Database CD247base
Version 1.0
File cd247pub.html
Date 20-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/CD247base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF149.html
Gene CD247
Disease Autosomal recessive CD3Zeta deficiency
OMIM 186780
Sequence IDRefSeq:D0115; IDRefSeq:C0115; UniProt:P20963
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Q70X(1),Q70X(1); standard; MUTATION; ITAM1,ITAM1
Accession C0001
Systematic name Allele 1 and 2: g.80235C>T, c.208C>T, r.208c>u, , p.Gln70X
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the ITAM1 domain
Date 15-Aug-2006 (Rel. 1, Created)
Date 15-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16672702
RefAuthors Rieux-Laucat, F., Hivroz, C., Lim, A., Mateo, V., Pellier,
RefAuthors I., Selz, F., Fischer, A., Le Deist, F.
RefTitle Inherited and somatic CD3zeta mutations in a patient with
RefTitle T-cell deficiency.
RefLoc N Engl J Med:1913-1921 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0115: 80235
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0115: 332
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P20963; CD3Z_HUMAN: 70
Feature /change: Q -> X
Feature /domain: ITAM1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0115: 80235
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0115: 332
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P20963; CD3Z_HUMAN: 70
Feature /change: Q -> X
Feature /domain: ITAM1
Symptoms Erythroderma, protracted diarrhea, and pulmonary abscesses
Symptoms caused by Pseudomonas aeruginosa, recurrent episodes of
Symptoms herpes simplex virus infection of the mouth and skin, two
Symptoms episodes of oral and skin infections with Candida albicans,
Symptoms and two pulmonary infections, one of which was caused by
Symptoms Streptococcus pneumoniae.
Sex XY
Ethnic origin Caribbean
Comment A haploidentical bone marrow transplantation, with the
Comment mother as the donor, was performed when the patient was 30
Comment months old. The transplant resulted in sustained
Comment donor-recipient chimerism and correction of the
Comment immunodeficiency. Three years later, the patient is well
Comment and living at home.
//
ID @D139X273(1),@D139X273(1); standard; MUTATION; ITAM3,ITAM3
Accession C0002
Systematic name Allele 1 and 2: g.86554_86555insC, c.414_415insC,
Systematic name r.414_415insc, p.Asp139fsX134
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 7 leading to a premature stop codon in the ITAM3
Description domain
Date 25-Apr-2007 (Rel. 1, Created)
Date 25-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [2]
RefCrossRef PUBMED; 17170122
RefAuthors Roberts, J. L., Lauritsen, J. P., Cooney, M., Parrott, R.
RefAuthors E., Sajaroff, E. O., Win, C. M., Keller, M. D., Carpenter,
RefAuthors J. H., Carabana, J., Krangel, M. S., Sarzotti, M., Zhong,
RefAuthors X. P., Wiest, D. L., Buckley, R. H.
RefTitle T-B+NK+ severe combined immunodeficiency caused by
RefTitle complete deficiency of the CD3{zeta} subunit of the T-cell
RefTitle antigen receptor complex.
RefLoc Blood:3198-3206 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0115: 86555
Feature /change: +c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0115: 539
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; elongation
Feature /loc: UniProt: P20963; CD3Z_HUMAN: 139
Feature /change: D ->
Feature /change: RWPLPGSQYS HQGHLRRPSH AGPAPSLTAR GFHHSKARPA
Feature /change: DAQIMRHRMK HLQPGSLFSA TEVFPFMYRM LWLYLAPNLH
Feature /change: TQTVVPALFK GVYSQGLRPW PWALWFAGGA GRPVSWRFLV
Feature /change: LPGRRAHCLS QLSCX
Feature /domain: ITAM3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0115: 86555
Feature /change: +c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0115: 539
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; elongation
Feature /loc: UniProt: P20963; CD3Z_HUMAN: 139
Feature /change: D ->
Feature /change: RWPLPGSQYS HQGHLRRPSH AGPAPSLTAR GFHHSKARPA
Feature /change: DAQIMRHRMK HLQPGSLFSA TEVFPFMYRM LWLYLAPNLH
Feature /change: TQTVVPALFK GVYSQGLRPW PWALWFAGGA GRPVSWRFLV
Feature /change: LPGRRAHCLS QLSCX
Feature /domain: ITAM3
Symptoms pneumonia, chronic cough, recurrent otitis media, failure
Symptoms to thrive, a chronic mild rash, one episode of Salmonella
Symptoms gastroenteritis, thrombocytopenia, CMV infection
Sex XX
Ethnic origin Guam
//
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