Database UNGbase
Version 1.0
File ungpub.html
Date 16-Jun-2011
Curator Anne Durandy
Address Institut National de la Sante et de la Recherche Medicale
Address Unite 429, Hopital Necker-Enfants Malades, 75015 Paris,
Address France
Email durandy@necker.fr
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/UNGbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF127.html
Gene UNG
Disease UNG deficiency (HIGM5)
OMIM 191525
Sequence IDRefSeq:D0092; IDRefSeq:C0092; UniProt:P13051
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R88C(1),?; standard; MUTATION;
Accession U0004
Systematic name Allele 1: g.1952C>T, c.262C>T, r.262c>u, p.Arg88Cys
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 06-Aug-2010 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17029639
RefAuthors Broderick, P., Bagratuni, T., Vijayakrishnan, J., Lubbe,
RefAuthors S., Chandler, I., Houlston, R. S.
RefTitle Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1
RefTitle genes in familial colorectal cancer predisposition.
RefLoc BMC Cancer:243 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0092: 1952
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0092; GI:19718750; UNGC: 332
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13051; UNG_HUMAN: 88
Feature /change: R -> C
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 Colonic cancer;
Sex XY
//
ID #P131X143(1),#I190X226(1); standard; MUTATION;
Accession U0001
Systematic name Allele 1: g.2632delC, c.392delC, r.392delc, p.Pro131fsX13
Systematic name Allele 2: g.6265_6266delTA, c.569_570delTA, r.569_570delua,
Systematic name Ile190fsX37
Original code Patient 1
Description Allele 1: a frame shift deletion mutation in the exon 3
Description leading to a premature stop codon
Description Allele 2: a frame shift deletion in the exon 5 leading to a
Description premature stop codon
Date 20-Oct-2003 (Rel. 1, Created)
Date 01-Oct-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12958596
RefAuthors Imai, K., Slupphaug, G., Lee, W. I., Revy, P., Nonoyama,
RefAuthors S., Catalan, N., Yel, L., Forveille, M., Kavli, B.,
RefAuthors Krokan, H. E., Ochs, H. D., Fischer, A., Durandy, A.
RefTitle Human uracil-DNA glycosylase deficiency associated with
RefTitle profoundly impaired immunoglobulin class-switch
RefTitle recombination.
RefLoc Nat Immunol 4:1023-1028 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0092: 2632
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0092: 462
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13051; UNG_HUMAN: 131
Feature /change: P -> HTKSSPGPRC VTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0092: 6265..6266
Feature /change: -ta
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0092:
Feature /loc: 639..640
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13051; UNG_HUMAN: 190
Feature /change: I -> RGFCSSWPWR FIWVGQARCS PSQRCPHGSC PSSQLSX
Protein Defects of UNG expression
Parents Non-consanguineous
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Other clinical features: lymph node hyperplasia
Treatment IVIG: constant
Treatment Still on IVIG
IgA 48 mg/dL
IgG 50 mg/dL
IgM 740 mg/dL
//
ID #I143X159(1),#I143X159(1); standard; MUTATION;
Accession U0003
Systematic name Allele 1 and 2: g.2667_2668delAT, c.427_428delAT,
Systematic name r.427_428delau, p.Ile143fsX17
Original code Patient 3 ref. [1]; P82 ref. [2]
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 21-Oct-2003 (Rel. 1, Created)
Date 15-Jun-2010 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 12958596
RefAuthors Imai, K., Slupphaug, G., Lee, W. I., Revy, P., Nonoyama,
RefAuthors S., Catalan, N., Yel, L., Forveille, M., Kavli, B.,
RefAuthors Krokan, H. E., Ochs, H. D., Fischer, A., Durandy, A.
RefTitle Human uracil-DNA glycosylase deficiency associated with
RefTitle profoundly impaired immunoglobulin class-switch
RefTitle recombination.
RefLoc Nat Immunol 4:1023-1028 (2003)
RefNumber [2]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper immunoglobulin M (igM) syndrome.
RefLoc Blood:1881-1890 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0092: 2667..2668
Feature /change: -at
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0092:
Feature /loc: 497..498
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13051; UNG_HUMAN: 143
Feature /change: I -> KRCEGCHPGT GSISWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0092: 2667..2668
Feature /change: -at
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0092:
Feature /loc: 497..498
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P13051; UNG_HUMAN: 143
Feature /change: I -> KRCEGCHPGT GSISWTX
Sex XY
Protein UNG mutation
Protein Defects of UNG expression
Parents Consanguineous
Symptoms Upper respiratory tract infections
Symptoms Autoimmune manifestations
Symptoms Other clinical manifestations: Sjögren syndrome
Symptoms Other clinical features: chronic epididymitis, chronical
Symptoms and mediastinal lymph node hyperplasia
Treatment IVIG: constant
Treatment Still on IVIG
IgA <7 mg/dL
IgG 209 mg/dL
IgM 785 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 3568/mm3
Lymphocytes total CD4: 1268/mm3
Lymphocytes total CD8: 687/mm3
//
ID F251S(1),F251S(1); standard; MUTATION;
Accession U0002
Systematic name Allele 1 and 2: g.6953T>C, c.752T>C, r.752u>c, p.Phe251Ser
Original code Patient 2
Description Allele 1 and 2: a point mutation in the exon 6 leading to
Description an amino acid change
Date 20-Oct-2003 (Rel. 1, Created)
Date 01-Oct-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12958596
RefAuthors Imai, K., Slupphaug, G., Lee, W. I., Revy, P., Nonoyama,
RefAuthors S., Catalan, N., Yel, L., Forveille, M., Kavli, B.,
RefAuthors Krokan, H. E., Ochs, H. D., Fischer, A., Durandy, A.
RefTitle Human uracil-DNA glycosylase deficiency associated with
RefTitle profoundly impaired immunoglobulin class-switch
RefTitle recombination.
RefLoc Nat Immunol 4:1023-1028 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0092: 6953
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0092: 822
Feature /codon: ttc -> tcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P13051; UNG_HUMAN: 251
Feature /change: F -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0092: 6953
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0092: 822
Feature /codon: ttc -> tcc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P13051; UNG_HUMAN: 251
Feature /change: F -> S
Protein UNG mutation
Protein Defects of UNG expression
Parents Non-consanguineous
Treatment IVIG: constant
Treatment Still on IVIG
IgA 25 mg/dL
IgG <50 mg/dL
IgM 267 mg/dL
//
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