Database CD79Abase
Version 1.0
File cd79apub.txt
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/CD79Abase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF25.html
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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