Database DNMT3Bbase
Version 1.5
File dnmt3bpub.txt
Date 21-Aug-2008
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/DNMT3Bbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF124.html
Gene DNMT3B
Disease Immunodeficiency, centromere instability and facial
Disease anomalies (ICF syndrome)
OMIM 242860
GDB 9862955
Sequence IDRefSeq:D0096; IDRefSeq:C0096; UniProt: Q9UBC3
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
Comments database logo designed by Tommi Kinturi
//
ID Q30X(1),R840Q(1); standard; MUTATION; ,C5MTase
Accession A0015
Systematic name Allele 1: g.40317C>T, c.88C>T, r.88c>u, p.Gln30X
Systematic name Allele 2: g.67766G>A, c.2519G>A, r.2519g>a, p.Arg840Gln
Original code Patient 1
Description Allele 1: A point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the exon 23 leading to an
Description amino acid change
Date 27-Feb-2007 (Rel. 1, Created)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12239717
RefAuthors Shirohzu, H., Kubota, T., Kumazawa, A., Sado, T., Chijiwa,
RefAuthors T., Inagaki, K., Suetake, I., Tajima, S., Wakui, K., Miki,
RefAuthors Y., Hayashi, M., Fukushima, Y., Sasaki, H.
RefTitle Three novel DNMT3B mutations in japanese patients with ICF
RefTitle syndrome.
RefLoc Am J Med Genet:31-37 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 40317
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0096: 202
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 30
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67766
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2633
Feature /codon: cga -> caa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 840
Feature /change: R -> Q
Feature /domain: C5MTase
Diagnosis ICF syndrome
Symptoms Clinical characteristics of patients
Symptoms Hypertelorism; Low-set ears; Epicanthal folds;
Symptoms Macroglossia; recurrent infectious diseases in
Symptoms childhood;
Age 20
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID @S61X158(1), Intron 21(1); standard; MUTATION; N-terminal,
ID C5MTASE
Accession A0001
Original code G
Description Allele 1; insertion in the N-terminal part of the protein
Description Allele 2; point mutation in the intron 21 or 22 leads to
Description deletion in the methyltranseferase domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10647011
RefAuthors Xu, G. L., Bestor, T. H., Bourc'his, D., Hsieh, C. L.,
RefAuthors Tommerup, N., Bugge, M., Hulten, M., Qu, X., Russo, J. J.,
RefAuthors Viegas-Pequignot, E.
RefTitle Chromosome instability and immunodeficiency syndrome
RefTitle caused by mutations in a DNA methyltransferase gene.
RefLoc Nature:187-191 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /change: +1 bp
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: insertion
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature stop
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 158
Feature /domain: N-terminal part of the protein
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0096: 65452
Feature /change: g -> a
Feature /genomic_region: intron: 21
Feature dna; 5
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0096: 65903
Feature /change: t -> c
Feature /genomic_region: intron: 21
Feature dna; 6
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67577
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron: 22
Feature rna; 7
Feature /dnalink:
Feature /aalink: 8
Feature /name: deletion
Feature /loc: EMBL: AF156488; 2346..2535
Feature aa; 6
Feature /rnalink: 5
Feature /name:
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 745
Feature /change: P -> SLAFLCTTQTCPTWAVVPARSCWEGPGACLSSDTSSPLX
Feature /domain: C5MTASE
//
ID R54X(1),V699G(1); standard; MUTATION; N-terminal, C5MTASE
Accession A0010
Original code P5
Description Allele 1; nonsense mutation in the N-terminal domain
Description Allele 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefAuthors Weemaes, C., Wijmenga, C., ICF study group
RefTitle The spectrum of DNMT3B mutations in ICF syndrome
RefLoc IXth meeting of the European society for immunodeficiencies
RefLoc Program and abstracts p. 77
RefNumber [2]
RefCrossRef PUBMED; 11102980
RefAuthors Wijmenga, C., Hansen, R. S., Gimelli, G., Bjorck, E. J.,
RefAuthors Davies, E. G., Valentine, D., Belohradsky, B. H., van
RefAuthors Dongen, J. J., Smeets, D. F., van den Heuvel, L. P.,
RefAuthors Luyten, J. A., Strengman, E., Weemaes, C., Pearson, P. L.
RefTitle Genetic variation in ICF syndrome: evidence for genetic
RefTitle heterogeneity.
RefLoc Hum Mutat:509-517 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 41276
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon: 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 274
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 54
Feature /change: R -> X
Feature /domain: N-terminus
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 61283
Feature /change: t -> g
Feature /genomic_region: exon; 19
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2210
Feature /codon: gtt -> ggt; 2
Feature aa; 6
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 699
Feature /change: V -> G
Feature /domain: C5MTASE
Symptoms Not typical dysmorphic fetures, pulmonary infections,
Symptoms delayed development
Sex XY
Family history De novo
IgG <0.45
IgA <0.02
IgM <0.13
B cells 7%
T cells CD3+ 55%
T cells CD4+ 31%
T cells CD8+ 25%
//
ID Q204X(1), V606A(1); standard; MUTATION; N-terminal, C5MTASE
Accession A0011
Original code P14
Description Allele 1; nonsense mutation in the N-terminal domain
Description Allele 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefAuthors Weemaes, C., Wijmenga, C., ICF study group
RefTitle The spectrum of DNMT3B mutations in ICF syndrome
RefLoc IXth meeting of the European society for immunodeficiencies
RefLoc Program and abstracts p. 77
RefNumber [2]
RefCrossRef PUBMED; 11102980
RefAuthors Wijmenga, C., Hansen, R. S., Gimelli, G., Bjorck, E. J.,
RefAuthors Davies, E. G., Valentine, D., Belohradsky, B. H., van
RefAuthors Dongen, J. J., Smeets, D. F., van den Heuvel, L. P.,
RefAuthors Luyten, J. A., Strengman, E., Weemaes, C., Pearson, P. L.
RefTitle Genetic variation in ICF syndrome: evidence for genetic
RefTitle heterogeneity.
RefLoc Hum Mutat:509-517 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 47313
Feature /change: c -> t
Feature /genomic_region: exon: 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0096: 724
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature stop
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 204
Feature /change: Q -> X
Feature /domain:
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 60116
Feature /change: t -> c
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 1931
Feature /codon: gtg -> gcg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 606
Feature /change: V -> A
Feature /domain: C5MTASE
Symptoms Classical dysmorphic features, pulmonary infections,
Symptoms development delayed
Sex XX
Family history De novo
IgG decreased
IgA decreased
IgM decreased
//
ID S270P(1a),S270P(1a); standard; MUTATION; PWWP,PWWP
Accession A0016
Systematic name Allele 1 and 2: g.48913T>C, c.808T>C, r.808u>c, p.Ser270Pro
Original code Patient 2
Description Allele 1 and 2: A point mutation in the exon 7 leading to
Description an amino acid change in the PWWP domain
Date 27-Feb-2007 (Rel. 1, Created)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12239717
RefAuthors Shirohzu, H., Kubota, T., Kumazawa, A., Sado, T., Chijiwa,
RefAuthors T., Inagaki, K., Suetake, I., Tajima, S., Wakui, K., Miki,
RefAuthors Y., Hayashi, M., Fukushima, Y., Sasaki, H.
RefTitle Three novel DNMT3B mutations in japanese patients with ICF
RefTitle syndrome.
RefLoc Am J Med Genet:31-37 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 48913
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 922
Feature /codon: tcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 270
Feature /change: S -> P
Feature /domain: PWWP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 48913
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 922
Feature /codon: tcc -> ccc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 270
Feature /change: S -> P
Feature /domain: PWWP
Diagnosis ICF syndrome
Symptoms Clinical characteristics of patients
Symptoms Hypertelorism; Low-set ears; Epicanthal folds; recurrent
Symptoms ear infections in infancy;
Age 4
Sex XX
Ethnic origin Mongoloid; Japan
Parents Consanguineous
Relative DNMT3Bbase; A0017 brother
//
ID S270P(1b),S270P(1b); standard; MUTATION; PWWP,PWWP
Accession A0017
Systematic name Allele 1 and 2: g.48913T>C, c.808T>C, r.808u>c, p.Ser270Pro
Original code Patient 3
Description Allele 1 and 2: A point mutation in the exon 7 leading to
Description an amino acid change in the PWWP domain
Date 27-Feb-2007 (Rel. 1, Created)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12239717
RefAuthors Shirohzu, H., Kubota, T., Kumazawa, A., Sado, T., Chijiwa,
RefAuthors T., Inagaki, K., Suetake, I., Tajima, S., Wakui, K., Miki,
RefAuthors Y., Hayashi, M., Fukushima, Y., Sasaki, H.
RefTitle Three novel DNMT3B mutations in japanese patients with ICF
RefTitle syndrome.
RefLoc Am J Med Genet:31-37 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 48913
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 922
Feature /codon: tcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 270
Feature /change: S -> P
Feature /domain: PWWP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 48913
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 922
Feature /codon: tcc -> ccc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 270
Feature /change: S -> P
Feature /domain: PWWP
Diagnosis ICF syndrome
Symptoms Clinical characteristics of patients
Symptoms Hypertelorism; Low-set ears; Epicanthal folds;
Symptoms bronchiolitis in a neonatal period;
Age 11 mo
Sex XY
Ethnic origin Mongoloid; Japan
Parents Consanguineous
Relative DNMT3Bbase; A0016 sister
//
ID A585V(1), A585V(1); standard; MUTATION; C5MTASE, C5MTASE
Accession A0012
Original code P9
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefAuthors Weemaes, C., Wijmenga, C., ICF study group
RefTitle The spectrum of DNMT3B mutations in ICF syndrome
RefLoc IXth meeting of the European society for immunodeficiencies
RefLoc Program and abstracts p. 77
RefNumber [2]
RefCrossRef PUBMED; 11102980
RefAuthors Wijmenga, C., Hansen, R. S., Gimelli, G., Bjorck, E. J.,
RefAuthors Davies, E. G., Valentine, D., Belohradsky, B. H., van
RefAuthors Dongen, J. J., Smeets, D. F., van den Heuvel, L. P.,
RefAuthors Luyten, J. A., Strengman, E., Weemaes, C., Pearson, P. L.
RefTitle Genetic variation in ICF syndrome: evidence for genetic
RefTitle heterogeneity.
RefLoc Hum Mutat:509-517 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AL03571: 59229
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 1868
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 585
Feature /change: A -> V
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AL03571: 59229
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 1868
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 585
Feature /change: A -> V
Feature /domain: C5MTASE
Symptoms Classical dysmorphic features
Sex XX
IgG decreased
IgA decreased
IgM decreased
//
ID A603T(1), Intron 22(2); standard; MUTATION; C5MTASE,
ID C5MTASE
Accession A0006
Original code P4
Description Allele 1; missense mutation in the C5MTASE domain
Description Allele 2; inframe insertion in the C5MTASE domain
Date 21-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10588719
RefAuthors Hansen, R. S., Wijmenga, C., Luo, P., Stanek, A. M.,
RefAuthors Canfield, T. K., Weemaes, C. M., Gartler, S. M.
RefTitle The DNMT3B DNA methyltransferase gene is mutated in the
RefTitle ICF immunodeficiency syndrome.
RefLoc Proc Natl Acad Sci U S A:14412-14417 (1999)
RefNumber [2]
RefCrossRef PUBMED; 3361388
RefAuthors Carpenter, N. J., Filipovich, A., Blaese, R. M., Carey, T.
RefAuthors L., Berkel, A. I.
RefTitle Variable immunodeficiency with abnormal condensation of
RefTitle the heterochromatin of chromosomes 1, 9, and 16.
RefLoc J Pediatr:757-760 (1988)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 60106
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 1921
Feature /codon: gct -> act; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 603
Feature /change: A -> T
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67657
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 22
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: insertion
Feature /loc: IDRefSeq: C0096: 2535
Feature /change: +tacccccag
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 807
Feature /change: +STP
Feature /domain: C5MTASE
Symptoms Classical dysmorphic features, pulmonary infections,
Symptoms diarrhoea, development delayed
Symptoms classical features of variable immunodeficiency,
Symptoms chromosomal instability of chromosomes 1, 9, and 16
Sex XX
Family history Inherited
IgG 1.19
IgA <0.05
IgM 0.11
B cells 21%
T cells CD3+ 69%
T cells CD4+ 45%
T cells CD8+ 34%
//
ID G663S(1), V726G(1); standard; MUTATION; C5MTASE, C5MTASE
Accession A0002
Original code Cu
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 07-May-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10647011
RefAuthors Xu, G-L., Bestor, T. H., Bourc'his, D., Hsieh, C-L., Tommerup,
RefAuthors N., Bugge, M., Hulten, M., Qu, X., Russo, J. J., Viegas-
RefAuthors Pequignot, E.
RefTitle Chromosome instability and immunodeficiency syndrome caused by
RefTitle mutations in a DNA methyltransferase gene
RefLoc Nature 402:187-191 (1999)
FeatureHeader allele; 1
Feature aa; 1
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 663
Feature /change: G -> S
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature aa; 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 726
Feature /change: V -> G
Feature /domain: C5MTASE
//
ID L664T(1), L664T(1); standard; MUTATION; C5MTASE, C5MTASE
Accession A0003
Original code B
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 07-May-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10647011
RefAuthors Xu, G. L., Bestor, T. H., Bourc'his, D., Hsieh, C. L.,
RefAuthors Tommerup, N., Bugge, M., Hulten, M., Qu, X., Russo, J. J.,
RefAuthors Viegas-Pequignot, E.
RefTitle Chromosome instability and immunodeficiency syndrome
RefTitle caused by mutations in a DNA methyltransferase gene.
RefLoc Nature:187-191 (1999)
FeatureHeader allele; 1
Feature aa; 1
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 664
Feature /change: L -> T
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature aa; 1
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 664
Feature /change: L -> T
Feature /domain: C5MTASE
//
ID V726G(2a), V726G(2a); standard; MUTATION; C5MTASE, C5MTASE
Accession A0007
Original code P1
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 21-Nov-2000 (Rel. 1, Created)
Date 07-May-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10588719
RefAuthors Hansen, R. S., Wijmenga, C., Luo, P., Stanek, A. M.,
RefAuthors Canfield, T. K., Weemaes, C. M., Gartler, S. M.
RefTitle The DNMT3B DNA methyltransferase gene is mutated in the
RefTitle ICF immunodeficiency syndrome.
RefLoc Proc Natl Acad Sci U S A:14412-14417 (1999)
RefNumber [2]
RefCrossRef PUBMED; 9718351
RefAuthors Wijmenga, C., van den Heuvel, L. P., Strengman, E.,
RefAuthors Luyten, J. A., van der Burgt, I. J., de Groot, R., Smeets,
RefAuthors D. F., Draaisma, J. M., van Dongen, J. J., De Abreu, R.
RefAuthors A., Pearson, P. L., Sandkuijl, L. A., Weemaes, C. M.
RefTitle Localization of the ICF syndrome to chromosome 20 by
RefTitle homozygosity mapping.
RefLoc Am J Hum Genet:803-809 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 62322
Feature /change: t -> g
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2291
Feature /codon: gtt -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 726
Feature /change: V -> G
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 62322
Feature /change: t -> g
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2291
Feature /codon: gtt -> ggt; 2
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 726
Feature /change: V -> G
Feature /domain: C5MTASE
Symptoms Classical dysmorfic features, diarrhoea, development
Symptoms delayed classical features of variable immunodeficiency,
Symptoms chromosomal instability of chromosomes 1, 9, and 16
Sex XY
Family history Inherited
Relative ICF; A0008 brother
IgG <0.45
IgA <0.02
IgM <0.05
B cells 16%
T cells CD3+ 81%
T cells CD4+ 55%
T cells CD8+ 8%
//
ID V726G(2b), V726G(2b); standard; MUTATION; C5MTASE, C5MTASE
Accession A0008
Original code P2
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 21-Nov-2000 (Rel. 1, Created)
Date 21-Nov-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10588719
RefAuthors Hansen, R. S., Wijmenga, C., Luo, P., Stanek, A. M.,
RefAuthors Canfield, T. K., Weemaes, C. M., Gartler, S. M.
RefTitle The DNMT3B DNA methyltransferase gene is mutated in the
RefTitle ICF immunodeficiency syndrome.
RefLoc Proc Natl Acad Sci U S A:14412-14417 (1999)
RefNumber [2]
RefCrossRef PUBMED; 9718351
RefAuthors Wijmenga, C., van den Heuvel, L. P., Strengman, E.,
RefAuthors Luyten, J. A., van der Burgt, I. J., de Groot, R., Smeets,
RefAuthors D. F., Draaisma, J. M., van Dongen, J. J., De Abreu, R.
RefAuthors A., Pearson, P. L., Sandkuijl, L. A., Weemaes, C. M.
RefTitle Localization of the ICF syndrome to chromosome 20 by
RefTitle homozygosity mapping.
RefLoc Am J Hum Genet:803-809 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 62322
Feature /change: t -> g
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2291
Feature /codon: gtt -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 726
Feature /change: V -> G
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 62322
Feature /change: t -> g
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2291
Feature /codon: gtt -> ggt; 2
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 726
Feature /change: V -> G
Feature /domain: C5MTASE
Symptoms Not typical dysmorfic features, development delayed
Symptoms classical features of variable immunodeficiency,
Symptoms chromosomal instability of chromosomes 1, 9, and 16
Sex XY
Family history Inherited
Relative ICF; A0007 brother
IgG received IVIG
IgA <0.02
IgM <0.05
B cells 19%
T cells CD3+ 66%
T cells CD4+ 43%
T cells CD8+ 22%
//
ID A766P(1), A766P(1); standard; MUTATION; C5MTASE, C5MTASE
Accession A0013
Original code P13
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefAuthors Weemaes, C., Wijmenga, C., ICF study group
RefTitle The spectrum of DNMT3B mutations in ICF syndrome
RefLoc IXth meeting of the European society for immunodeficiencies
RefLoc Program and abstracts p. 77
RefNumber [2]
RefCrossRef PUBMED; 11102980
RefAuthors Wijmenga, C., Hansen, R. S., Gimelli, G., Bjorck, E. J.,
RefAuthors Davies, E. G., Valentine, D., Belohradsky, B. H., van
RefAuthors Dongen, J. J., Smeets, D. F., van den Heuvel, L. P.,
RefAuthors Luyten, J. A., Strengman, E., Weemaes, C., Pearson, P. L.
RefTitle Genetic variation in ICF syndrome: evidence for genetic
RefTitle heterogeneity.
RefLoc Hum Mutat:509-517 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 65308
Feature /change: g -> c
Feature /genomic_region: exon; 21
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2410
Feature /codon: gcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 766
Feature /change: A -> P
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 65308
Feature /change: g -> c
Feature /genomic_region: exon; 21
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2410
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 766
Feature /change: A -> P
Feature /domain: C5MTASE
Symptoms Pulmonary infections
Sex XY
IgG 0.6
IgA <0.10
IgM 1.4
B cells 9%
T cells CD3+ 68%
T cells CD4+ 44%
T cells CD8+ 26%
//
ID A766P(2),A766P(2); standard; MUTATION; C5MTase,C5MTase
Accession A0018
Systematic name Allele 1 and 2: g.65308G>C, c.2296G>C, r.2296g>c,
Systematic name p.Ala766Pro
Original code PE
Description Allele 1 and 2: A point mutation in the exon 21 leading to
Description an amino acid change in the C5MTase domain
Date 28-Feb-2007 (Rel. 1, Created)
Date 28-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15580563
RefAuthors Jiang, Y. L., Rigolet, M., Bourc'his, D., Nigon, F.,
RefAuthors Bokesoy, I., Fryns, J. P., Hulten, M., Jonveaux, P.,
RefAuthors Maraschio, P., Megarbane, A., Moncla, A., Viegas-
RefAuthors Pequignot, E.
RefTitle DNMT3B mutations and DNA methylation defect define two
RefTitle types of ICF syndrome.
RefLoc Hum Mutat:56-63 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 65308
Feature /change: g -> c
Feature /genomic_region: exon; 21
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2410
Feature /codon: gcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 766
Feature /change: A -> P
Feature /domain: C5MTase
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 65308
Feature /change: g -> c
Feature /genomic_region: exon; 21
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2410
Feature /codon: gcc -> ccc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 766
Feature /change: A -> P
Feature /domain: C5MTase
Diagnosis ICF syndrome
Sex XY
Parents Non-consanguineous
//
ID H814R(1), V818M(2); standard; MUTATION; C5MTASE, C5MTASE
Accession A0014
Original code P11
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
Date 27-Feb-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefAuthors Weemaes, C., Wijmenga, C., ICF study group
RefTitle The spectrum of DNMT3B mutations in ICF syndrome
RefLoc IXth meeting of the European society for immunodeficiencies
RefLoc Program and abstracts p. 77
RefNumber [2]
RefCrossRef PUBMED; 11102980
RefAuthors Wijmenga, C., Hansen, R. S., Gimelli, G., Bjorck, E. J.,
RefAuthors Davies, E. G., Valentine, D., Belohradsky, B. H., van
RefAuthors Dongen, J. J., Smeets, D. F., van den Heuvel, L. P.,
RefAuthors Luyten, J. A., Strengman, E., Weemaes, C., Pearson, P. L.
RefTitle Genetic variation in ICF syndrome: evidence for genetic
RefTitle heterogeneity.
RefLoc Hum Mutat:509-517 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67688
Feature /change: a -> g
Feature /genomic_region: exon; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2555
Feature /codon: cac -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 814
Feature /change: H -> R
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67699
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon: 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2566
Feature /codon: gtg -> atg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 818
Feature /change: V -> M
Feature /domain: C5MTASE
Symptoms Classical dysmorphic features, pulmonary infections,
Symptoms development delayed, died at the age of 12 of respiratory
Symptoms failure
Sex XY
Family history De novo
IgG 16.70
IgA 0.06
IgM 3.85
T cells CD3+ 80%
//
ID H814R(2),V818M(3); standard; MUTATION; C5MTase,C5MTase
Accession A0019
Systematic name Allele 1: g.67688A>G, c.2441A>G, r.2441a>g, p.His814Arg
Systematic name Allele 2: g.67699G>A, c.2452G>A, r.2452g>a, p.Val818Met
Original code PK
Description Allele 1: A point mutation in the exon 23 leading to an
Description amino acid change in the C5MTase domain
Description Allele 2: A point mutation in the exon 23 leading to an
Description amino acid change in the C5MTase domain
Date 28-Feb-2007 (Rel. 1, Created)
Date 28-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15580563
RefAuthors Jiang, Y. L., Rigolet, M., Bourc'his, D., Nigon, F.,
RefAuthors Bokesoy, I., Fryns, J. P., Hulten, M., Jonveaux, P.,
RefAuthors Maraschio, P., Megarbane, A., Moncla, A., Viegas-
RefAuthors Pequignot, E.
RefTitle DNMT3B mutations and DNA methylation defect define two
RefTitle types of ICF syndrome.
RefLoc Hum Mutat:56-63 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67688
Feature /change: a -> g
Feature /genomic_region: exon; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2555
Feature /codon: cac -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 814
Feature /change: H -> R
Feature /domain: C5MTase
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67699
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2566
Feature /codon: gtg -> atg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 818
Feature /change: V -> M
Feature /domain: C5MTase
Diagnosis ICF syndrome
Sex XY
Parents Non-consanguineous
//
ID D817G(1), D817G(1); standard; MUTATION; C5MTASE, C5MTASE
Accession A0004
Original code R
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 07-May-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10647011
RefAuthors Xu, G. L., Bestor, T. H., Bourc'his, D., Hsieh, C. L.,
RefAuthors Tommerup, N., Bugge, M., Hulten, M., Qu, X., Russo, J. J.,
RefAuthors Viegas-Pequignot, E.
RefTitle Chromosome instability and immunodeficiency syndrome
RefTitle caused by mutations in a DNA methyltransferase gene.
RefLoc Nature:187-191 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67697
Feature /change: a -> g
Feature /genomic_region: exon; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2564
Feature /codon: gac -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 817
Feature /change: D -> G
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67697
Feature /change: a -> g
Feature /genomic_region: exon; 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2564
Feature /codon: gac -> ggc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 817
Feature /change: D -> G
Feature /domain: C5MTASE
Family history Inherited
//
ID V818M(1), V818M(1); standard; MUTATION; C5MTASE, C5MTASE
Accession A0005
Original code M
Description Allele 1 and 2; missense mutation in the C5MTASE domain
Date 16-Nov-2000 (Rel. 1, Created)
Date 13-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10647011
RefAuthors Xu, G. L., Bestor, T. H., Bourc'his, D., Hsieh, C. L.,
RefAuthors Tommerup, N., Bugge, M., Hulten, M., Qu, X., Russo, J. J.,
RefAuthors Viegas-Pequignot, E.
RefTitle Chromosome instability and immunodeficiency syndrome
RefTitle caused by mutations in a DNA methyltransferase gene.
RefLoc Nature:187-191 (1999)
FeatureHeader allele; 1
Feature aa; 1
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 818
Feature /change: V -> M
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature aa; 2
Feature /name:
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 818
Feature /change: V -> M
Feature /domain: C5MTASE
//
ID V818M(4),V818M(4); standard; MUTATION; C5MTase,C5MTase
Accession A0020
Systematic name Allele 1 and 2: g.67699G>A, c.2452G>A, r.2452g>a,
Systematic name p.Val818Met
Original code PH
Description Allele 1 and 2: A point mutation in the exon 23 leading to
Description an amino acid change in the C5MTase domain
Date 28-Feb-2007 (Rel. 1, Created)
Date 28-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15580563
RefAuthors Jiang, Y. L., Rigolet, M., Bourc'his, D., Nigon, F.,
RefAuthors Bokesoy, I., Fryns, J. P., Hulten, M., Jonveaux, P.,
RefAuthors Maraschio, P., Megarbane, A., Moncla, A., Viegas-
RefAuthors Pequignot, E.
RefTitle DNMT3B mutations and DNA methylation defect define two
RefTitle types of ICF syndrome.
RefLoc Hum Mutat:56-63 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67699
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2566
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 818
Feature /change: V -> M
Feature /domain: C5MTase
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67699
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0096: 2566
Feature /codon: gtg -> atg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 818
Feature /change: V -> M
Feature /domain: C5MTase
Diagnosis ICF syndrome
Sex XY
Parents Non-consanguineous
//
ID Intron 22(1), Intron 22(1); standard; MUTATION; C5MTASE,
ID C5MTASE
Accession A0009
Original code P3
Description Allele 1 and 2; missense mutation in C5MTASE domain
Date 21-Nov-2000 (Rel. 1, Created)
Date 09-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10588719
RefAuthors Hansen, R. S., Wijmenga, C., Luo, P., Stanek, A. M.,
RefAuthors Canfield, T. K., Weemaes, C. M., Gartler, S. M.
RefTitle The DNMT3B DNA methyltransferase gene is mutated in the
RefTitle ICF immunodeficiency syndrome.
RefLoc Proc Natl Acad Sci U S A:14412-14417 (1999)
RefNumber [2]
RefCrossRef PUBMED; 9718351
RefAuthors Wijmenga, C., van den Heuvel, L. P., Strengman, E.,
RefAuthors Luyten, J. A., van der Burgt, I. J., de Groot, R., Smeets,
RefAuthors D. F., Draaisma, J. M., van Dongen, J. J., De Abreu, R.
RefAuthors A., Pearson, P. L., Sandkuijl, L. A., Weemaes, C. M.
RefTitle Localization of the ICF syndrome to chromosome 20 by
RefTitle homozygosity mapping.
RefLoc Am J Hum Genet:803-809 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67657
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 22
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: insertion
Feature /loc: IDRefSeq: C0096: 2535
Feature /change: +tacccccag
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 807
Feature /change: +STP
Feature /domain: C5MTASE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0096: 67657
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 22
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: insertion
Feature /loc: IDRefSeq: C0096: 2535
Feature /change: +tacccccag
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: Q9UBC3; DNM3B_HUMAN: 807
Feature /change: +STP
Feature /domain: C5MTASE
Symptoms Classical dysmorphic feature, pulmonary infections, diarrhoea
Symptoms development delayed, died at 3 years of respiratory failure
Symptoms classical features of variable immunodeficiency, chromosomal
Symptoms instability of chromosomes 1, 9, and 16
Sex XX
Family history Inherited
IgG <0.45
IgA <0.02
IgM <0.05
B cells 3%
T cells CD3+ 77%
T cells CD4+ 44%
T cells CD8+ 33%
//
|
