Dtabase FERMT3base
Version 1.0
File fermt3pub.html
Date 08-Apr-2013
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/FERMT3base/
Gene FERMT3
Disease Leukocyte Adhesion Deficiency Type III
OMIM 607901
Sequence IdRefSeq:D0134; IdRefSeq:C0134;
Sequence UniProt:Q86UX7
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Funding Finnish Academy
Comments sequence entry reference in every entry
//
ID W16X(1a),W16X(1a); standard; MUTATION;
Accession F0019
Systematic name Allele 1 and 2: g.1679G>A, c.48G>A, r.48g>a, p.Trp16X
Original code Subject1
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19234460
RefAuthors Malinin, N. L., Zhang, L., Choi, J., Ciocea, A.,
RefAuthors Razorenova, O., Ma, Y. Q., Podrez, E. A., Tosi, M.,
RefAuthors Lennon, D. P., Caplan, A. I., Shurin, S. B., Plow, E. F.,
RefAuthors Byzova, T. V.
RefTitle A point mutation in KINDLIN3 ablates activation of three
RefTitle integrin subfamilies in humans.
RefLoc Nat Med:313-318 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 1679
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 197
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 16
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 1679
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 197
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 16
Feature /change: W -> X
Symptoms Recurrent clinical bleeding; Osteopetrosis;
Symptoms Lymphadenitis; Hepatosplenomegaly;
Sex XY
Ethnic origin Arabic
Relative FERMT3base; F0020 sister
//
ID W16X(1b),W16X(1b); standard; MUTATION;
Accession F0020
Systematic name Allele 1 and 2: g.1679G>A, c.48G>A, r.48g>a, p.Trp16X
Original code Subject2
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19234460
RefAuthors Malinin, N. L., Zhang, L., Choi, J., Ciocea, A.,
RefAuthors Razorenova, O., Ma, Y. Q., Podrez, E. A., Tosi, M.,
RefAuthors Lennon, D. P., Caplan, A. I., Shurin, S. B., Plow, E. F.,
RefAuthors Byzova, T. V.
RefTitle A point mutation in KINDLIN3 ablates activation of three
RefTitle integrin subfamilies in humans.
RefLoc Nat Med:313-318 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 1679
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 197
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 16
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 1679
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 197
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 16
Feature /change: W -> X
Symptoms Recurrent mucocutaneous bleeding; Intracranial
Symptoms haemorrhage;
Sex XX
Ethnic origin Arabic
Relative FERMT3base; F0019 brother
//
ID @L80X148(1),@L80X148(1); standard; MUTATION;
Accession F0024
Systematic name Allele 1 and 2: g.4954_4955insCTGGACA, c.237_238insCTGGACA,
Systematic name r.237_238inscuggaca, p.Lys82fsX67
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 3 leading to a premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-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: IdRefSeq: D0134: 4955
Feature /change: +ctggaca
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IdRefSeq: C0134; GI:215983055; : 387
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 80
Feature /change: L ->
Feature /change: LDTGQVRDPG RRTPLLWAPA PARHPSVAQP PRTAPPCQLL
Feature /change: PAPLPGCGCH LPPPQHPAPR GAVPAPGSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IdRefSeq: D0134: 4955
Feature /change: +ctggaca
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IdRefSeq: C0134; GI:215983055; : 387
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 80
Feature /change: L ->
Feature /change: LDTGQVRDPG RRTPLLWAPA PARHPSVAQP PRTAPPCQLL
Feature /change: PAPLPGCGCH LPPPQHPAPR GAVPAPGSX
Sex XY
Ethnic origin Turkey
//
ID W229X(1a),W229X(1a); standard; MUTATION;
Accession F0014
Systematic name Allele 1 and 2: g.5915G>A, c.687G>A, r.687g>a, p.Trp229X
Original code F9
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 5915
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 836
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 229
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 5915
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 836
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 229
Feature /change: W -> X
Sex XY
Ethnic origin Arabic
Relative FERMT3base; F0015 brother
Parents Consanguineous
Comment Both parents of the patient were heterozygous for the same
Comment mutation
//
ID W229X(1b),W229X(1b); standard; MUTATION;
Accession F0015
Systematic name Allele 1 and 2: g.5915G>A, c.687G>A, r.687g>a, p.Trp229X
Original code P.B
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19617577
RefAuthors Manevich-Mendelson, E., Feigelson, S. W., Pasvolsky, R.,
RefAuthors Aker, M., Grabovsky, V., Shulman, Z., Kilic, S. S.,
RefAuthors Rosenthal-Allieri, M. A., Ben-Dor, S., Mory, A., Bernard,
RefAuthors A., Moser, M., Etzioni, A., Alon, R.
RefTitle Loss of kindlin-3 in LAD-III eliminates LFA-1 but not VLA-
RefTitle 4 adhesiveness developed under shear flow conditions.
RefLoc Blood:2344-2353 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 5915
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 836
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 229
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 5915
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 836
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 229
Feature /change: W -> X
Sex XX
Ethnic origin Arabic
Relative FERMT3base; F0014 sister
Parents Consanguineous
Comment Both parents of the patient were carrier of the same
Comment mutation
//
ID G308R/#L425X428(1),G308R/#L425X428(1); standard; MUTATION;
Accession F0021
Systematic name Allele 1 and 2: g.[13818G>A;14557delT],
Systematic name c.[922G>A;1275delT], r.[922g>a;1275delu],
Systematic name p.[Gly308Arg;Leu425fsX4]
Description Allele 1 and 2: A point mutation in the exon 8 leading to
Description an amino acid change and a frame shift deletion mutation
Description in the exon 11 leading to a premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20357244
RefAuthors McDowall, A., Svensson, L., Stanley, P., Patzak, I.,
RefAuthors Chakravarty, P., Howarth, K., Sabnis, H., Briones, M.,
RefAuthors Hogg, N.
RefTitle Two mutations in the KINDLIN3 gene of a new leukocyte
RefTitle adhesion deficiency III patient reveal distinct effects on
RefTitle leukocyte function in vitro.
RefLoc Blood:4834-4842 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IdRefSeq: D0134: 13818
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature dna; 2
Feature /rnalink: 4
Feature /name: deletion
Feature /loc: IdRefSeq: D0134: 14557
Feature /change: -t
Feature /genomic_region: exon; 11
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1071
Feature /codon: ggg -> agg; 1
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1424
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 308
Feature /change: G -> R
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 425
Feature /change: P -> PRAX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IdRefSeq: D0134: 13818
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature dna; 8
Feature /rnalink: 10
Feature /name: deletion
Feature /loc: IdRefSeq: D0134: 14557
Feature /change: -t
Feature /genomic_region: exon; 11
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1071
Feature /codon: ggg -> agg; 1
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: frameshift
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1424
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 308
Feature /change: G -> R
Feature aa; 12
Feature /rnalink: 10
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 425
Feature /change: P -> PRAX
Symptoms Severe bleeding tendency from birth; Persistant gram-
Symptoms positive and negative bacterial infections;
Sex XX
Ethnic origin African American
//
ID R509X(1),R509X(1); standard; MUTATION;
Accession F0001
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code LAD-A
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18779414
RefAuthors Mory, A., Feigelson, S. W., Yarali, N., Kilic, S. S.,
RefAuthors Bayhan, G. I., Gershoni-Baruch, R., Etzioni, A., Alon, R.
RefTitle Kindlin-3: a new gene involved in the pathogenesis of LAD-
RefTitle III.
RefLoc Blood:2591 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Sex XX
Ethnic origin Turkey
Comment Parents were both heterozygous for the same mutation
//
ID R509X(2),R509X(2); standard; MUTATION;
Accession F0002
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code LAD-K
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18779414
RefAuthors Mory, A., Feigelson, S. W., Yarali, N., Kilic, S. S.,
RefAuthors Bayhan, G. I., Gershoni-Baruch, R., Etzioni, A., Alon, R.
RefTitle Kindlin-3: a new gene involved in the pathogenesis of LAD-
RefTitle III.
RefLoc Blood:2591 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Ethnic origin Turkey
Comment Parents were both heterozygous for the same mutation
//
ID R509X(3),R509X(3); standard; MUTATION;
Accession F0003
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code LAD-N
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18779414
RefAuthors Mory, A., Feigelson, S. W., Yarali, N., Kilic, S. S.,
RefAuthors Bayhan, G. I., Gershoni-Baruch, R., Etzioni, A., Alon, R.
RefTitle Kindlin-3: a new gene involved in the pathogenesis of LAD-
RefTitle III.
RefLoc Blood:2591 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Ethnic origin Turkey
Comment Parents were both heterozygous for the same mutation
//
ID R509X(4),R509X(4); standard; MUTATION;
Accession F0004
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F1N1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Skin infection; Perianal abscesses; necrotic skin lesions;
Symptoms Splenomegaly;
Sex XY
Ethnic origin Turkey
Parents Consanguineous
//
ID R509X(5),R509X(5); standard; MUTATION;
Accession F0005
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F2N1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Skin infection; Petechiae; Perianal abscesses;
Sex XY
Ethnic origin Turkey
Parents Consanguineous
//
ID R509X(6),R509X(6); standard; MUTATION;
Accession F0006
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F3N1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms CNS bleeding; Hepatosplenomegaly;
Sex XY
Ethnic origin Turkey
Parents Consanguineous
//
ID R509X(7a),R509X(7a); standard; MUTATION;
Accession F0007
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F4N1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Omphalitis; Necrotic skin lesions;
Symptoms Transient hepatosplenomegaly;
Sex XY
Ethnic origin Turkey
Relative FERMT3base; F0008
Parents Consanguineous
Comment Patient died of Pseudomonas sepsis and soft tissue
Comment infection
//
ID R509X(7b),R509X(7b); standard; MUTATION;
Accession F0008
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F4N2
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Nose bleeding; Transient hepatosplenomegaly;
Sex XY
Ethnic origin Turkey
Relative FERMT3base; F0007
Parents Consanguineous
Comment Patient died of nose bleeding
//
ID R509X(8),R509X(8); standard; MUTATION;
Accession F0009
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F5N1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Omphalitis; CNS bleeding; Anemia; Hepatosplenomegaly;
Symptoms Perianal abscesses; Coarse face; Large tongue;
Sex XY
Ethnic origin Turkey
Parents Consanguineous
//
ID R509X(9a),R509X(9a); standard; MUTATION;
Accession F0010
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F6N1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Anemia; Necrotic skin lesions; Anus paraeter;
Symptoms Transient hepatosplenomegaly;
Sex XX
Ethnic origin Turkey
Relative FERMT3base; F0011
Parents Consanguineous
//
ID R509X(9b),R509X(9b); standard; MUTATION;
Accession F0011
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F6N2
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Anorectal fistula; Necrotic skin lesions; Anus paraeter;
Symptoms Transient hepatosplenomegaly;
Sex XX
Ethnic origin Turkey
Relative FERMT3base; F0010
Parents Consanguineous
//
ID R509X(10),R509X(10); standard; MUTATION;
Accession F0012
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F7N1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17185466
RefAuthors Kuijpers, T. W., van Bruggen, R., Kamerbeek, N., Tool, A.
RefAuthors T., Hicsonmez, G., Gurgey, A., Karow, A., Verhoeven, A.
RefAuthors J., Seeger, K., Sanal, O., Niemeyer, C., Roos, D.
RefTitle Natural history and early diagnosis of LAD-1/variant
RefTitle syndrome.
RefLoc Blood:3529-3537 (2007)
RefNumber [2]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Symptoms Sepsis
Symptoms Bacterial
Symptoms Sepsis; Mucosal and skin bleeding; Hepatosplenomegaly;
Sex XY
Ethnic origin Turkey
Parents Consanguineous
//
ID R509X(11),R509X(11); standard; MUTATION;
Accession F0017
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F2
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19234463
RefAuthors Svensson, L., Howarth, K., McDowall, A., Patzak, I.,
RefAuthors Evans, R., Ussar, S., Moser, M., Metin, A., Fried, M.,
RefAuthors Tomlinson, I., Hogg, N.
RefTitle Leukocyte adhesion deficiency-III is caused by mutations
RefTitle in KINDLIN3 affecting integrin activation.
RefLoc Nat Med:306-312 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Ethnic origin Turkey
//
ID R509X(12),R509X(12); standard; MUTATION;
Accession F0018
Systematic name Allele 1 and 2: g.14916C>T, c.1525C>T, r.1525c>u, p.Arg509X
Original code F3
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19234463
RefAuthors Svensson, L., Howarth, K., McDowall, A., Patzak, I.,
RefAuthors Evans, R., Ussar, S., Moser, M., Metin, A., Fried, M.,
RefAuthors Tomlinson, I., Hogg, N.
RefTitle Leukocyte adhesion deficiency-III is caused by mutations
RefTitle in KINDLIN3 affecting integrin activation.
RefLoc Nat Med:306-312 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 14916
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0134; GI:215983055; : 1674
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 509
Feature /change: R -> X
Ethnic origin Turkey
//
ID R573X(1),R573X(1); standard; MUTATION;
Accession F0013
Systematic name Allele 1 and 2: g.17361C>T, c.1717C>T, r.1717c>u, p.Arg573X
Original code F8
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19064721
RefAuthors Kuijpers, T. W., van de Vijver, E., Weterman, M. A., de
RefAuthors Boer, M., Tool, A. T., van den Berg, T. K., Moser, M.,
RefAuthors Jakobs, M. E., Seeger, K., Sanal, O., Unal, S., Cetin, M.,
RefAuthors Roos, D., Verhoeven, A. J., Baas, F.
RefTitle LAD-1/variant syndrome is caused by mutations in FERMT3.
RefLoc Blood:4740-4746 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17361
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: IdRefSeq: C0134; GI:215983055; : 1866
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 573
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17361
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: IdRefSeq: C0134; GI:215983055; : 1866
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 573
Feature /change: R -> X
Sex XX
Comment Both parents of the patient were heterozygous for the same
Comment mutation
//
ID R573X(2a),R573X(2a); standard; MUTATION;
Accession F0022
Systematic name Allele 1 and 2: g.17361C>T, c.1717C>T, r.1717c>u, p.Arg573X
Original code P1
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20216991
RefAuthors Jurk, K., Schulz, A. S., Kehrel, B. E., Rapple, D.,
RefAuthors Schulze, H., Mobest, D., Friedrich, W. W., Omran, H.,
RefAuthors Deak, E., Henschler, R., Scheele, J. S., Zieger, B.
RefTitle Novel integrin-dependent platelet malfunction in siblings
RefTitle with leukocyte adhesion deficiency-III (LAD-III) caused by
RefTitle a point mutation in FERMT3.
RefLoc Thromb Haemost:1053-1064 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17361
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: IdRefSeq: C0134; GI:215983055; : 1866
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 573
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17361
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: IdRefSeq: C0134; GI:215983055; : 1866
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 573
Feature /change: R -> X
Symptoms Recurrent spontaneous bleeding of oral mucosa; Epistaxis;
Symptoms Recurrent bacterial infections; Splenomegaly;
Symptoms Leukocytosis; Hypochromic anaemia;
Sex XY
Relative FERMT3base; F0023 brother
Treatment HSCT from HLA-matched unrelated CMV-seropositive female
Treatment donor
//
ID R573X(2b),R573X(2b); standard; MUTATION;
Accession F0023
Systematic name Allele 1 and 2: g.17361C>T, c.1717C>T, r.1717c>u, p.Arg573X
Original code P2
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20216991
RefAuthors Jurk, K., Schulz, A. S., Kehrel, B. E., Rapple, D.,
RefAuthors Schulze, H., Mobest, D., Friedrich, W. W., Omran, H.,
RefAuthors Deak, E., Henschler, R., Scheele, J. S., Zieger, B.
RefTitle Novel integrin-dependent platelet malfunction in siblings
RefTitle with leukocyte adhesion deficiency-III (LAD-III) caused by
RefTitle a point mutation in FERMT3.
RefLoc Thromb Haemost:1053-1064 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17361
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: IdRefSeq: C0134; GI:215983055; : 1866
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 573
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17361
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: IdRefSeq: C0134; GI:215983055; : 1866
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q86UX7; URP2_HUMAN: 573
Feature /change: R -> X
Symptoms Recurrent spontaneous bleeding of oral mucosa; Epistaxis;
Symptoms Recurrent bacterial infections; Splenomegaly;
Symptoms Leukocytosis; Hypochromic anaemia; Osteoslcerosis;
Sex XY
Relative FERMT3base; F0022 brother
//
ID Intron 2(1),Intron 2(1); standard; MUTATION;
Accession F0025
Systematic name Allele 1 and 2: g.4876A>C, c.A>C, r.a>c
Description Allele 1 and 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Sep-2011 (Rel. 1, Created)
Date 08-Sep-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 21441448
RefAuthors Robert, P., Canault, M., Farnarier, C., Nurden, A.,
RefAuthors Grosdidier, C., Barlogis, V., Bongrand, P., Pierres, A.,
RefAuthors Chambost, H., Alessi, M. C.
RefTitle A novel leukocyte adhesion deficiency III variant: kindlin-
RefTitle 3 deficiency results in integrin- and nonintegrin-related
RefTitle defects in different steps of leukocyte adhesion.
RefLoc J Immunol:5273-5283 (2011)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 4876
Feature /change: a -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 4876
Feature /change: a -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Severe pneumopathy
Sex XY
Ethnic origin gypsy
Parents Consanguineous
//
ID Intron 13(1),Intron 13(1); standard; MUTATION;
Accession F0016
Systematic name Allele 1 and 2: g.17313A>G, c.1671-2A>G, r.1671-2a>g
Original code F1
Description Allele 1 and 2: A point mutation in the intron 13 leading
Description to aberrant splicing
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19234463
RefAuthors Svensson, L., Howarth, K., McDowall, A., Patzak, I.,
RefAuthors Evans, R., Ussar, S., Moser, M., Metin, A., Fried, M.,
RefAuthors Tomlinson, I., Hogg, N.
RefTitle Leukocyte adhesion deficiency-III is caused by mutations
RefTitle in KINDLIN3 affecting integrin activation.
RefLoc Nat Med:306-312 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17313
Feature /change: a -> g
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0134: 17313
Feature /change: a -> g
Feature /genomic_region: intron; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Maltese
//
//
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