Database PTPRCbase
Version 1.1
File ptprcpub.txt
Date 16-Jun-2011
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/PTPRCbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF6.html
Gene PTPRC
Disease CD45 deficiency
OMIM 151460
GDB 119768
Sequence IDRefSeq:D0068; IDRefSeq:C0068; UniProt:P08575
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID H51Q(1),=; standard; MUTATION; EC
Accession P0003
Systematic name Allele 1: g.58675C>A, c.153C>A, r.153c>a, p.His51Gln
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12073144
RefAuthors Jacobsen, M., Hoffmann, S., Cepok, S., Stei, S., Ziegler,
RefAuthors A., Sommer, N., Hemmer, B.
RefTitle A novel mutation in PTPRC interferes with splicing and
RefTitle alters the structure of the human CD45 molecule.
RefLoc Immunogenetics:158-163 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58675
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 245
Feature /codon: cac -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 51
Feature /change: H -> Q
Feature /domain: EC
Sex XX
Comment Diagnosed with multiple sclerosis (MS)
//
ID P57P(1),?; standard; MUTATION; EC
Accession P0004
Systematic name Allele 1: g.58693C>G, c.171C>G, r.171c>g, p.Pro57Pro
Original code Patient R.
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14630980
RefAuthors Boxall, S., McCormick, J., Beverley, P., Strobel, S., De
RefAuthors Filippi, P., Dawes, R., Klersy, C., Clementi, R., De Juli,
RefAuthors E., Ferster, A., Wallace, D., Aricx, M., Danesino, C.,
RefAuthors Tchilian, E.
RefTitle Abnormal cell surface antigen expression in individuals
RefTitle with variant CD45 splicing and histiocytosis.
RefLoc Pediatr Res:478-484 (2004)
RefNumber [2]
RefCrossRef PUBMED; 7901594
RefAuthors Bujan, W., Schandene, L., Ferster, A., De Valck, C.,
RefAuthors Goldman, M., Sariban, E.
RefTitle Abnormal T-cell phenotype in familial erythrophagocytic
RefTitle lymphohistiocytosis.
RefLoc Lancet:1296 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58693
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 263
Feature /codon: ccc -> ccg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 57
Feature /change: P -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Infections:
Symptoms Fever;
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Hypertriglyceridaemia;
Symptoms Other: neutropenia, thrombocytopenia, hypofibrinogenemia
Age 2 mo
Sex XY
Ethnic origin Caucasoid; Belgium
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment Diagnosed with hemophagocytic lymphohistiocytosis (HLH)
//
ID P57P(2),?; standard; MUTATION; EC
Accession P0005
Systematic name Allele 1: g.58693C>G, c.171C>G, r.171c>g, p.Pro57Pro
Original code Patient W.
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14630980
RefAuthors Boxall, S., McCormick, J., Beverley, P., Strobel, S., De
RefAuthors Filippi, P., Dawes, R., Klersy, C., Clementi, R., De Juli,
RefAuthors E., Ferster, A., Wallace, D., Aricx, M., Danesino, C.,
RefAuthors Tchilian, E.
RefTitle Abnormal cell surface antigen expression in individuals
RefTitle with variant CD45 splicing and histiocytosis.
RefLoc Pediatr Res:478-484 (2004)
RefNumber [2]
RefCrossRef PUBMED; 7851014
RefAuthors Wagner, R., Morgan, G., Strobel, S.
RefTitle A prospective study of CD45 isoform expression in
RefTitle haemophagocytic lymphohistiocytosis; an abnormal inherited
RefTitle immunophenotype in one family.
RefLoc Clin Exp Immunol:216-220 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58693
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 263
Feature /codon: ccc -> ccg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 57
Feature /change: P -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Infections:
Symptoms Fever;
Symptoms Other: diarrhea
Symptoms Physical findings:
Symptoms Lymphadenopathy; Hepatosplenomegaly; Hypertriglyceridaemia;
Symptoms Pancytopenia; Coagulation disorder
Symptoms Other: pallor, increasing irritability, hemophagocytosis
Age 3 mo
Sex XY
Ethnic origin Caucasoid; Britain
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Donor: matched sibling
Treatment Outcome: alive and well
Comment Diagnosed with hemophagocytic lymphohistiocytosis (HLH)
//
ID P57P(3),?; standard; MUTATION; EC
Accession P0006
Systematic name Allele 1: g.58693C>G, c.171C>G, r.171c>g, p.Pro57Pro
Original code Case 1, Patient S.F.
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14630980
RefAuthors Boxall, S., McCormick, J., Beverley, P., Strobel, S., De
RefAuthors Filippi, P., Dawes, R., Klersy, C., Clementi, R., De Juli,
RefAuthors E., Ferster, A., Wallace, D., Aricx, M., Danesino, C.,
RefAuthors Tchilian, E.
RefTitle Abnormal cell surface antigen expression in individuals
RefTitle with variant CD45 splicing and histiocytosis.
RefLoc Pediatr Res:478-484 (2004)
Reference
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58693
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 263
Feature /codon: ccc -> ccg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 57
Feature /change: P -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Physical findings:
Symptoms Other: cranial swelling, isolated osteolytic region,
Symptoms CD1a-positive LCH
Age 3.5 y
Sex XY
Ethnic origin Italy
Treatment No bone marrow transplantation
Comment Diagnosed with Langerhans cell histiocytosis (LCH); one
Comment year later the lesion healed, remains asymptomatic
//
ID P57P(4),P57P(4); standard; MUTATION; EC,EC
Accession P0007
Systematic name Allele 1: g.58693C>G, c.171C>G, r.171c>g, p.Pro57Pro
Systematic name Allele 2: g.58693C>G, c.171C>G, r.171c>g, p.Pro57Pro
Original code Case 2, Patient B.S.
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Description Allele 2: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14630980
RefAuthors Boxall, S., McCormick, J., Beverley, P., Strobel, S., De
RefAuthors Filippi, P., Dawes, R., Klersy, C., Clementi, R., De Juli,
RefAuthors E., Ferster, A., Wallace, D., Aricx, M., Danesino, C.,
RefAuthors Tchilian, E.
RefTitle Abnormal cell surface antigen expression in individuals
RefTitle with variant CD45 splicing and histiocytosis.
RefLoc Pediatr Res:478-484 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58693
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 263
Feature /codon: ccc -> ccg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 57
Feature /change: P -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58693
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 263
Feature /codon: ccc -> ccg; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 57
Feature /change: P -> P
Feature /domain: EC
Symptoms Physical findings:
Symptoms Other: osteolytic region, CD1a-positive LCH
Age 5.4 y
Sex XX
Ethnic origin Italy
Treatment No bone marrow transplantation
Comment Diagnosed with Langerhans cell histiocytosis (LCH); one
Comment year later the lesion healed, remains asymptomatic
//
ID P57P(6),?; standard; MUTATION; EC
Accession P0008
Systematic name Allele 1: g.58693C>G, c.171C>G, r.171c>g, p.Pro57Pro
Original code Case 3, Patient M.F.
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14630980
RefAuthors Boxall, S., McCormick, J., Beverley, P., Strobel, S., De
RefAuthors Filippi, P., Dawes, R., Klersy, C., Clementi, R., De Juli,
RefAuthors E., Ferster, A., Wallace, D., Aricx, M., Danesino, C.,
RefAuthors Tchilian, E.
RefTitle Abnormal cell surface antigen expression in individuals
RefTitle with variant CD45 splicing and histiocytosis.
RefLoc Pediatr Res:478-484 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58693
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 263
Feature /codon: ccc -> ccg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 57
Feature /change: P -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Physical findings:
Symptoms Other: polyuria, polydipsia, diabetes insidipus,
Symptoms osteolytic lesions, moderate liver dysfunction,
Symptoms multisystem LCH with multifocal bone lesions and
Symptoms endocrine defects
Age 17 y
Sex XY
Ethnic origin Italy
Treatment No bone marrow transplantation
Comment Diagnosed with Langerhans cell histiocytosis (LCH)
//
ID P57P(7),?; standard; MUTATION; EC
Accession P0009
Systematic name Allele 1: g.58693C>G, c.171C>G, r.171c>g, p.Pro57Pro
Original code Patient K.S.
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the EC domain
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17890848
RefAuthors Muralitharan, S., Pathare, A., Wali, Y., Dennison, D.,
RefAuthors Krishnamoorthy, R.
RefTitle CD45 gene C77G mutation in haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Acta Haematol:160-161 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 58693
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0068; GI:18641346; PTPRCC: 263
Feature /codon: ccc -> ccg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08575; CD45_HUMAN: 57
Feature /change: P -> P
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Infections:
Symptoms Fever;
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Pancytopenia; Coagulation disorder
Symptoms Other: abnormal prothrombin time, activated partial
Symptoms thromboplastin time, low fibrinogen,
Symptoms hyperferritinaemia, hypercholesterolaemia
Age 0
Sex XY
Ethnic origin Oman
Parents Consanguineous
Treatment No bone marrow transplantation
Comment Diagnosed with haemophagocytic lymphohistiocytosis
//
ID #H361-2(1),#H361-2(1); standard; MUTATION; EC,EC
Accession P0002
Systematic name Allele 1 and 2: g.71646_71651delATGAGT,
Systematic name c.1082_1087delATGAGT, r.1082_1087delaugagu, p.His361del
Description Allele 1 and 2: an inframe deletion in the exon 11 leading
Description to an amino acid change in the EC domain
Date 06-Nov-2003 (Rel. 1, Created)
Date 06-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11145714
RefAuthors Tchilian, E. Z., Wallace, D. L., Wells, R. S., Flower, D.
RefAuthors R., Morgan, G., Beverley, P. C.
RefTitle A deletion in the gene encoding the CD45 antigen in a
RefTitle patient with SCID.
RefLoc J Immunol 166:1308-1313 (2001)
RefNumber [2]
RefCrossRef PUBMED; 9068311
RefAuthors Cale, C. M., Klein, N. J., Novelli, V., Veys, P., Jones,
RefAuthors A. M., Morgan, G.
RefTitle Severe combined immunodeficiency with abnormalities in
RefTitle expression of the common leucocyte antigen, CD45.
RefLoc Arch Dis Child 76:163-164 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0068: 71646..71651
Feature /change: -atgagt
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0068: 1174..1179
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P08575; CD45_HUMAN: 361..363
Feature /change: HEY -> H
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0068: 71646..71651
Feature /change: -atgagt
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0068: 1174..1179
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P08575; CD45_HUMAN: 361..363
Feature /change: HEY -> H
Feature /domain: EC
Symptoms Infections:
Symptoms Other: rash, pyrexia, pneumonitis, disseminated CMV
Symptoms Physical findings:
Symptoms Lymphadenopathy; Hepatosplenomegaly; Pancytopenia;
Sex XX
Ethnic origin Turkey
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Donor: MUD
Treatment Outcome
Treatment BMT-related problems: death, 55 days after BMT
//
ID Intron 13(1),Deletion(1); standard; MUTATION;
Accession P0001
Systematic name Allele 1: g.IVS13+1G>A, c.1444+1G>A, r.1444+1g>a,
Description Allele 1: a point mutation in the intron 13 leading to an
Description aberrant splicing
Description Allele 2: large undefined deletion mapped to the
Description 3' end of the gene
Date 06-Nov-2003 (Rel. 1, Created)
Date 06-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10700239
RefAuthors Kung, C., Pingel, J. T., Heikinheimo, M., Klemola, T.,
RefAuthors Varkila, K., Yoo, L. I., Vuopala, K., Poyhonen, M., Uhari,
RefAuthors M., Rogers, M., Speck, S. H., Chatila, T., Thomas, M. L.
RefTitle Mutations in the tyrosine phosphatase CD45 gene in a child
RefTitle with severe combined immunodeficiency disease.
RefLoc Nat Med 6:343-345 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0068: 78746
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0068: 1537
Feature /change: +ataagttata tgttttaatg cttctttcca taaatggtaa
Feature /change: aaagcaag
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P08575; CD45_HUMAN: 482
Feature /change: P -> HKLYVLMLLS INGKKQA
Feature /domain: FNIII-2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: Deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Other: B-cell lymphoma at 2 years of age
Age 2/12
Sex XY
IgA <0.008
IgG 1.75
IgM 0.26
Comment Immunoglobulin replacement therapy was begun at 4 months
Comment of age
//
//
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