Database SP110base
Version 1.0
File sp110pub.html
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/SP110base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF158.html
Gene SP110
Disease Hepatic veno-occlusive disease with immunodeficiency
Disease syndrome (VODI)
OMIM 604457
Sequence IDRefSeq:D0116; IDRefSeq:C0116; GenBank:NP_536349
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #Q14X38(1),#Q14X38(1); standard; MUTATION; HSR,HSR
Accession S0006
Systematic name Allele 1 and 2: g.4051delC, c.40delC, r.40delc,
Systematic name p.Gln14fsX25
Original code E I.1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the HSR domain
Date 23-Aug-2006 (Rel. 1, Created)
Date 23-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16648851
RefAuthors Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G.,
RefAuthors Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald,
RefAuthors J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald,
RefAuthors G. B., Wong, M., Lindeman, R., Buckley, M. F.
RefTitle Mutations in the gene encoding the PML nuclear body
RefTitle protein sp110 are associated with immunodeficiency and
RefTitle hepatic veno-occlusive disease.
RefLoc Nat Genet:620-622 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 4051
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 141
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 14
Feature /change: Q -> STSCTRSWGS PMPYTSHFPS LKASX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 4051
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 141
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 14
Feature /change: Q -> STSCTRSWGS PMPYTSHFPS LKASX
Feature /domain: HSR
Symptoms Immunodeficiency & thrombocytopenia
Sex XY
Comment Patient is deceased; enteroviral and pneumocystis jerovici
Comment infection. The mutation was confirmed in DNA extracted from
Comment archival tissue from the patient.
//
ID #P214X228(1),#P214X228(1); standard; MUTATION;
Accession S0001
Systematic name Allele 1 and 2: g.8567delC, c.642delC, r.642delc,
Systematic name p.Ser215fsX14
Original code A II.1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 23-Aug-2006 (Rel. 1, Created)
Date 23-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16648851
RefAuthors Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G.,
RefAuthors Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald,
RefAuthors J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald,
RefAuthors G. B., Wong, M., Lindeman, R., Buckley, M. F.
RefTitle Mutations in the gene encoding the PML nuclear body
RefTitle protein sp110 are associated with immunodeficiency and
RefTitle hepatic veno-occlusive disease.
RefLoc Nat Genet:620-622 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
Symptoms Immunodeficiency, thrombocytopenia and hVOD
Sex XX
Comment Patient is deceased; recurrent hVOD post hematopoietic
Comment stem cell transplantation
//
ID #P214X228(2),#P214X228(2); standard; MUTATION;
Accession S0002
Systematic name Allele 1 and 2: g.8567delC, c.642delC, r.642delc,
Systematic name p.Ser215fsX14
Original code B II.1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 23-Aug-2006 (Rel. 1, Created)
Date 23-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16648851
RefAuthors Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G.,
RefAuthors Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald,
RefAuthors J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald,
RefAuthors G. B., Wong, M., Lindeman, R., Buckley, M. F.
RefTitle Mutations in the gene encoding the PML nuclear body
RefTitle protein sp110 are associated with immunodeficiency and
RefTitle hepatic veno-occlusive disease.
RefLoc Nat Genet:620-622 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
Sex XX
//
ID #P214X228(3a),#P214X228(3a); standard; MUTATION;
Accession S0003
Systematic name Allele 1 and 2: g.8567delC, c.642delC, r.642delc,
Systematic name p.Ser215fsX14
Original code C II.1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 23-Aug-2006 (Rel. 1, Created)
Date 23-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16648851
RefAuthors Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G.,
RefAuthors Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald,
RefAuthors J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald,
RefAuthors G. B., Wong, M., Lindeman, R., Buckley, M. F.
RefTitle Mutations in the gene encoding the PML nuclear body
RefTitle protein sp110 are associated with immunodeficiency and
RefTitle hepatic veno-occlusive disease.
RefLoc Nat Genet:620-622 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
Sex XY
Relative SP110base; S0004 sister
//
ID #P214X228(3b),#P214X228(3b); standard; MUTATION;
Accession S0004
Systematic name Allele 1 and 2: g.8567delC, c.642delC, r.642delc,
Systematic name p.Ser215fsX14
Original code C II.2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 23-Aug-2006 (Rel. 1, Created)
Date 23-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16648851
RefAuthors Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G.,
RefAuthors Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald,
RefAuthors J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald,
RefAuthors G. B., Wong, M., Lindeman, R., Buckley, M. F.
RefTitle Mutations in the gene encoding the PML nuclear body
RefTitle protein sp110 are associated with immunodeficiency and
RefTitle hepatic veno-occlusive disease.
RefLoc Nat Genet:620-622 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
Sex XX
Relative SP110base; S0003 brother
//
ID #P214X228(4),#P214X228(4); standard; MUTATION;
Accession S0005
Systematic name Allele 1 and 2: g.8567delC, c.642delC, r.642delc,
Systematic name p.Ser215fsX14
Original code D II.1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 23-Aug-2006 (Rel. 1, Created)
Date 23-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16648851
RefAuthors Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G.,
RefAuthors Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald,
RefAuthors J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald,
RefAuthors G. B., Wong, M., Lindeman, R., Buckley, M. F.
RefTitle Mutations in the gene encoding the PML nuclear body
RefTitle protein sp110 are associated with immunodeficiency and
RefTitle hepatic veno-occlusive disease.
RefLoc Nat Genet:620-622 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0116: 8567
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0116: 743
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_536349: 214
Feature /change: P -> PASSLALCKW PVTTX
Symptoms hVOD
Sex XY
Comment Patient is deceased; hemophagocytic syndrome post hepatic
Comment transplant for hVOD
//
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