Database CD40base
Version 1.0
File cd40pub.html
Date 14-Jun-2007
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/CD40base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF18.html
Gene CD40
Disease CD40 deficiency
OMIM 109535
GDB 215268
Sequence IDRefSeq:D0015; IDRefSeq:D0015; UniProt:P25942
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments previously known as TNFRSF5base
Comments sequence entry reference in every entry
//
ID C83R(1a),C83R(1a); standard; MUTATION; EC,EC
Accession T0002
Systematic name Allele 1 and 2: g.58074T>C, c.294T>C, p.C83R
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 3 leading to an
Description amino acid change in the EC domain
Date 11-Jun-2002 (Rel. 1, Created)
Date 11-Jun-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11675497
RefAuthors Ferrari, S., Giliani, S., Insalaco, A., Al-Ghonaium, A.,
RefAuthors Soresina, A. R., Loubser, M., Avanzini, M. A., Marconi,
RefAuthors M., Badolato, R., Ugazio, A. G., Levy, Y., Catalan, N.,
RefAuthors Durandy, A., Tbakhi, A., Notarangelo, L. D., Plebani, A.
RefTitle Mutations of CD40 gene cause an autosomal recessive form
RefTitle of immunodeficiency with hyper igM.
RefLoc Proc Natl Acad Sci U S A 98:12614-12619 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 58074
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 294
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P25942; TNR5_HUMAN: 83
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 58074
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 294
Feature /codon: tgc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P25942; TNR5_HUMAN: 83
Feature /change: C -> R
Feature /domain: EC
Protein CD40 mutation
Protein Defects of CD40 expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid; Saudi Arabia
Relative Other affected family members: Yes
Relative CD40base; T0003 cousin
Parents Consanguineous
Symptoms Lower respitratory tract infections
Symptoms Neutropenia
Treatment IVIG: constant
//
ID C83R(1b),C83R(1b); standard; MUTATION; EC,EC
Accession T0003
Systematic name Allele 1 and 2: g.58074T>C, c.294T>C, p.C83R
Original code Patient 3
Description Allele 1 and 2: point mutation in the exon 3 leading to an
Description amino acid change in the EC domain
Date 11-Jun-2002 (Rel. 1, Created)
Date 11-Jun-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11675497
RefAuthors Ferrari, S., Giliani, S., Insalaco, A., Al-Ghonaium, A.,
RefAuthors Soresina, A. R., Loubser, M., Avanzini, M. A., Marconi,
RefAuthors M., Badolato, R., Ugazio, A. G., Levy, Y., Catalan, N.,
RefAuthors Durandy, A., Tbakhi, A., Notarangelo, L. D., Plebani, A.
RefTitle Mutations of CD40 gene cause an autosomal recessive form
RefTitle of immunodeficiency with hyper igM.
RefLoc Proc Natl Acad Sci U S A 98:12614-12619 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 58074
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 294
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P25942; TNR5_HUMAN: 83
Feature /change: C -> R
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 58074
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 294
Feature /codon: tgc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P25942; TNR5_HUMAN: 83
Feature /change: C -> R
Feature /domain: EC
Protein CD40 mutation
Protein Defects of CD40 expression and/or of CD40 binding
Sex XX
Ethnic origin Caucasoid; Saudi Arabia
Relative Other affected family members: Yes
Relative CD40base; T0002 cousin
Parents Consanguineous
Symptoms Lower respitratory tract infections
Symptoms Evidence for interstitial pneumonia
Treatment IVIG: constant
//
ID T136T(1),T136T(1); standard; MUTATION; EC,EC
Accession T0001
Systematic name Allele 1 and 2: g.58855A>T, c.455A>T, p.T136T
Original code Patient 1
Description Allele 1 and 2: point mutation in the exon 5 leading to an
Description amino acid change in the EC domain
Date 11-Jun-2002 (Rel. 1, Created)
Date 11-Jun-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11675497
RefAuthors Ferrari, S., Giliani, S., Insalaco, A., Al-Ghonaium, A.,
RefAuthors Soresina, A. R., Loubser, M., Avanzini, M. A., Marconi,
RefAuthors M., Badolato, R., Ugazio, A. G., Levy, Y., Catalan, N.,
RefAuthors Durandy, A., Tbakhi, A., Notarangelo, L. D., Plebani, A.
RefTitle Mutations of CD40 gene cause an autosomal recessive form
RefTitle of immunodeficiency with hyper igM.
RefLoc Proc Natl Acad Sci U S A 98:12614-12619 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 58855
Feature /change: a -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 455
Feature /codon: aca -> act; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P25942; TNR5_HUMAN: 136
Feature /change: T -> T
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 58855
Feature /change: a -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 455
Feature /codon: aca -> act; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P25942; TNR5_HUMAN: 136
Feature /change: T -> T
Feature /domain: EC
Protein CD40 mutation
Sex XX
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Symptoms Lower respitratory tract infections
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Intron 3(1),Intron 3(1); standard; MUTATION;
Accession T0004
Systematic name Allele 1 and 2: g.IVS3-2A>T, c.A>T, r.a>u,
Original code 12-month-old Turkish girl
Description Allele 1 and 2: a point mutation in the intron 3 leading to
Description an amino acid change
Date 15-Jan-2004 (Rel. 1, Created)
Date 15-Jan-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12584544
RefAuthors Kutukculer, N., Moratto, D., Aydinok, Y., Lougaris, V.,
RefAuthors Aksoylar, S., Plebani, A., Genel, F., Notarangelo, L. D.
RefTitle Disseminated cryptosporidium infection in an infant with
RefTitle hyper-igM syndrome caused by CD40 deficiency.
RefLoc J Pediatr 142:194-196 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 58333
Feature /change: a -> t
Feature /genomic_region: intron; 3
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: D0015: 58333
Feature /change: a -> t
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Protein CD40 mutation
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: necrotizing pneumonia caused by
Symptoms Pseudomonas aeruginosa, disseminated cryptosporidium
Symptoms infection, failure to thrive, hepatomegaly,
Symptoms laryngotracheobronchitis, pulmonary fibrosis, atelectasis
Symptoms and bronchiectasis
IgA <5.6 mg/dL
IgG <146 mg/dL
IgM 80 mg/dL
//
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