-Sep-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (17-Sep-2014) to ITGB2base.
RefLoc Zahra Pourpak; Immunology, Asthma & Allergy Research
RefLoc Institute, Tehran University of Medical Sciences, Tehran,
RefLoc Iran; e-mail pourpakz@sina.tums.ac.ir
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 33191
Feature /change: a -> c
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2146
Feature /codon: agc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 692
Feature /change: S -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 33191
Feature /change: a -> c
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2146
Feature /codon: agc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 692
Feature /change: S -> R
Feature /domain: EC
Protein exp. p.Gly716Arg
Symptoms His symptoms started on the 27th day after birth and he was
Symptoms hospitalized for severe respiratory infections and otitis
Symptoms media (as the first manifestations). Result of flow
Symptoms cytometric analysis showed a defect in CD11 and CD18
Symptoms expression. After genetic study, he was referred to HSC
Symptoms transplantation and unfortunately HSC could not be done
Symptoms because of unavailability of any matched donors.
Age 1 month
Sex xy
Ethnic origin Caucasoid; IRAN
Parents Consanguineous
Relative His parents were heterozygous at this position. The genetic
Relative testing on the CVS sample demonstrated only one mutant
Relative allele (heterozygote) taht indicated the unaffected status
Relative of the fetus.
//
ID R693X(1),R693X(1); standard; MUTATION; EC,EC
Accession A0077
Systematic name Allele 1 and 2: g.33194C>T, c.2077C>T, r.2077c>u, p.Arg693X
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon in the EC domain
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 33194
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2149
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 693
Feature /change: R -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 33194
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2149
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 693
Feature /change: R -> X
Feature /domain: EC
Sex XY
//
ID G716A(1),G716A(1); standard; MUTATION;
Accession A0054
Systematic name Allele 1 and 2: g.35054G>C, c.2147G>C, r.2147g>c,
Systematic name p.Gly716Ala
Original code P3
Description Allele 1 and 2: A point mutation in the exon 15 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 35054
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2219
Feature /codon: ggc -> gcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 716
Feature /change: G -> A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 35054
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2219
Feature /codon: ggc -> gcc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 716
Feature /change: G -> A
Symptoms Omphalitis; Otitis media; Skin ulcers;
Age 1 mo
Sex XX
Ethnic origin Iran
Comment Patient died at age 13 months.
//
ID Intron 1(1),Intron 1(1); standard; MUTATION;
Accession A0137
Systematic name Allele 1 and 2: g.2146G>C, c.G>C, r.g>c
Description Allele 1 and 2: A point mutation in the intron 1 leading to
Description aberrant splicing
Date 25-Dec-2013 (Rel. 1, Created)
Date 25-Dec-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (25-Dec-2013) to ITGB2base.
RefLoc Zahra Pourpak; e-mail pourpakz@sina.tums.ac.ir
RefNumber [1]
RefCrossRef PUBMED; 24338230
RefAuthors Esmaeili, B., Ghadami, M., Fazlollahi, M. R., Niroomanesh,
RefAuthors S., Atarod, L., Chavoshzadeh, Z., Moradi, Z., Alizadeh,
RefAuthors Z., Pourpak, Z.
RefTitle Prenatal diagnosis of leukocyte adhesion deficiency type-
RefTitle 1 (five cases from iran with two new mutations).
RefLoc Iran J Allergy Asthma Immunol:61-65 (2014)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 2146
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1077
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 2146
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1077
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. p.Gly716Arg
Symptoms His symptoms started on the 27th day after birth and he was
Symptoms hospitalized for severe respiratory infections and otitis
Symptoms media (as the first manifestations). Result of flow
Symptoms cytometric analysis showed a defect in CD11 and CD18
Symptoms expression. After genetic study, he was referred to HSC
Symptoms transplantation and unfortunately HSC transplantation could
Symptoms not be done because of unavailability of any matched
Symptoms donors.
Age 1 month
Sex XY
Ethnic origin Caucasoid; IRAN
Parents Consanguineous
Relative His parents were heterozygous at this position. The genetic
Relative testing on the CVS sample demonstrated only one mutant
Relative allele (heterozygote) that indicated the unaffected status
Relative of the fetus.
//
ID Intron 2(1),?; standard; MUTATION;
Accession A0087
Systematic name Allele 1: g.11508C>A, c.C>A, r.c>a
Description Allele 1: A point mutation in the intron 2 leading to
Description aberrant splicing leading to premature stop codon
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 21195692
RefAuthors Bernard Cher, T. H., Chan, H. S., Klein, G. F., Jabkowski,
RefAuthors J., Schadenbock-Kranzl, G., Zach, O., Roca, X., Law, S. K.
RefTitle A novel 3' splice-site mutation and a novel gross deletion
RefTitle in leukocyte adhesion deficiency (LAD)-1.
RefLoc Biochem Biophys Res Commun:1099-1104 (2011)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11508
Feature /change: c -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -10
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: insertion at [59-43_59-1]
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature /inexloc: -10
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Severe facial soft tissue and skin infection, Non-healing
Symptoms ulcer on right arm, Intensive periodontitis and gingivitis
Age 14
Sex XX
Ethnic origin Caucasoid
//
ID Intron 2(2),Intron 11(1); standard; MUTATION;
Accession A0126
Systematic name Allele 1: g.11508C>A, c.C>A, r.c>a
Systematic name Allele 2: g.31272_...del27703, c.del27703, r.del27703
Description Allele 1: A point mutation in the intron 2 leading to
Description aberrant splicing
Description Allele 2: A deletion in the intron 11 leading to
Description deletion of exon 12_16
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 11508
Feature /change: c -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -10
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -10
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
//
ID Intron 4(2),Intron 4(2); standard; MUTATION;
Accession A0053
Systematic name Allele 1 and 2: g.18349C>A, c.329-6C>A, r.329-6c>a
Original code P2
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 18349
Feature /change: c -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -6
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 18349
Feature /change: c -> a
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -6
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Cervical lymphadenitis; Otitis media; Colitis; Diarrhea;
Symptoms Periodontitis; Skin ulcers;
Age 1.5
Sex XY
Ethnic origin Iran
Comment Patient died at age 13.5 years.
//
ID Intron 5(1),Intron 5(1); standard; MUTATION;
Accession A0033
Systematic name Allele 1 and 2: g.IVS5-12T>G
Original code Patient 2
Description Allele 1 and 2: point mutation in the intron 5 leading to
Description aberrabt splicing
Date 09-Apr-2003 (Rel. 1, Created)
Date 09-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol 30:252-261 (2002)
RefNumber [2]
RefCrossRef PUBMED; 1537350
RefAuthors Weening, R. S., Bredius, R. G., Vomberg, P. P., van der
RefAuthors Schoot, C. E., Hoogerwerf, M., Roos, D.
RefTitle Recombinant human interferon-gamma treatment in severe
RefTitle leucocyte adhesion deficiency.
RefLoc Eur J Pediatr 151:103-107 (1992)
RefNumber [3]
RefCrossRef PUBMED; 3317085
RefAuthors Berkinshaw, C. J., Weemaes, C. M., Roos, D., Tetteroo, P.
RefAuthors A., Weening, R. S.
RefTitle Congenital deficiency of leukocyte-adherence
RefTitle glycoproteins: a familial defect.
RefLoc Neth J Med 31:158-170 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 20145
Feature /change: t -> g
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0052: 572..720
Feature /change: -gcttcgggtc cttcgtggac aagaccgtgc tgccgttcgt
Feature /change: gaacacgcac cctgataagc tgcgaaaccc atgccccaac
Feature /change: aaggagaaag agtgccagcc cccgtttgcc ttcaggcacg
Feature /change: tgctgaagct gaccaacaac tccaaccag
Feature /note: skipping of part of exon 6
Feature /inexloc: -12
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 167..216
Feature /change: GFGSFVDKTV LPFVNTHPDK LRNPCPNKEK ECQPPFAFRH
Feature /change: VLKLTNNSNQ
Feature /change: -> VSDRGREAAD FRKPGCTRGW AGRHDAGRRL PGGNRLAQRH
Feature /change: AAAGVCHX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 20145
Feature /change: t -> g
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0052: 572..720
Feature /change: -gcttcgggtc cttcgtggac aagaccgtgc tgccgttcgt
Feature /change: gaacacgcac cctgataagc tgcgaaaccc atgccccaac
Feature /change: aaggagaaag agtgccagcc cccgtttgcc ttcaggcacg
Feature /change: tgctgaagct gaccaacaac tccaaccag
Feature /note: skipping of part of exon 6
Feature /inexloc: -12
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 167..216
Feature /change: GFGSFVDKTV LPFVNTHPDK LRNPCPNKEK ECQPPFAFRH
Feature /change: VLKLTNNSNQ
Feature /change: -> VSDRGREAAD FRKPGCTRGW AGRHDAGRRL PGGNRLAQRH
Feature /change: AAAGVCHX
Feature /domain: VWFA
Protein exp. 0% leukocytes
Symptoms severe
Sex XX
Ethnic origin Caucasoid; Holland
//
ID Intron 7(1a),Intron 7(1a); standard; MUTATION;
Accession A0039
Systematic name Allele 1 and 2: g.IVS7+1G>A
Original code Patient Y
Description Allele 1 and 2: point mutation in the intron 7 leading to
Description aberrant splicing
Date 09-Apr-2003 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1590804
RefAuthors Matsuura, S., Kishi, F., Tsukahara, M., Nunoi, H.,
RefAuthors Matsuda, I., Kobayashi, K., Kajii, T.
RefTitle Leukocyte adhesion deficiency: identification of novel
RefTitle mutations in two japanese patients with a severe form.
RefLoc Biochem Biophys Res Commun 184:1460-1467 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 2
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 3
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 4
Feature /dnalink: 1
Feature /aalink: 7
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagg
Feature rna; 5
Feature /dnalink: 2
Feature /aalink: 8
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +gtaagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggag
Feature rna; 6
Feature /dnalink: 3
Feature /aalink: 9
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggaggt atagtaaccg cccccaggct
Feature /change: acggctgcac cctgccgtcc ccgcctctgg ccagggtccc
Feature /change: atccccaagc atccgcctcc tccccctccc ggcctccact
Feature /change: gtacgttccc tgctgcccct gagtccgcct cctccagtgt
Feature /change: ggcccctccc tgcccccatt gcctgagctg ggtgagcggc
Feature /change: tgcggggacc atgaggaaca tgcagggagg gacagaggcg
Feature /change: agaaggagcc caggatgcac gggttaggat gagcctctct
Feature /change: gcggaggcat ctcaatggct cagaggggcc aggacttctg
Feature /change: gctgggatca gccgtgggcc gagaggcaac cactggtcac
Feature /change: aaggggcttg tcctcgctgg ccgtagtgcg acgctcttgc
Feature /change: agcctgacgt tgtaggctct gggggccgca aaggacttta
Feature /change: gagatacaag actcaggtcc tccgccggga gccacagacg
Feature /change: ggagggacgg ccctcgggtc ccggaactcg ggtagggaga
Feature /change: gccgcacctg acactcatgg cctctaccga aactgagtgt
Feature /change: ccctcagtgc gaaagcaggt ccaccgtgtg gggaaggctg
Feature /change: ggattctgcc cccgtggaca tccccagtcc cacggtgaga
Feature /change: cgcctcaaat gctgctcatg cctggactct gaaagcccga
Feature /change: gtctatgcac acattgccca gagggcgtgg cagctctctg
Feature /change: ccctgcactc ctgcgtggca gcctctgcct ctccagcctt
Feature /change: ccccagagag ggttcgaagc acgggcaggg ctgacgctga
Feature /change: gcggggcaga caggggcggg tacctggaag ccttgtcctg
Feature /change: gactcggggc caactgagca ggacctcctc tctccag
Feature /inexloc: +1
Feature aa; 7
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGLPIGGPAG AQAGX
Feature /domain: VWFA
Feature aa; 8
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> VSPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
Feature aa; 9
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 10
Feature /rnalink: 13
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 11
Feature /rnalink: 14
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 12
Feature /rnalink: 15
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 13
Feature /dnalink: 10
Feature /aalink: 16
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagg
Feature rna; 14
Feature /dnalink: 11
Feature /aalink: 17
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +gtaagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggag
Feature rna; 15
Feature /dnalink: 12
Feature /aalink: 18
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggaggt atagtaaccg cccccaggct
Feature /change: acggctgcac cctgccgtcc ccgcctctgg ccagggtccc
Feature /change: atccccaagc atccgcctcc tccccctccc ggcctccact
Feature /change: gtacgttccc tgctgcccct gagtccgcct cctccagtgt
Feature /change: ggcccctccc tgcccccatt gcctgagctg ggtgagcggc
Feature /change: tgcggggacc atgaggaaca tgcagggagg gacagaggcg
Feature /change: agaaggagcc caggatgcac gggttaggat gagcctctct
Feature /change: gcggaggcat ctcaatggct cagaggggcc aggacttctg
Feature /change: gctgggatca gccgtgggcc gagaggcaac cactggtcac
Feature /change: aaggggcttg tcctcgctgg ccgtagtgcg acgctcttgc
Feature /change: agcctgacgt tgtaggctct gggggccgca aaggacttta
Feature /change: gagatacaag actcaggtcc tccgccggga gccacagacg
Feature /change: ggagggacgg ccctcgggtc ccggaactcg ggtagggaga
Feature /change: gccgcacctg acactcatgg cctctaccga aactgagtgt
Feature /change: ccctcagtgc gaaagcaggt ccaccgtgtg gggaaggctg
Feature /change: ggattctgcc cccgtggaca tccccagtcc cacggtgaga
Feature /change: cgcctcaaat gctgctcatg cctggactct gaaagcccga
Feature /change: gtctatgcac acattgccca gagggcgtgg cagctctctg
Feature /change: ccctgcactc ctgcgtggca gcctctgcct ctccagcctt
Feature /change: ccccagagag ggttcgaagc acgggcaggg ctgacgctga
Feature /change: gcggggcaga caggggcggg tacctggaag ccttgtcctg
Feature /change: gactcggggc caactgagca ggacctcctc tctccag
Feature /inexloc: +1
Feature aa; 16
Feature /rnalink: 13
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGLPIGGPAG AQAGX
Feature /domain: VWFA
Feature aa; 17
Feature /rnalink: 14
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> VSPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
Feature aa; 18
Feature /rnalink: 15
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
Protein exp. 0% leukocytes
Symptoms severe
Sex XX
Ethnic origin Mongoloid; Japanese
Parents Non-consanguineous
//
ID Intron 7(1b),Intron 7(1b); standard; MUTATION;
Accession A0100
Systematic name Allele 1 and 2: g.IVS7+1G>A
Original code Patient Y
Description Allele 1 and 2: point mutation in the intron 7 leading to
Description aberrant splicing
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1590804
RefAuthors Matsuura, S., Kishi, F., Tsukahara, M., Nunoi, H.,
RefAuthors Matsuda, I., Kobayashi, K., Kajii, T.
RefTitle Leukocyte adhesion deficiency: identification of novel
RefTitle mutations in two japanese patients with a severe form.
RefLoc Biochem Biophys Res Commun 184:1460-1467 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 2
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 3
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 4
Feature /dnalink: 1
Feature /aalink: 7
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagg
Feature rna; 5
Feature /dnalink: 2
Feature /aalink: 8
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +gtaagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggag
Feature rna; 6
Feature /dnalink: 3
Feature /aalink: 9
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggaggt atagtaaccg cccccaggct
Feature /change: acggctgcac cctgccgtcc ccgcctctgg ccagggtccc
Feature /change: atccccaagc atccgcctcc tccccctccc ggcctccact
Feature /change: gtacgttccc tgctgcccct gagtccgcct cctccagtgt
Feature /change: ggcccctccc tgcccccatt gcctgagctg ggtgagcggc
Feature /change: tgcggggacc atgaggaaca tgcagggagg gacagaggcg
Feature /change: agaaggagcc caggatgcac gggttaggat gagcctctct
Feature /change: gcggaggcat ctcaatggct cagaggggcc aggacttctg
Feature /change: gctgggatca gccgtgggcc gagaggcaac cactggtcac
Feature /change: aaggggcttg tcctcgctgg ccgtagtgcg acgctcttgc
Feature /change: agcctgacgt tgtaggctct gggggccgca aaggacttta
Feature /change: gagatacaag actcaggtcc tccgccggga gccacagacg
Feature /change: ggagggacgg ccctcgggtc ccggaactcg ggtagggaga
Feature /change: gccgcacctg acactcatgg cctctaccga aactgagtgt
Feature /change: ccctcagtgc gaaagcaggt ccaccgtgtg gggaaggctg
Feature /change: ggattctgcc cccgtggaca tccccagtcc cacggtgaga
Feature /change: cgcctcaaat gctgctcatg cctggactct gaaagcccga
Feature /change: gtctatgcac acattgccca gagggcgtgg cagctctctg
Feature /change: ccctgcactc ctgcgtggca gcctctgcct ctccagcctt
Feature /change: ccccagagag ggttcgaagc acgggcaggg ctgacgctga
Feature /change: gcggggcaga caggggcggg tacctggaag ccttgtcctg
Feature /change: gactcggggc caactgagca ggacctcctc tctccag
Feature /inexloc: +1
Feature aa; 7
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGLPIGGPAG AQAGX
Feature /domain: VWFA
Feature aa; 8
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> VSPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
Feature aa; 9
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 10
Feature /rnalink: 13
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 11
Feature /rnalink: 14
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature dna; 12
Feature /rnalink: 15
Feature /name: point
Feature /loc: IDRefSeq: D0052: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 13
Feature /dnalink: 10
Feature /aalink: 16
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagg
Feature rna; 14
Feature /dnalink: 11
Feature /aalink: 17
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +gtaagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggag
Feature rna; 15
Feature /dnalink: 12
Feature /aalink: 18
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0052: 970
Feature /change: +ataagtcccc accccaggca cccaggcacc gcctggcagg
Feature /change: acaccactga cggaggagac aagggtgggg tctccacctg
Feature /change: acagagcctc cttctgaccc aaggagcaga ttcctgagga
Feature /change: aacttctgga agccccaagt ggcagcgtgg ggtctccccg
Feature /change: gactggcctc aggccagggg agggtagggt tggtgggggc
Feature /change: agccaggctg aggcccggcc tcgcccttgt gggacaccca
Feature /change: ggctctgttg gtctccagcc ccactgcccc cctacctggg
Feature /change: ctgacagctg ctgtggaggt atagtaaccg cccccaggct
Feature /change: acggctgcac cctgccgtcc ccgcctctgg ccagggtccc
Feature /change: atccccaagc atccgcctcc tccccctccc ggcctccact
Feature /change: gtacgttccc tgctgcccct gagtccgcct cctccagtgt
Feature /change: ggcccctccc tgcccccatt gcctgagctg ggtgagcggc
Feature /change: tgcggggacc atgaggaaca tgcagggagg gacagaggcg
Feature /change: agaaggagcc caggatgcac gggttaggat gagcctctct
Feature /change: gcggaggcat ctcaatggct cagaggggcc aggacttctg
Feature /change: gctgggatca gccgtgggcc gagaggcaac cactggtcac
Feature /change: aaggggcttg tcctcgctgg ccgtagtgcg acgctcttgc
Feature /change: agcctgacgt tgtaggctct gggggccgca aaggacttta
Feature /change: gagatacaag actcaggtcc tccgccggga gccacagacg
Feature /change: ggagggacgg ccctcgggtc ccggaactcg ggtagggaga
Feature /change: gccgcacctg acactcatgg cctctaccga aactgagtgt
Feature /change: ccctcagtgc gaaagcaggt ccaccgtgtg gggaaggctg
Feature /change: ggattctgcc cccgtggaca tccccagtcc cacggtgaga
Feature /change: cgcctcaaat gctgctcatg cctggactct gaaagcccga
Feature /change: gtctatgcac acattgccca gagggcgtgg cagctctctg
Feature /change: ccctgcactc ctgcgtggca gcctctgcct ctccagcctt
Feature /change: ccccagagag ggttcgaagc acgggcaggg ctgacgctga
Feature /change: gcggggcaga caggggcggg tacctggaag ccttgtcctg
Feature /change: gactcggggc caactgagca ggacctcctc tctccag
Feature /inexloc: +1
Feature aa; 16
Feature /rnalink: 13
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGLPIGGPAG AQAGX
Feature /domain: VWFA
Feature aa; 17
Feature /rnalink: 14
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> VSPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
Feature aa; 18
Feature /rnalink: 15
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05107; ITB2_HUMAN: 300
Feature /change: D -> ISPHPRHPGT AWQDTTDGGD KGGVSTX
Feature /domain: VWFA
Protein exp. 0% leukocytes
Symptoms severe
Sex XY
Ethnic origin Mongoloid; Japanese
Parents Non-consanguineous
//
ID Intron 7(2),Intron 7(2); standard; MUTATION;
Accession A0049
Systematic name Allele 1 and 2: g.IVS7+1G>A, c.897+1G>A, r.897+1g>a
Original code patient
Description Allele 1 and 2: A point mutation in the intron 7 leading to
Description an amino acid change
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17651379
RefAuthors Tsai, Y. C., Lee, W. I., Huang, J. L., Hung, I. J., Jaing,
RefAuthors T. H., Yao, T. C., Chen, M. T., Kuo, M. L.
RefTitle Neutrophil function and molecular analysis in severe
RefTitle leukocyte adhesion deficiency type I without separation
RefTitle delay of the umbilical cord.
RefLoc Pediatr Allergy Immunol:25-32 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Sepsis, complicated otitis media and neutrophilia.
Age 0,3
Sex XY
Ethnic origin Taiwan
Parents Non-consanguineous
//
ID Intron 7(3),Intron 7(3); standard; MUTATION;
Accession A0057
Systematic name Allele 1 and 2: g.21571G>A, c.897+1G>A, r.897+1g>a
Original code P6
Description Allele 1 and 2: A point mutation in the intron 7 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Omphalitis; Skin ulcers; Sepsis;
Age 1 mo
Sex XX
Ethnic origin Iran
Comment Patient died at age 36 months.
//
ID Intron 7(4),Intron 7(4); standard; MUTATION;
Accession A0058
Systematic name Allele 1 and 2: g.21571G>A, c.897+1G>A, r.897+1g>a
Original code P7
Description Allele 1 and 2: A point mutation in the intron 7 leading to
Description aberrant splicing
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20549317
RefAuthors Parvaneh, N., Mamishi, S., Rezaei, A., Rezaei, N.,
RefAuthors Tamizifar, B., Parvaneh, L., Sherkat, R., Ghalehbaghi, B.,
RefAuthors Kashef, S., Chavoshzadeh, Z., Isaeian, A., Ashrafi, F.,
RefAuthors Aghamohammadi, A.
RefTitle Characterization of 11 new cases of leukocyte adhesion
RefTitle deficiency type 1 with seven novel mutations in the ITGB2
RefTitle gene.
RefLoc J Clin Immunol:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Omphalitis; Sepsis;
Age 1 mo
Sex XX
Ethnic origin Iran
Comment Patient died at age 6 months.
//
ID Intron 7(5),Deletion(8); standard; MUTATION;
Accession A0085
Systematic name Allele 1: g.21571G>A, c.G>A, r.g>a
Systematic name Allele 2: Deletion
Description Allele 1: A point mutation in the intron 7 leading to
Description aberrant splicing
Description Allele 2: Deletion of whole gene
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
//
ID Intron 7(6),Intron 7(6); standard; MUTATION;
Accession A0105
Systematic name Allele 1 and 2: g.21571G>A, c.G>A, r.g>a
Description Allele 1 and 2: A point mutation in the intron 7 leading to
Description aberrant splicing
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
//
ID Intron 7(7),Intron 7(7); standard; MUTATION;
Accession A0121
Systematic name Allele 1 and 2: g.21571G>A, c.G>A, r.g>a
Description Allele 1 and 2: A point mutation in the intron 7 leading to
Description aberrant splicing
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 21571
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
//
ID Intron 9(1a),Intron 9(1a); standard; MUTATION;
Accession A0034
Systematic name Allele 1 and 2: g.IVS9+3G>C
Original code Patient 6
Description Allele 1 and 2: point mutation in the intron 9 leading to
Description an amino acid change
Date 09-Apr-2003 (Rel. 1, Created)
Date 09-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 2464599
RefAuthors Kishimoto, T. K., O'Conner, K., Springer, T. A.
RefTitle Leukocyte adhesion deficiency. aberrant splicing of a
RefTitle conserved integrin sequence causes a moderate deficiency
RefTitle phenotype.
RefLoc J Biol Chem 264:3588-3595 (1989)
RefNumber [2]
RefCrossRef PUBMED; 3900232
RefAuthors Anderson, D. C., Schmalsteig, F. C., Finegold, M. J.,
RefAuthors Hughes, B. J., Rothlein, R., Miller, L. J., Kohl, S.,
RefAuthors Tosi, M. F., Jacobs, R. L., Waldrop, T. C.
RefTitle The severe and moderate phenotypes of heritable mac-1, LFA-
RefTitle 1 deficiency: their quantitative definition and relation
RefTitle to leukocyte dysfunction and clinical features.
RefLoc J Infect Dis 152:668-689 (1985)
RefNumber [3]
RefCrossRef PUBMED; 3594570
RefAuthors Kishimoto, T. K., Hollander, N., Roberts, T. M., Anderson,
RefAuthors D. C., Springer, T. A.
RefTitle Heterogeneous mutations in the beta subunit common to the
RefTitle LFA-1, mac-1, and p150,95 glycoproteins cause leukocyte
RefTitle adhesion deficiency.
RefLoc Cell 50:193-202 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
Protein exp. most precursor too small, some normal
Symptoms moderate
Sex XY
Ethnic origin Hispanic
Parents Consanguineous
Relative ITGB2base; A0035 son
Relative ITGB2base; A0036 daughter
Relative ITGB2base; A0037
//
ID Intron 9(1b),Intron 9(1b); standard; MUTATION;
Accession A0035
Systematic name Allele 1 and 2: g.IVS9+3G>C
Original code Patient 7
Description Allele 1 and 2: point mutation in the intron 9 leading to
Description an amino acid change
Date 09-Apr-2003 (Rel. 1, Created)
Date 09-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 2464599
RefAuthors Kishimoto, T. K., O'Conner, K., Springer, T. A.
RefTitle Leukocyte adhesion deficiency. aberrant splicing of a
RefTitle conserved integrin sequence causes a moderate deficiency
RefTitle phenotype.
RefLoc J Biol Chem 264:3588-3595 (1989)
RefNumber [2]
RefCrossRef PUBMED; 3900232
RefAuthors Anderson, D. C., Schmalsteig, F. C., Finegold, M. J.,
RefAuthors Hughes, B. J., Rothlein, R., Miller, L. J., Kohl, S.,
RefAuthors Tosi, M. F., Jacobs, R. L., Waldrop, T. C.
RefTitle The severe and moderate phenotypes of heritable mac-1, LFA-
RefTitle 1 deficiency: their quantitative definition and relation
RefTitle to leukocyte dysfunction and clinical features.
RefLoc J Infect Dis 152:668-689 (1985)
RefNumber [3]
RefCrossRef PUBMED; 3594570
RefAuthors Kishimoto, T. K., Hollander, N., Roberts, T. M., Anderson,
RefAuthors D. C., Springer, T. A.
RefTitle Heterogeneous mutations in the beta subunit common to the
RefTitle LFA-1, mac-1, and p150,95 glycoproteins cause leukocyte
RefTitle adhesion deficiency.
RefLoc Cell 50:193-202 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
Protein exp. most precursor too small, some normal
Symptoms moderate
Sex XY
Ethnic origin Hispanic
Parents Consanguineous
Relative ITGB2base; A0034 father
Relative ITGB2base; A0036 sister
Relative ITGB2base; A0037
//
ID Intron 9(1c),Intron 9(1c); standard; MUTATION;
Accession A0036
Systematic name Allele 1 and 2: g.IVS9+3G>C
Original code Patient 8
Description Allele 1 and 2: point mutation in the intron 9 leading to
Description an amino acid change
Date 09-Apr-2003 (Rel. 1, Created)
Date 09-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 2464599
RefAuthors Kishimoto, T. K., O'Conner, K., Springer, T. A.
RefTitle Leukocyte adhesion deficiency. aberrant splicing of a
RefTitle conserved integrin sequence causes a moderate deficiency
RefTitle phenotype.
RefLoc J Biol Chem 264:3588-3595 (1989)
RefNumber [2]
RefCrossRef PUBMED; 3900232
RefAuthors Anderson, D. C., Schmalsteig, F. C., Finegold, M. J.,
RefAuthors Hughes, B. J., Rothlein, R., Miller, L. J., Kohl, S.,
RefAuthors Tosi, M. F., Jacobs, R. L., Waldrop, T. C.
RefTitle The severe and moderate phenotypes of heritable mac-1, LFA-
RefTitle 1 deficiency: their quantitative definition and relation
RefTitle to leukocyte dysfunction and clinical features.
RefLoc J Infect Dis 152:668-689 (1985)
RefNumber [3]
RefCrossRef PUBMED; 3594570
RefAuthors Kishimoto, T. K., Hollander, N., Roberts, T. M., Anderson,
RefAuthors D. C., Springer, T. A.
RefTitle Heterogeneous mutations in the beta subunit common to the
RefTitle LFA-1, mac-1, and p150,95 glycoproteins cause leukocyte
RefTitle adhesion deficiency.
RefLoc Cell 50:193-202 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
Protein exp. most precursor too small, some normal
Symptoms moderate
Sex XX
Ethnic origin Hispanic
Parents Consanguineous
Relative ITGB2base; A0034 father
Relative ITGB2base; A0035 brother
Relative ITGB2base; A0037
//
ID Intron 9(1d),Intron 9(1d); standard; MUTATION;
Accession A0037
Systematic name Allele 1 and 2: g.IVS9+3G>C
Original code Patient 4
Description Allele 1 and 2: point mutation in the intron 9 leading to
Description an amino acid change
Date 09-Apr-2003 (Rel. 1, Created)
Date 09-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 2464599
RefAuthors Kishimoto, T. K., O'Conner, K., Springer, T. A.
RefTitle Leukocyte adhesion deficiency. aberrant splicing of a
RefTitle conserved integrin sequence causes a moderate deficiency
RefTitle phenotype.
RefLoc J Biol Chem 264:3588-3595 (1989)
RefNumber [2]
RefCrossRef PUBMED; 3900232
RefAuthors Anderson, D. C., Schmalsteig, F. C., Finegold, M. J.,
RefAuthors Hughes, B. J., Rothlein, R., Miller, L. J., Kohl, S.,
RefAuthors Tosi, M. F., Jacobs, R. L., Waldrop, T. C.
RefTitle The severe and moderate phenotypes of heritable mac-1, LFA-
RefTitle 1 deficiency: their quantitative definition and relation
RefTitle to leukocyte dysfunction and clinical features.
RefLoc J Infect Dis 152:668-689 (1985)
RefNumber [3]
RefCrossRef PUBMED; 3594570
RefAuthors Kishimoto, T. K., Hollander, N., Roberts, T. M., Anderson,
RefAuthors D. C., Springer, T. A.
RefTitle Heterogeneous mutations in the beta subunit common to the
RefTitle LFA-1, mac-1, and p150,95 glycoproteins cause leukocyte
RefTitle adhesion deficiency.
RefLoc Cell 50:193-202 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0052: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 1066..1155
Feature /change: -aaactcaccg agatcatccc caagtcagcc gtgggggagc
Feature /change: tgtctgagga ctccagcaat gtggtccatc tcattaagaa
Feature /change: tgcttacaat
Feature /note: skipping of exon 9
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 332..361
Feature /change:
Feature /change: -KLTEIIPKSA VGELSEDSSN VVHLIKNAYN
Feature /domain: VWFA
Protein exp. most precursor too small, some normal
Symptoms moderate
Ethnic origin Hispanic
Parents Consanguineous
Relative ITGB2base; A0034
Relative ITGB2base; A0035
Relative ITGB2base; A0036
//
ID Intron 9(2),Intron 9(2); standard; MUTATION;
Accession A0119
Systematic name Allele 1 and 2: g.26922G>C, c.G>C, r.g>c
Description Allele 1 and 2: A point mutation in the intron 9 leading to
Description aberrant splicing
Date 09-Sep-2011 (Rel. 1, Created)
Date 09-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 26922
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
//
ID Deletion(2),?; standard; MUTATION;
Accession A0032
Original code male infant
Description Allele 1: Large deletion (distal third of chromosome 21q)
Date 09-Apr-2003 (Rel. 1, Created)
Date 09-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7472832
RefAuthors Rivera-Matos, I. R., Rakita, R. M., Mariscalco, M. M.,
RefAuthors Elder, F. F., Dreyer, S. A., Cleary, T. G.
RefTitle Leukocyte adhesion deficiency mimicking hirschsprung
RefTitle disease.
RefLoc J Pediatr 127:755-757 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion entire gene
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature /note: deletion entire gene
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein exp. 3% leukocytes
Symptoms severe
Sex XY
//
ID Deletion(3),Deletion(3); standard; MUTATION;
Accession A0038
Systematic name Allele 1 and 2: g.18318..18486del
Original code 1-year old male
Description Allele 1 and 2: deletion in the intron 4 and exon 5
Description leading to aberrant splicing
Date 10-Apr-2003 (Rel. 1, Created)
Date 10-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10712675
RefAuthors Allende, L. M., Hernandez, M., Corell, A., Garcia-Perez,
RefAuthors M. A., Varela, P., Moreno, A., Caragol, I., Garcia-Martin,
RefAuthors F., Guillen-Perales, J., Olive, T., Español, T., Arnaiz-
RefAuthors Villena, A.
RefTitle A novel CD18 genomic deletion in a patient with severe
RefTitle leucocyte adhesion deficiency: a possible CD2/lymphocyte
RefTitle function-associated antigen-1 functional association in
RefTitle humans.
RefLoc Immunology 99:440-450 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 18318..18486
Feature /change: -tgaggtgtgg ctccttttgt tctgtcccca ccggcaggcc
Feature /change: aggcagcagc gttcaacgtg accttccggc gggccaaggg
Feature /change: ctaccccatc gacctgtact atctgatgga cctctcctac
Feature /change: tccatgcttg atgacctcag gaatgtcaag aagctaggtg
Feature /change: gcgacctgc
Feature /genomic_region: intron; 4 exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 401..571
Feature /change: -gccaggcagc agcgttcaac gtgaccttcc ggcgggccaa
Feature /change: gggctacccc atcgacctgt actatctgat ggacctctcc
Feature /change: tactccatgc ttgatgacct caggaatgtc aagaagctag
Feature /change: gtggcgacct gctccgggcc ctcaacgaga tcaccgagtc
Feature /change: cggccgcatt g
Feature /note: skipping of exon 5
Feature /inexloc: -37
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 110..167
Feature /change: GQAAAFNVTF RRAKGYPIDL YYLMDLSYSM LDDLRNVKKL
Feature /change: GGDLLRALNE ITESGRIG
Feature /change: -> G
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0052: 18318..18486
Feature /change: -tgaggtgtgg ctccttttgt tctgtcccca ccggcaggcc
Feature /change: aggcagcagc gttcaacgtg accttccggc gggccaaggg
Feature /change: ctaccccatc gacctgtact atctgatgga cctctcctac
Feature /change: tccatgcttg atgacctcag gaatgtcaag aagctaggtg
Feature /change: gcgacctgc
Feature /genomic_region: intron; 4 exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0052: 401..571
Feature /change: -gccaggcagc agcgttcaac gtgaccttcc ggcgggccaa
Feature /change: gggctacccc atcgacctgt actatctgat ggacctctcc
Feature /change: tactccatgc ttgatgacct caggaatgtc aagaagctag
Feature /change: gtggcgacct gctccgggcc ctcaacgaga tcaccgagtc
Feature /change: cggccgcatt g
Feature /note: skipping of exon 5
Feature /inexloc: -37
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P05107; ITB2_HUMAN: 110..167
Feature /change: GQAAAFNVTF RRAKGYPIDL YYLMDLSYSM LDDLRNVKKL
Feature /change: GGDLLRALNE ITESGRIG
Feature /change: -> G
Feature /domain: EC
Protein exp. 0% leukocytes
Symptoms severe
Sex XY
//
ID Deletion(5a),Deletion(5a); standard; MUTATION;
Accession A0063
Original code patient 1
Description Allele 1 and 2: Deletion of 0.8 kb including exon 2
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol:252-261 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Recurrent bacterial infections;
Sex XX
Ethnic origin Turkey
Relative ITGB2base; A0064; sister
Parents Consanguineous
//
ID Deletion(5b),Deletion(5b); standard; MUTATION;
Accession A0064
Original code patient 1
Description Allele 1 and 2: Deletion of 0.8 kb including exon 2
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11882363
RefAuthors Roos, D., Meischl, C., de Boer, M., Simsek, S., Weening,
RefAuthors R. S., Sanal, O., Tezcan, I., Gungor, T., Law, S. K.
RefTitle Genetic analysis of patients with leukocyte adhesion
RefTitle deficiency: genomic sequencing reveals otherwise
RefTitle undetectable mutations.
RefLoc Exp Hematol:252-261 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Recurrent bacterial infections;
Sex XX
Ethnic origin Turkey
Relative ITGB2base; A0063; sister
Parents Consanguineous
Comment Patient died of recurrent infections at age 11 months
//
ID Deletion(6a),Deletion(6a); standard; MUTATION;
Accession A0070
Original code subject A
Description Allele 1 and 2: Deletion of 1500 bases including exons 12
Description and 13
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17875809
RefAuthors Uzel, G., Tng, E., Rosenzweig, S. D., Hsu, A. P., Shaw, J.
RefAuthors M., Horwitz, M. E., Linton, G. F., Anderson, S. M., Kirby,
RefAuthors M. R., Oliveira, J. B., Brown, M. R., Fleisher, T. A.,
RefAuthors Law, S. K., Holland, S. M.
RefTitle Reversion mutations in patients with leukocyte adhesion
RefTitle deficiency type-1 (LAD-1).
RefLoc Blood:209-218 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative ITGB2base; A0071; sibling
//
ID Deletion(6b),Deletion(6b); standard; MUTATION;
Accession A0071
Original code subject B
Description Allele 1 and 2: Deletion of 1500 bases including exons 12
and 13
Date 14-Oct-2010 (Rel. 1, Created)
Date 14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17875809
RefAuthors Uzel, G., Tng, E., Rosenzweig, S. D., Hsu, A. P., Shaw, J.
RefAuthors M., Horwitz, M. E., Linton, G. F., Anderson, S. M., Kirby,
RefAuthors M. R., Oliveira, J. B., Brown, M. R., Fleisher, T. A.,
RefAuthors Law, S. K., Holland, S. M.
RefTitle Reversion mutations in patients with leukocyte adhesion
RefTitle deficiency type-1 (LAD-1).
RefLoc Blood:209-218 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative ITGB2base; A0070; sibling
//
ID Deletion(7),Deletion(7); standard; MUTATION;
Accession A0081
Systematic name Allele 1 and 2: c.148-?_328+?del
Description Allele 1 and 2: Deletion of 181 bp including exon 4
Date 20-Oct-2010 (Rel. 1, Created)
Date 20-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11831866
RefAuthors Roos, D., Law, S. K.
RefTitle Hematologically important mutations: leukocyte adhesion
RefTitle deficiency.
RefLoc Blood Cells Mol Dis:1000-1004 (2002)
RefNumber [2]
RefCrossRef PUBMED; 12377933
RefAuthors Fiorini, M., Vermi, W., Facchetti, F., Moratto, D.,
RefAuthors Alessandri, G., Notarangelo, L., Caruso, A., Grigolato,
RefAuthors P., Ugazio, A. G., Notarangelo, L. D., Badolato, R.
RefTitle Defective migration of monocyte-derived dendritic cells in
RefTitle LAD-1 immunodeficiency.
RefLoc J Leukoc Biol:650-656 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Episodes of cutaneous infections and otitis;
Parents Consanguinous
//
ID Deletion(9),Deletion(9); standard; MUTATION;
Accession A0132
Systematic name Allele 1 and 2: g.29894-?_30081+?del, c.1225-?_1412+?del,
Systematic name r.1225_1412del, p.Ile409ValfsX410
Original code Mezzanotte
Description Allele 1 and 2: Deletion of exon 11 leading to premature
stop
Dexcription codon
Date 23-Jul-2010 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474,
RefLoc e-mail d_roos@clb.nl
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /change: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature /change: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID G716R(1),G716R(1); standard; MUTATION;
Accession A0135
Systematic name Allele 1 and 2: g.35053G>C, c.2146G>C, r.2146g>c,
Systematic name p.Gly716Arg
Description Allele 1 and 2: A point mutation in the exon 15 leading to
Description an amino acid change
Date 09-Jul-2014 (Rel. 1, Created)
Date 09-Jul-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (09-Jul-2014) to ITGB2base.
RefLoc Zahra Pourpak; Immunology, Asthma & Allergy Research
RefLoc Institute, Tehran University of Medical Sciences, Tehran, Iran; e-mail pourpakz@sina.tums.ac.ir
RefNumber [1]
RefCrossRef PUBMED; 24338230
RefAuthors Esmaeili, B., Ghadami, M., Fazlollahi, M. R., Niroomanesh,
RefAuthors S., Atarod, L., Chavoshzadeh, Z., Moradi, Z., Alizadeh,
RefAuthors Z., Pourpak, Z.
RefTitle Prenatal diagnosis of leukocyte adhesion deficiency type-
RefTitle 1 (five cases from iran with two new mutations).
RefLoc Iran J Allergy Asthma Immunol:61-65 (2014)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 35053
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2218
Feature /codon: ggc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 716
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 35053
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 2218
Feature /codon: ggc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 716
Feature /change: G -> R
Symptoms His umbilical cord was separated on the 9th day after
Symptoms birth. His symptoms started on the 27th day after birth and
Symptoms he was hospitalized for severe respiratory infections and
Symptoms otitis media (as the first manifestations). Result of flow
Symptoms cytometric analysis showed a defect in CD11 and CD18
Symptoms expression.
Age 27th days of birth
Sex xy
Ethnic origin Caucasoid; IRAN
Parents Consanguineous
Relative His parents were carriers. The genetic testing on the CVS
Relative sample demonstrated only one mutant allele (heterozygote)
Relative that indicated the unaffected status of the fetus.
//
ID I626T(1),I626T(1); standard; MUTATION; EC,EC
Accession A0136
Systematic name Allele 1 and 2: g.32614T>C, c.1877T>C, r.1877u>c,
Systematic name p.Ile626Thr
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change in the EC domain
Date 09-Jul-2014 (Rel. 1, Created)
Date 09-Jul-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (09-Jul-2014) to ITGB2base.
RefLoc Zahra Pourpak; Immunology, Asthma & Allergy Research
RefLoc Institute, Tehran University of Medical Sciences, Tehran, Iran; e-mail pourpakz@sina.tums.ac.ir
RefNumber [1]
RefCrossRef PUBMED; 24338230
RefAuthors Esmaeili, B., Ghadami, M., Fazlollahi, M. R., Niroomanesh,
RefAuthors S., Atarod, L., Chavoshzadeh, Z., Moradi, Z., Alizadeh,
RefAuthors Z., Pourpak, Z.
RefTitle Prenatal diagnosis of leukocyte adhesion deficiency type-
RefTitle 1 (five cases from iran with two new mutations).
RefLoc Iran J Allergy Asthma Immunol:61-65 (2014)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL163300: 32614
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1949
Feature /codon: atc -> acc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 626
Feature /change: I -> T
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL163300: 32614
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M15395; GI:186933; HSLAP: 1949
Feature /codon: atc -> acc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P05107; ITB2_HUMAN: 626
Feature /change: I -> T
Feature /domain: EC
Protein exp. c.1877+2T>C splice site
Symptoms His symptoms started when he was 4 years old. His umbilical
Symptoms cord was normally separated. Recurrent and infectious
Symptoms ulcers without improvement were his main complaints.He also
Symptoms had history of one skin graft rejection. The other symptoms
Symptoms were recurrent infections and otitis. HSC transplantation
Symptoms was done successfully.
Age 4
Sex xy
Ethnic origin Caucasoid; IRAN
Parents Consanguineous
Relative His parents were carriers. This family had four children.
Relative The third one was a boy who was born in 1997 and he was
Relative affected.His mother was referred to IARRI when she was
Relative pregnant at 10th week of gestation for prenatal diagnosis.
Relative The affected region was investigated for CVS sample that
Relative revealed existing of normal allele.
//
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