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IDbases have been moved to Lund University and are available at

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They will remain for a while in this old address and will be removed in the future.

 

 

 

- databases for immunodeficiency-causing mutations

   CD79Abase
   Mutation registry for  Igα deficiency


Database        CD79Abase
Version         1.0
File            cd79apub.txt
Date            14-Jun-2007
Curator         Mauno Vihinen
Address         Institute of Medical Technology 
Address         FI-33014 University of Tampere, Finland
Phone           +358-3-3551 7735
Fax             +358-3-3551 7710
Email           Mauno.Vihinen@uta.fi
URL             http://bioinf.uta.fi/CD79Abase/
FTP             ftp://protein.uta.fi/pub/cd79apub.dat
IDR factfile    http://bioinf.uta.fi/xml/idr/ff/FF25.xml
Gene            CD79A
Disease         Ig-alpha deficiency
OMIM            112205
GDB             133778
Sequence        IDRefSeq:D0017; IDRefSeq:C0017; UniProt:P11912 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              Intron 2(1),Intron 2(1); standard; MUTATION;
Accession       C0001
Systematic name Allele 1 and 2: g.IVS2-2A>G, c.380-2A>G, r.380-2a>g,
Original code   2-year-old girl
Description     Allele 1 and 2: point mutation in the intron 2 leading to a
Description     deletion of exon 3
Date            10-Jan-2003 (Rel. 1, Created)
Date            10-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10525050
RefAuthors      Minegishi, Y., Coustan-Smith, E., Rapalus, L., Ersoy, F., 
RefAuthors      Campana, D., Conley, M. E.
RefTitle        Mutations in igalpha (CD79a) result in a complete block in 
RefTitle        B-cell development.
RefLoc          J Clin Invest 104:1115-1121 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: IDRefSeq: D0017: 2924
Feature           /change: a -> g
Feature           /genomic_region: intron; 2
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0017: 2924
Feature           /change: a -> g
Feature           /genomic_region: intron; 2
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0017: 413..531
Feature           /change: -agccgccccc caggcccttc ctggacatgg gggagggcac 
Feature           /change:  caagaaccga atcatcacag ccgaggggat catcctcctg 
Feature           /change:  ttctgcgcgg tggtgcctgg gacgctgctg ctgttcagg
Feature           /note: deletion of exon 3
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0017: 413..424
Feature           /change: -agccgccccc ca
Feature           /genomic_region: exon; 3
Feature           /inexloc: -2
Feature           /note: deletion of the first 13 bp of exon 3
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P11912; CD79A_HUMAN: 127..166
Feature           /change:    QPPPRPFLDM GEGTKNRIIT AEGIILLFCA VVPGTLLLFR 
Feature           /change:     
Feature           /change: -> QTMAEREARV GCRGX
Feature           /domain: EC
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P11912; CD79A_HUMAN: 127..131
Feature           /change: QPPPR -> R
Feature           /domain: EC
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 9
Feature           /name: point
Feature           /loc: IDRefSeq: D0017: 2924
Feature           /change: a -> g
Feature           /genomic_region: intron; 2
Feature         dna; 8
Feature           /rnalink: 10
Feature           /name: point
Feature           /loc: IDRefSeq: D0017: 2924
Feature           /change: a -> g
Feature           /genomic_region: intron; 2
Feature         rna; 9
Feature           /dnalink: 9
Feature           /aalink: 11
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0017: 413..531
Feature           /change: -agccgccccc caggcccttc ctggacatgg gggagggcac 
Feature           /change:  caagaaccga atcatcacag ccgaggggat catcctcctg 
Feature           /change:  ttctgcgcgg tggtgcctgg gacgctgctg ctgttcagg
Feature           /note: deletion of exon 3
Feature         rna; 10
Feature           /dnalink: 8
Feature           /aalink: 12
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0017: 413..424
Feature           /change: -agccgccccc ca
Feature           /genomic_region: exon; 3
Feature           /inexloc: -2
Feature           /note: deletion of the first 13 bp of exon 3
Feature         aa; 11
Feature           /rnalink: 9
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P11912; CD79A_HUMAN: 127..166
Feature           /change:    QPPPRPFLDM GEGTKNRIIT AEGIILLFCA VVPGTLLLFR 
Feature           /change:     
Feature           /change: -> QTMAEREARV GCRGX
Feature           /domain: EC
Feature         aa; 12
Feature           /rnalink: 10
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P11912; CD79A_HUMAN: 127..131
Feature           /change: QPPPR -> R
Feature           /domain: EC
Sex             XX
Symptoms        Gastro-intestinal tract manifestations
Symptoms           Protracted diarrhea
Symptoms        Hematological abnormalities
Symptoms           Neutropenia
Symptoms        Other clinical features: bronchitis
Treatment       IVIG: constant
IgA             13 mg/dL
IgG             10 mg/dL
IgM             5 mg/dL
//
ID              Intron 2(2),Intron 2(2); standard; MUTATION;
Accession       C0002
Systematic name Allele 1 and 2: g.IVS2+1G>A, c.379+1G>A, r.379+1g>a,
Description     Allele 1 and 2: a point mutation in the intron 2 leading to
Description     an amino acid change
Date            17-Jun-2005 (Rel. 1, Created)
Date            17-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11920841
RefAuthors      Wang, Y., Kanegane, H., Sanal, O., Tezcan, I., Ersoy, F., 
RefAuthors      Futatani, T., Miyawaki, T.
RefTitle        Novel igalpha (CD79a) gene mutation in a turkish patient 
RefTitle        with B cell-deficient agammaglobulinemia.
RefLoc          Am J Med Genet 108:333-336 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0017: 2685
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: intron; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0017: 2685
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: intron; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Sex             XY
Ethnic origin   Caucasoid; Turkey
Parents         Non-consanguineous
Status quo      Deceased; cause of death: pulmonary infection
Symptoms        Lower respiratory tract infections
Symptoms        Other clinical features: otitis media
Comment         -!-Two elder brothers died of infections in early infancy
//
//

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Last modified 25.03.2011