Database CD79Bbase
Version 1.0
File cd79bpub.html
Date 08-Apr-2013
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/CD79Bbase/
Gene CD79B
Disease Ig-beta deficiency
OMIM 147245
Sequence IDRefSeq:D0126; IDRefSeq:C0126; UniProt:P40259
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
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ID G138S(1),G138S(1); standard; MUTATION; Ig-V,Ig-V
Accession C0001
Systematic name Allele 1 and 2: g.2550G>A, c.412G>A, r.412g>a, p.Gly138Ser
Original code 15-year-old girl
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the Ig-V domain
Date 13-Aug-2007 (Rel. 1, Created)
Date 13-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17675462
RefAuthors Dobbs, A. K., Yang, T., Farmer, D., Kager, L., Parolini,
RefAuthors O., Conley, M. E.
RefTitle Cutting edge: A hypomorphic mutation in igbeta (CD79b) in
RefTitle a patient with immunodeficiency and a leaky defect in B
RefTitle cell development.
RefLoc J Immunol:2055-2059 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0126: 2550
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0126: 495
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P40259; CD79B_HUMAN: 138
Feature /change: G -> S
Feature /domain: Ig-V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0126: 2550
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0126: 495
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P40259; CD79B_HUMAN: 138
Feature /change: G -> S
Feature /domain: Ig-V
Symptoms At 5 mo of age she developed recurrent bronchitis, at 15 mo
Symptoms of age she was evaluated because of persistent cough and
Symptoms pneumonia and was found to have panhypogammaglobulinemia,
Symptoms markedly reduced but not absent B cells
Age 15
Sex XX
Ethnic origin Georgian descent, living in Austria
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