Database SLC35C1base
Version 1.0
File slc35c1pub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/SLC35C1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF43.html
Gene SLC35C1
Disease Leukocyte adhesion deficiency II (LAD-II)
OMIM 605881
Sequence IDRefSeq:D0036; IDRefSeq:C0036; UniProt:Q96A29
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R147C(1),R147C(1); standard; MUTATION;
Accession A0001
Systematic name Allele 1 and 2: g.1434C>T, c.439C>T, p.R147C
Original code A.C.
Description Allele 1 and 2: point mutation in the exon 1 leading to an
Description amino acid change
Date 17-Sep-2002 (Rel. 1, Created)
Date 17-Sep-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11326280
RefAuthors Lubke, T., Marquardt, T., Etzioni, A., Hartmann, E., von
RefAuthors Figura, K., Korner, C.
RefTitle Complementation cloning identifies CDG-IIc, a new type of
RefTitle congenital disorders of glycosylation, as a GDP-fucose
RefTitle transporter deficiency.
RefLoc Nat Genet 28:73-76 (2001)
RefNumber [2]
RefCrossRef PUBMED; 11326279
RefAuthors Luhn, K., Wild, M. K., Eckhardt, M., Gerardy-Schahn, R.,
RefAuthors Vestweber, D.
RefTitle The gene defective in leukocyte adhesion deficiency II
RefTitle encodes a putative GDP-fucose transporter.
RefLoc Nat Genet 28:69-72 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 1434
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0036: 439
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 147
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 1434
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0036: 439
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 147
Feature /change: R -> C
Ethnic origin Caucasoid; Turkey
Comment -!-The patient had mental retardation, short stature,
Comment -!-facial stigmata and recurrent bacterial peripheral
Comment -!-infections with persistently elevated peripheral
Comment -!-leucosytes
//
ID #W196X230(1),#W196X230(1); standard; MUTATION;
Accession A0004
Systematic name Allele 1 and 2: g.6022delG, c.588delG, r.588delg,
Systematic name p.Trp196fsX35
Original code 7-month-old boy
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 03-Mar-2004 (Rel. 1, Created)
Date 03-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12406889
RefAuthors Hidalgo, A., Ma, S., Peired, A. J., Weiss, L. A.,
RefAuthors Cunningham-Rundles, C., Frenette, P. S.
RefTitle Insights into leukocyte adhesion deficiency type 2 from a
RefTitle novel mutation in the GDP-fucose transporter gene.
RefLoc Blood 101:1705-1712 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0036: 6022
Feature /change: -g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0036: 588
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 196
Feature /change: W -> CWAPSSACWL ASVSRSTPST PRRCSRRWTA ASGAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0036: 6022
Feature /change: -g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0036: 588
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 196
Feature /change: W -> CWAPSSACWL ASVSRSTPST PRRCSRRWTA ASGAX
Sex XY
Ethnic origin Caucasoid; Brazilia
Parents Consanguineous
Comment -!-The patient had microcephaly, multiple choroid plexus
Comment -!-cysts, hypospadias, bilateral hydronephrosis,
Comment -!-developmental delay, recurrent infections, fever,
Comment -!-gastroenteritis, and severe cellulitis.
//
ID T308R(1),T308R(1); ; MUTATION;
Accession A0002
Systematic name Allele 1 and 2: g.6357C>G, c.923C>G, p.T308R
Original code Y.W.
Description Allele 1 and 2: point mutation in the exon 2 leading to an
Description amino acid change
Date 17-Sep-2002 (Rel. 1, Created)
Date 17-Sep-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11326280
RefAuthors Lubke, T., Marquardt, T., Etzioni, A., Hartmann, E., von
RefAuthors Figura, K., Korner, C.
RefTitle Complementation cloning identifies CDG-IIc, a new type of
RefTitle congenital disorders of glycosylation, as a GDP-fucose
RefTitle transporter deficiency.
RefLoc Nat Genet 28:73-76 (2001)
RefNumber [2]
RefCrossRef PUBMED; 9723680
RefAuthors Etzioni, A., Gershoni-Baruch, R., Pollack, S., Shehadeh,
RefAuthors N.
RefTitle Leukocyte adhesion deficiency type II: long-term follow-
RefTitle up.
RefLoc J Allergy Clin Immunol 102:323-324 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0036: 923
Feature /codon: aca -> aga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0036: 923
Feature /codon: aca -> aga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
Ethnic origin Arab, Israel
Comment -!-Severe growth defect and mental retardation
//
ID T308R(2),T308R(2); ; MUTATION;
Accession A0003
Systematic name Allele 1 and 2: g.6357C>G, c.923C>G, p.T308R
Original code M.
Description Allele 1 and 2: point mutation in the exon 2 leading to an
Description amino acid change
Date 17-Sep-2002 (Rel. 1, Created)
Date 17-Sep-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11326280
RefAuthors Lubke, T., Marquardt, T., Etzioni, A., Hartmann, E., von
RefAuthors Figura, K., Korner, C.
RefTitle Complementation cloning identifies CDG-IIc, a new type of
RefTitle congenital disorders of glycosylation, as a GDP-fucose
RefTitle transporter deficiency.
RefLoc Nat Genet 28:73-76 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0036: 923
Feature /codon: aca -> aga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0036: 923
Feature /codon: aca -> aga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
Ethnic origin Arab, Israel
Comment -!-Severe growth defect and mental retardation
//
ID T308R(3),T308R(3); standard; MUTATION;
Accession A0005
Systematic name Allele 1 and 2: g.6357C>G, c.923C>G, r.923c>g, p.Thr308Arg
Original code P1
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12116250
RefAuthors Etzioni, A., Sturla, L., Antonellis, A., Green, E. D.,
RefAuthors Gershoni-Baruch, R., Berninsone, P. M., Hirschberg, C. B.,
RefAuthors Tonetti, M.
RefTitle Leukocyte adhesion deficiency (LAD) type II/carbohydrate
RefTitle deficient glycoprotein (CDG) IIc founder effect and
RefTitle genotype/phenotype correlation.
RefLoc Am J Med Genet:131-135 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 923
Feature /codon: aca -> aga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 923
Feature /codon: aca -> aga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
Symptoms Recurrent pulmonary infections; Failure to thrive;
Symptoms Brachycephaly; Broad nasal tip; Severe growth and mental
Symptoms retardation; Periodontitis;
//
ID T308R(4),T308R(4); standard; MUTATION;
Accession A0006
Systematic name Allele 1 and 2: g.6357C>G, c.923C>G, r.923c>g, p.Thr308Arg
Original code P2
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12116250
RefAuthors Etzioni, A., Sturla, L., Antonellis, A., Green, E. D.,
RefAuthors Gershoni-Baruch, R., Berninsone, P. M., Hirschberg, C. B.,
RefAuthors Tonetti, M.
RefTitle Leukocyte adhesion deficiency (LAD) type II/carbohydrate
RefTitle deficient glycoprotein (CDG) IIc founder effect and
RefTitle genotype/phenotype correlation.
RefLoc Am J Med Genet:131-135 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 923
Feature /codon: aca -> aga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 923
Feature /codon: aca -> aga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
Symptoms Recurrent pulmonary infections; Failure to thrive;
Symptoms Brachycephaly; Broad nasal tip; Severe growth and mental
Symptoms retardation; Periodontitis;
//
ID T308R(5),T308R(5); standard; MUTATION;
Accession A0007
Systematic name Allele 1 and 2: g.6357C>G, c.923C>G, r.923c>g, p.Thr308Arg
Original code P3
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12116250
RefAuthors Etzioni, A., Sturla, L., Antonellis, A., Green, E. D.,
RefAuthors Gershoni-Baruch, R., Berninsone, P. M., Hirschberg, C. B.,
RefAuthors Tonetti, M.
RefTitle Leukocyte adhesion deficiency (LAD) type II/carbohydrate
RefTitle deficient glycoprotein (CDG) IIc founder effect and
RefTitle genotype/phenotype correlation.
RefLoc Am J Med Genet:131-135 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 923
Feature /codon: aca -> aga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6357
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 923
Feature /codon: aca -> aga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 308
Feature /change: T -> R
Symptoms Recurrent pulmonary infections; Failure to thrive;
Symptoms Brachycephaly; Broad nasal tip; Severe growth and mental
Symptoms retardation; Periodontitis;
//
ID W323X(1),W323X(1); standard; MUTATION;
Accession A0008
Systematic name Allele 1 and 2: g.6403G>A, c.969G>A, r.969g>a, p.Trp323X
Original code Patient G
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; 16455955
RefAuthors Helmus, Y., Denecke, J., Yakubenia, S., Robinson, P.,
RefAuthors Luhn, K., Watson, D. L., McGrogan, P. J., Vestweber, D.,
RefAuthors Marquardt, T., Wild, M. K.
RefTitle Leukocyte adhesion deficiency II patients with a dual
RefTitle defect of the GDP-fucose transporter.
RefLoc Blood:3959-3966 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6403
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 969
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 323
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6403
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 969
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 323
Feature /change: W -> X
Symptoms Poor feeding; Failure to thrive; Hypotonia;
Age 4 mo
Sex XX
Comment Both parents and apparently healthy sibling were
Comment heterozygous for the same mutation
//
ID Y337C(1),Y337C(1); standard; MUTATION;
Accession A0009
Systematic name Allele 1 and 2: g.6444A>G, c.1010A>G, r.1010a>g,
Systematic name p.Tyr337Cys
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 11-Oct-2010 (Rel. 1, Created)
Date 11-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20099014
RefAuthors Gazit, Y., Mory, A., Etzioni, A., Frydman, M., Scheuerman,
RefAuthors O., Gershoni-Baruch, R., Garty, B. Z.
RefTitle Leukocyte adhesion deficiency type II: long-term follow-up
RefTitle and review of the literature.
RefLoc J Clin Immunol:308-313 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6444
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 1010
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 337
Feature /change: Y -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0036: 6444
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0036; GI:13940505; SLC35C1C: 1010
Feature /codon: tac -> tgc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96A29; FUCT1_HUMAN: 337
Feature /change: Y -> C
Symptoms Hypotonia; Recurrent purulent otitis media; Episodes of
Symptoms pneumonia; Conductive hearing loss; Urinary tract
Symptoms infections; Gastroenteritis; Aseptic meningitis; Recurrent
Symptoms periodontitis;
Sex XY
Ethnic origin Arab
Parents Consanguineous
//
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