Database CFPbase
Version 1.0
File cfppub.txt
Date 19-Oct-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/CFPbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF100.html
Gene CFP
Disease Properdin deficiency
OMIM 312060
GDB 120275
Sequence IDRefSeq:D0066; IDRefSeq:C0066; UniProt:P27918
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R79X(1a); standard; MUTATION; TSP1
Accession P0003
Systematic name g.3781C>T, c.477C>T, p.R79X
Original code Case 1; male III:5; R52X
Description Point mutation in the exon 4 leading to a premature stop
Description codon in the TSP1 domain
Date 24-Feb-2003 (Rel. 3, Created)
Date 24-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10540191
RefAuthors Spath, P. J., Sjoholm, A. G., Fredrikson, G. N., Misiano,
RefAuthors G., Scherz, R., Schaad, U. B., Uhring-Lambert, B.,
RefAuthors Hauptmann, G., Westberg, J., Uhlen, M., Wadelius, C.,
RefAuthors Truedsson, L.
RefTitle Properdin deficiency in a large swiss family:
RefTitle identification of a stop codon in the properdin gene, and
RefTitle association of meningococcal disease with lack of the igG2
RefTitle allotype marker G2m(n).
RefLoc Clin Exp Immunol 118:278-284 (1999)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 3781
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 477
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 79
Feature /change: R -> X
Feature /domain: TSP1
Sex XY
Ethnic origin Caucasoid; Switzerland
Relative CFPbase; P0004 cousin
Relative CFPbase; P0005 cousin
Relative CFPbase; P0006 uncle
Relative Other affected family members: Yes; phenotype: same
Diagnosis Date: 1983
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
Symptoms Meningococcal disease: N. meningitidis, serogroup B
//
ID R79X(1b); standard; MUTATION; TSP1
Accession P0004
Systematic name g.3781C>T, c.477C>T, p.R79X
Original code Case 2; male III:1; R52X
Description Point mutation in the exon 4 leading to a premature stop
Description codon in the TSP1 domain
Date 24-Feb-2003 (Rel. 3, Created)
Date 24-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10540191
RefAuthors Spath, P. J., Sjoholm, A. G., Fredrikson, G. N., Misiano,
RefAuthors G., Scherz, R., Schaad, U. B., Uhring-Lambert, B.,
RefAuthors Hauptmann, G., Westberg, J., Uhlen, M., Wadelius, C.,
RefAuthors Truedsson, L.
RefTitle Properdin deficiency in a large swiss family:
RefTitle identification of a stop codon in the properdin gene, and
RefTitle association of meningococcal disease with lack of the igG2
RefTitle allotype marker G2m(n).
RefLoc Clin Exp Immunol 118:278-284 (1999)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 3781
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 477
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 79
Feature /change: R -> X
Feature /domain: TSP1
Sex XY
Ethnic origin Caucasoid; Switzerland
Relative CFPbase; P0003 cousin
Relative CFPbase; P0005 brother
Relative CFPbase; P0006 uncle
Relative Other affected family members: Yes; phenotype: same
Diagnosis Date: 1985
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
Symptoms Meningococcal disease: N. meningitidis, serogroup B
//
ID R79X(1c); standard; MUTATION; TSP1
Accession P0005
Systematic name g.3781C>T, c.477C>T, p.R79X
Original code male III:3; R52X
Description Point mutation in the exon 4 leading to a premature stop
Description codon in the TSP1 domain
Date 24-Feb-2003 (Rel. 3, Created)
Date 24-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10540191
RefAuthors Spath, P. J., Sjoholm, A. G., Fredrikson, G. N., Misiano,
RefAuthors G., Scherz, R., Schaad, U. B., Uhring-Lambert, B.,
RefAuthors Hauptmann, G., Westberg, J., Uhlen, M., Wadelius, C.,
RefAuthors Truedsson, L.
RefTitle Properdin deficiency in a large swiss family:
RefTitle identification of a stop codon in the properdin gene, and
RefTitle association of meningococcal disease with lack of the igG2
RefTitle allotype marker G2m(n).
RefLoc Clin Exp Immunol 118:278-284 (1999)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 3781
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 477
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 79
Feature /change: R -> X
Feature /domain: TSP1
Sex XY
Ethnic origin Caucasoid; Switzerland
Relative CFPbase; P0003 cousin
Relative CFPbase; P0004 brother
Relative CFPbase; P0006 uncle
Relative Other affected family members: Yes; phenotype: same
Diagnosis Date:
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
Symptoms Other clinical features: Henoch-Schonlein purpura with
Symptoms findings of non-thrombocytopenic purpura, arthralgia and
Symptoms abdominal pain
//
ID R79X(1d); standard; MUTATION; TSP1
Accession P0006
Systematic name g.3781C>T, c.477C>T, p.R79X
Original code II:5; R52X
Description Point mutation in the exon 4 leading to a premature stop
Description codon in the TSP1 domain
Date 25-Feb-2003 (Rel. 3, Created)
Date 25-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10540191
RefAuthors Spath, P. J., Sjoholm, A. G., Fredrikson, G. N., Misiano,
RefAuthors G., Scherz, R., Schaad, U. B., Uhring-Lambert, B.,
RefAuthors Hauptmann, G., Westberg, J., Uhlen, M., Wadelius, C.,
RefAuthors Truedsson, L.
RefTitle Properdin deficiency in a large swiss family:
RefTitle identification of a stop codon in the properdin gene, and
RefTitle association of meningococcal disease with lack of the igG2
RefTitle allotype marker G2m(n).
RefLoc Clin Exp Immunol 118:278-284 (1999)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 3781
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 477
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 79
Feature /change: R -> X
Feature /domain: TSP1
Sex XY
Ethnic origin Caucasoid; Switzerland
Relative CFPbase; P0004 nephew
Relative CFPbase; P0005 nephew
Relative CFPbase; P0006 nephew
Relative Other affected family members: Yes; phenotype: same
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID R79X(2); standard; MUTATION; TSP1
Accession P0012
Systematic name g.3781C>T, c.477C>T, p.R79X
Original code Family F; III:1
Description Point mutation in the exon 4 leading to a premature stop
Description codon in the TSP1 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 3781
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 477
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 79
Feature /change: R -> X
Feature /domain: TSP1
Sex XY
Ethnic origin Caucasoid; The Netherlands
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID R100W(1a); standard; MUTATION; TSP1
Accession P0007
Systematic name g.3844C>T, c.540C>T, p.R100W
Original code II:1; Family no.6; R73W
Description Point mutation in the exon 4 leading to an amino acid
Description change in the TSP1 domain
Date 28-Feb-2003 (Rel. 3, Created)
Date 28-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8530058
RefAuthors Westberg, J., Fredrikson, G. N., Truedsson, L., Sjoholm,
RefAuthors A. G., Uhlen, M.
RefTitle Sequence-based analysis of properdin deficiency:
RefTitle identification of point mutations in two phenotypic forms
RefTitle of an X-linked immunodeficiency.
RefLoc Genomics 29:1-8 (1995)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
RefNumber [4]
RefCrossRef PUBMED; 3141111
RefAuthors Sjoholm, A. G., Soderstrom, C., Nilsson, L. A.
RefTitle A second variant of properdin deficiency: the detection of
RefTitle properdin at low concentrations in affected males.
RefLoc Complement 5:130-140 (1988)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 3844
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 540
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 100
Feature /change: R -> W
Feature /domain: TSP1
Sex XY
Ethnic origin Caucasoid; Sweden
Relative CFPbase; P0008 nephew
Symptoms Properdin deficiency type:
Symptoms Type II; incomplete deficiency
//
ID R100W(1b); standard; MUTATION; TSP1
Accession P0008
Systematic name g.3844C>T, c.540C>T, p.R100W
Original code III:2; Family no.6; R73W
Description Point mutation in the exon 4 leading to an amino acid
Description change in the TSP1 domain
Date 28-Feb-2003 (Rel. 3, Created)
Date 28-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8530058
RefAuthors Westberg, J., Fredrikson, G. N., Truedsson, L., Sjoholm,
RefAuthors A. G., Uhlen, M.
RefTitle Sequence-based analysis of properdin deficiency:
RefTitle identification of point mutations in two phenotypic forms
RefTitle of an X-linked immunodeficiency.
RefLoc Genomics 29:1-8 (1995)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
RefNumber [4]
RefCrossRef PUBMED; 3141111
RefAuthors Sjoholm, A. G., Soderstrom, C., Nilsson, L. A.
RefTitle A second variant of properdin deficiency: the detection of
RefTitle properdin at low concentrations in affected males.
RefLoc Complement 5:130-140 (1988)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 3844
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 540
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 100
Feature /change: R -> W
Feature /domain: TSP1
Sex XY
Ethnic origin Caucasoid; Sweden
Relative CFPbase; P0007 uncle
Symptoms Properdin deficiency type:
Symptoms Type II; incomplete deficiency
//
ID R161X(1a); standard; MUTATION; TSP2
Accession P0001
Systematic name g.4487C>T, c.723C>T, p.R161X
Original code II:15; Family 1; R134X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TSP2 domain
Date 18-Feb-2003 (Rel. 3, Created)
Date 18-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8530058
RefAuthors Westberg, J., Fredrikson, G. N., Truedsson, L., Sjoholm,
RefAuthors A. G., Uhlen, M.
RefTitle Sequence-based analysis of properdin deficiency:
RefTitle identification of point mutations in two phenotypic forms
RefTitle of an X-linked immunodeficiency.
RefLoc Genomics 29:1-8 (1995)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 4487
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 723
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 161
Feature /change: R -> X
Feature /domain: TSP2
Sex XY
Ethnic origin Caucasoid; Sweden
Relative CFPbase; P0002 nephew
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
Symptoms Meningococcal disease: Neisseria meningitidis
//
ID R161X(1b); standard; MUTATION; TSP2
Accession P0002
Systematic name g.4487C>T, c.723C>T, p.R161X
Original code III:6; Family 1; R134X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TSP2 domain
Date 28-Feb-2003 (Rel. 3, Created)
Date 28-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8530058
RefAuthors Westberg, J., Fredrikson, G. N., Truedsson, L., Sjoholm,
RefAuthors A. G., Uhlen, M.
RefTitle Sequence-based analysis of properdin deficiency:
RefTitle identification of point mutations in two phenotypic forms
RefTitle of an X-linked immunodeficiency.
RefLoc Genomics 29:1-8 (1995)
RefNumber [2]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
RefNumber [4]
RefCrossRef PUBMED; 7151327
RefAuthors Sjoholm, A. G., Braconier, J. H., Soderstrom, C.
RefTitle Properdin deficiency in a family with fulminant
RefTitle meningococcal infections.
RefLoc Clin Exp Immunol 50:291-297 (1982)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 4487
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 723
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 161
Feature /change: R -> X
Feature /domain: TSP2
Sex XY
Ethnic origin Caucasoid; Sweden
Relative CFPbase; P0001 uncle
Relative Other affected family members: Yes; phenotype: same
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
Symptoms Meningococcal disease: N. meningitidis
//
ID Q187X(1); standard; MUTATION; TSP2
Accession P0036
Systematic name g.4565C>T, c.801C>T, p.Q187X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TSP2 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 4565
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 801
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 187
Feature /change: Q -> X
Feature /domain: TSP2
Ethnic origin Israel (Moroccan)
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID S206X(1a); standard; MUTATION; TSP3
Accession P0013
Systematic name g.4761C>G, c.859C>G, p.S206X
Original code Family L; II:1; S179X
Description Point mutation in the exon 6 leading to a premature stop
Description codon in the TSP3 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 4761
Feature /change: c -> g
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 859
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 206
Feature /change: S -> X
Feature /domain: TSP3
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0014 grandson
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID S206X(1b); standard; MUTATION; TSP3
Accession P0014
Systematic name g.4761C>G, c.859C>G, p.S206X
Original code Family L; IV:2; S179X
Description Point mutation in the exon 6 leading to a premature stop
Description codon in the TSP3 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 4761
Feature /change: c -> g
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0066: 859
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 206
Feature /change: S -> X
Feature /domain: TSP3
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0013 grandfather
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID #C224X227(1); standard; MUTATION; TSP3
Accession P0010
Systematic name g.4814_4815delTG, c.912_913delTG, p.C224fsX227
Original code Family no.2
Description Deletion in the exon 6 leading to a premature stop codon
Description in the TSP3 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
RefNumber [3]
RefCrossRef PUBMED; 2502833
RefAuthors Soderstrom, C., Sjoholm, A. G., Svensson, R., Ostenson, S.
RefTitle Another swedish family with complete properdin deficiency:
RefTitle association with fulminant meningococcal disease in one
RefTitle male family member.
RefLoc Scand J Infect Dis 21:259-265 (1989)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0066: 4814..4815
Feature /change: -tg
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0066: 912..913
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 224
Feature /change: C -> FCTX
Feature /domain: TSP3
Sex XY
Ethnic origin Caucasoid; Sweden
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
Symptoms Meningococcal disease: N. meningitidis
//
ID #G261X353(1a); standard; MUTATION; TSP4
Accession P0015
Systematic name g.5121_5128delGCCTTGGG, c.1025_1032delGCCTTGGG,
Systematic name p.G261fsX353
Original code Family A; II:1
Description Deletion in the exon 7 leading to a premature stop codon
Description in the TSP4 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0066: 5121..5128
Feature /change: -gccttggg
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank:NM_002621; GI:4505736; :1025..1032
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 261..264
Feature /change: GPWG
Feature /change: -> GPCEPLPCDL WPGPDHGTTD VQSPCAPAWG PLLCWRCHPD
Feature /change: PHLQHSCALP CGWGVGLVGG VEPLYPTEHE VHQLSRNPGP
Feature /change: AVTREDLQGP QVX
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0016 brother
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID #G261X353(1b); standard; MUTATION; TSP4
Accession P0016
Systematic name g.5121_5128delGCCTTGGG, c.1025_1032delGCCTTGGG,
Systematic name p.G261fsX353
Original code Family A; II:2
Description Deletion in the exon 7 leading to a premature stop codon
Description in the TSP4 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0066: 5121..5128
Feature /change: -gccttggg
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank:NM_002621; GI:4505736; :1025..1032
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 261..264
Feature /change: GPWG
Feature /change: -> GPCEPLPCDL WPGPDHGTTD VQSPCAPAWG PLLCWRCHPD
Feature /change: PHLQHSCALP CGWGVGLVGG VEPLYPTEHE VHQLSRNPGP
Feature /change: AVTREDLQGP QVX
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0015 brother
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID #G261X353(2); standard; MUTATION; TSP4
Accession P0017
Systematic name g.5121_5128delGCCTTGGG, c.1025_1032delGCCTTGGG,
Systematic name p.G261fsX353
Original code Family H; III:1
Description Deletion in the exon 7 leading to a premature stop codon
Description in the TSP4 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0066: 5121..5128
Feature /change: -gccttggg
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank:NM_002621; GI:4505736; :1025..1032
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 261..264
Feature /change: GPWG
Feature /change: -> GPCEPLPCDL WPGPDHGTTD VQSPCAPAWG PLLCWRCHPD
Feature /change: PHLQHSCALP CGWGVGLVGG VEPLYPTEHE VHQLSRNPGP
Feature /change: AVTREDLQGP QVX
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID #G261X353(3a); standard; MUTATION; TSP4
Accession P0018
Systematic name g.5121_5128delGCCTTGGG, c.1025_1032delGCCTTGGG,
Systematic name p.G261fsX353
Original code Family G; III:1
Description Deletion in the exon 7 leading to a premature stop codon
Description in the TSP4 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0066: 5121..5128
Feature /change: -gccttggg
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank:NM_002621; GI:4505736; :1025..1032
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 261..264
Feature /change: GPWG
Feature /change: -> GPCEPLPCDL WPGPDHGTTD VQSPCAPAWG PLLCWRCHPD
Feature /change: PHLQHSCALP CGWGVGLVGG VEPLYPTEHE VHQLSRNPGP
Feature /change: AVTREDLQGP QVX
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0019 brother
Relative CFPbase; P0020 brother
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID #G261X353(3b); standard; MUTATION; TSP4
Accession P0019
Systematic name g.5121_5128delGCCTTGGG, c.1025_1032delGCCTTGGG,
Systematic name p.G261fsX353
Original code Family G; III:3
Description Deletion in the exon 7 leading to a premature stop codon
Description in the TSP4 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0066: 5121..5128
Feature /change: -gccttggg
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank:NM_002621; GI:4505736; :1025..1032
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 261..264
Feature /change: GPWG
Feature /change: -> GPCEPLPCDL WPGPDHGTTD VQSPCAPAWG PLLCWRCHPD
Feature /change: PHLQHSCALP CGWGVGLVGG VEPLYPTEHE VHQLSRNPGP
Feature /change: AVTREDLQGP QVX
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0018 brother
Relative CFPbase; P0020 brother
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID #G261X353(3c); standard; MUTATION; TSP4
Accession P0020
Systematic name g.5121_5128delGCCTTGGG, c.1025_1032delGCCTTGGG,
Systematic name p.G261fsX353
Original code Family G; III:4
Description Deletion in the exon 7 leading to a premature stop codon
Description in the TSP4 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0066: 5121..5128
Feature /change: -gccttggg
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank:NM_002621; GI:4505736; :1025..1032
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P27918; PROP_HUMAN: 261..264
Feature /change: GPWG
Feature /change: -> GPCEPLPCDL WPGPDHGTTD VQSPCAPAWG PLLCWRCHPD
Feature /change: PHLQHSCALP CGWGVGLVGG VEPLYPTEHE VHQLSRNPGP
Feature /change: AVTREDLQGP QVX
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0018 brother
Relative CFPbase; P0019 brother
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID G298V(1a); standard; MUTATION; TSP4
Accession P0026
Systematic name g.5231G>T, c.1135G>T, p.G298V
Original code Family K; IV:1; G271V
Description Point mutation in the exon 7 leading to an amino acid
Description change in the TSP4 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5231
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1135
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 298
Feature /change: G -> V
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0027 second cousin
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID G298V(1b); standard; MUTATION; TSP4
Accession P0027
Systematic name g.5231G>T, c.1135G>T, p.G298V
Original code Family K; IV:4; G271V
Description Point mutation in the exon 7 leading to an amino acid
Description change in the TSP4 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5231
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1135
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 298
Feature /change: G -> V
Feature /domain: TSP4
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0026 second cousin
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321G(1); standard; MUTATION; TSP5
Accession P0009
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family no.3
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 28-Feb-2003 (Rel. 3, Created)
Date 28-Feb-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin South America
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
Symptoms Meningococcal disease: N. meningitidis
//
ID W321G(2); standard; MUTATION; TSP5
Accession P0028
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family D; III:1; W294G
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321G(3); standard; MUTATION; TSP5
Accession P0029
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family E; III:1; W294G
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321G(4a); standard; MUTATION; TSP5
Accession P0030
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family B; II:1; W294G
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0031 brother
Relative CFPbase; P0032 brother
Relative CFPbase; P0033 nephew
Relative CFPbase; P0034 nephew
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321G(4b); standard; MUTATION; TSP5
Accession P0031
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family B; II:2; W294G
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0030 brother
Relative CFPbase; P0032 brother
Relative CFPbase; P0033 nephew
Relative CFPbase; P0034 nephew
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321G(4c); standard; MUTATION; TSP5
Accession P0032
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family B; II:8; W294G
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0030 brother
Relative CFPbase; P0031 brother
Relative CFPbase; P0033 nephew
Relative CFPbase; P0034 nephew
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321G(4d); standard; MUTATION; TSP5
Accession P0033
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family B; III:3; W294G
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0030 uncle
Relative CFPbase; P0031 uncle
Relative CFPbase; P0032 uncle
Relative CFPbase; P0034 cousin
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321G(4e); standard; MUTATION; TSP5
Accession P0034
Systematic name g.5552T>G, c.1203T>G, p.W321G
Original code Family B; III:5; W294G
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5552
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1203
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> G
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0030 uncle
Relative CFPbase; P0031 uncle
Relative CFPbase; P0032 uncle
Relative CFPbase; P0033 cousin
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321S(1a); standard; MUTATION; TSP5
Accession P0021
Systematic name g.5553G>C, c.1204G>C, p.W321S
Original code Family C; I:1; W294S
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5553
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1204
Feature /codon: tgg -> tcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> S
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0022 grandson
Relative CFPbase; P0023 grandson
Relative CFPbase; P0024 grandson
Relative CFPbase; P0025 grandson
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321S(1b); standard; MUTATION; TSP5
Accession P0022
Systematic name g.5553G>C, c.1204G>C, p.W321S
Original code Family C; III:1; W294S
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5553
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1204
Feature /codon: tgg -> tcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> S
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0021 grandfather
Relative CFPbase; P0023 brother
Relative CFPbase; P0024 brother
Relative CFPbase; P0025 brother
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321S(1c); standard; MUTATION; TSP5
Accession P0023
Systematic name g.5553G>C, c.1204G>C, p.W321S
Original code Family C; III:2; W294S
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5553
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1204
Feature /codon: tgg -> tcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> S
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0021 grandfather
Relative CFPbase; P0022 brother
Relative CFPbase; P0024 brother
Relative CFPbase; P0025 brother
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321S(1d); standard; MUTATION; TSP5
Accession P0024
Systematic name g.5553G>C, c.1204G>C, p.W321S
Original code Family C; III:3; W294S
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5553
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1204
Feature /codon: tgg -> tcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> S
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0021 grandfather
Relative CFPbase; P0022 brother
Relative CFPbase; P0023 brother
Relative CFPbase; P0025 brother
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID W321S(1e); standard; MUTATION; TSP5
Accession P0025
Systematic name g.5553G>C, c.1204G>C, p.W321S
Original code Family C; III:4; W294S
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10909851
RefAuthors van den Bogaard, R., Fijen, C. A., Schipper, M. G., de
RefAuthors Galan, L., Kuijper, E. J., Mannens, M. M.
RefTitle Molecular characterisation of 10 dutch properdin type I
RefTitle deficient families: mutation analysis and X-inactivation
RefTitle studies.
RefLoc Eur J Hum Genet 8:513-518 (2000)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5553
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1204
Feature /codon: tgg -> tcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 321
Feature /change: W -> S
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; The Netherlands
Relative CFPbase; P0021 grandfather
Relative CFPbase; P0022 brother
Relative CFPbase; P0023 brother
Relative CFPbase; P0024 brother
Relative Other affected family members: Yes
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
ID Q343R(1); standard; MUTATION; TSP5
Accession P0011
Systematic name g.5619A>G, c.1270A>G, p.Q343R
Original code Family no.5; Q316R
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 03-Mar-2003 (Rel. 3, Created)
Date 03-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476131
RefAuthors Truedsson, L., Westberg, J., Fredrikson, G. N., Sjoholm,
RefAuthors A. G., Kuijper, E. J., Fijen, C. A., Spath, P. J., Uhlen,
RefAuthors M.
RefTitle Human properdin deficiency has a heterogeneous genetic
RefTitle background.
RefLoc Immunopharmacology 38:203-206 (1997)
RefNumber [2]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
RefNumber [3]
RefCrossRef PUBMED; 3608246
RefAuthors Nielsen, H. E., Koch, C.
RefTitle Congenital properdin deficiency and meningococcal
RefTitle infection.
RefLoc Clin Immunol Immunopathol 44:134-139 (1987)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5619
Feature /change: a -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1270
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 343
Feature /change: Q -> R
Feature /domain: TSP5
Sex XY
Ethnic origin Caucasoid; Denmark
Symptoms Properdin deficiency type:
Symptoms Type II; incomplete deficiency
Symptoms Meningococcal disease: N. meningitidis
//
ID R346C(1); standard; MUTATION; TSP5
Accession P0035
Systematic name g.5627C>T, c.1278C>T, p.R346C
Description Point mutation in the exon 8 leading to an amino acid
Description change in the TSP5 domain
Date 04-Mar-2003 (Rel. 3, Created)
Date 04-Mar-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10698340
RefAuthors Fijen, C. A., van den Bogaard, R., Schipper, M., Mannens,
RefAuthors M., Schlesinger, M., Nordin, F. G., Dankert, J., Daha, M.
RefAuthors R., Sjoholm, A. G., Truedsson, L., Kuijper, E. J.
RefTitle Properdin deficiency: molecular basis and disease
RefTitle association.
RefLoc Mol Immunol 36:863-867 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0066: 5627
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0066: 1278
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27918; PROP_HUMAN: 346
Feature /change: R -> C
Feature /domain: TSP5
Ethnic origin Israel (Tunesian)
Symptoms Properdin deficiency type:
Symptoms Type I; complete deficiency
//
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