Database CFDbase
Version 1.0
File cfdpub.html
Date 14-Jun-2007
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/CFDbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF98.html
Gene CFD
Disease Factor D deficiency
OMIM 134350
GDB 132645
Sequence IDRefSeq:D0027; IDRefSeq:C0027; UniProt:P00746
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID S42X(1a),S42X(1a); standard; MUTATION;
Accession D0001
Systematic name Allele 1 and 2: g.317660C>A, c.125C>A, r.125c>a, p.Ser42X
Original code V:7
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description a premature stop codon
Date 09-Aug-2004 (Rel. 1, Created)
Date 09-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11457876
RefAuthors Biesma, D. H., Hannema, A. J., van Velzen-Blad, H.,
RefAuthors Mulder, L., van Zwieten, R., Kluijt, I., Roos, D.
RefTitle A family with complement factor D deficiency.
RefLoc J Clin Invest 108:233-240 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
Symptoms Meningococcemia caused by Neisseria meningitides
Age 23
Sex XX
Ethnic origin Caucasoid; Holland
Parents Consanguineous
Relative CFDbase; D0002 nonidentical twin sister
Relative CFDbase; D0003 mother
Relative CFDbase; D0004 uncle
Relative CFDbase; D0005
//
ID S42X(1b),S42X(1b); standard; MUTATION;
Accession D0002
Systematic name Allele 1 and 2: g.317660C>A, c.125C>A, r.125c>a, p.Ser42X
Original code V:8
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description a premature stop codon
Date 09-Aug-2004 (Rel. 1, Created)
Date 09-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11457876
RefAuthors Biesma, D. H., Hannema, A. J., van Velzen-Blad, H.,
RefAuthors Mulder, L., van Zwieten, R., Kluijt, I., Roos, D.
RefTitle A family with complement factor D deficiency.
RefLoc J Clin Invest 108:233-240 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
Symptoms complete factor D deficiency, but no history of infections
Sex XX
Ethnic origin Caucasoid; Holland
Parents Consanguineous
Relative CFDbase; D0001 nonidentical twin sister
Relative CFDbase; D0003 mother
Relative CFDbase; D0004 uncle
Relative CFDbase; D0005
//
ID S42X(1c),S42X(1c); standard; MUTATION;
Accession D0003
Systematic name Allele 1 and 2: g.317660C>A, c.125C>A, r.125c>a, p.Ser42X
Original code IV:8
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description a premature stop codon
Date 09-Aug-2004 (Rel. 1, Created)
Date 09-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11457876
RefAuthors Biesma, D. H., Hannema, A. J., van Velzen-Blad, H.,
RefAuthors Mulder, L., van Zwieten, R., Kluijt, I., Roos, D.
RefTitle A family with complement factor D deficiency.
RefLoc J Clin Invest 108:233-240 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
Symptoms complete factor D deficiency, but no history of infections
Sex XX
Ethnic origin Caucasoid; Holland
Parents Consanguineous
Relative CFDbase; D0001 daughter
Relative CFDbase; D0002 daughter
Relative CFDbase; D0004 brother
Relative CFDbase; D0005
//
ID S42X(1d),S42X(1d); standard; MUTATION;
Accession D0004
Systematic name Allele 1 and 2: g.317660C>A, c.125C>A, r.125c>a, p.Ser42X
Original code IV:11
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description a premature stop codon
Date 09-Aug-2004 (Rel. 1, Created)
Date 09-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11457876
RefAuthors Biesma, D. H., Hannema, A. J., van Velzen-Blad, H.,
RefAuthors Mulder, L., van Zwieten, R., Kluijt, I., Roos, D.
RefTitle A family with complement factor D deficiency.
RefLoc J Clin Invest 108:233-240 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
Symptoms complete factor D deficiency, but no history of infections
Sex XY
Ethnic origin Caucasoid; Holland
Parents Consanguineous
Relative CFDbase; D0001 niece
Relative CFDbase; D0002 niece
Relative CFDbase; D0003 sister
Relative CFDbase; D0005
//
ID S42X(1e),S42X(1e); standard; MUTATION;
Accession D0005
Systematic name Allele 1 and 2: g.317660C>A, c.125C>A, r.125c>a, p.Ser42X
Original code III:18
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description a premature stop codon
Date 09-Aug-2004 (Rel. 1, Created)
Date 09-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11457876
RefAuthors Biesma, D. H., Hannema, A. J., van Velzen-Blad, H.,
RefAuthors Mulder, L., van Zwieten, R., Kluijt, I., Roos, D.
RefTitle A family with complement factor D deficiency.
RefLoc J Clin Invest 108:233-240 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0027: 317660
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0027: 150
Feature /codon: tcg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00746; CFAD_HUMAN: 42
Feature /change: S -> X
Symptoms a fatal pneumonia and meningitis caused by Streptococcus
Symptoms pneumoniae
Sex XY
Ethnic origin Caucasoid; Holland
Parents Consanguineous
Relative CFDbase; D0001
Relative CFDbase; D0002
Relative CFDbase; D0003
Relative CFDbase; D0004
//
ID V213G/C214R(1),V213G/C214R(1); standard; MUTATION;
Accession D0006
Systematic name Allele 1 and 2: g.320088T>G; g.320090T>C, c.638T>G;
Systematic name c.640T>C, r.638u>g; r.640u>c, p.Val213Gly; p.Cys214Arg
Original code Patient B
Description Allele 1 and 2: point mutations in the exon 5 leading to
Description an amino acid changes
Date 21-Jun-2006 (Rel. 1, Created)
Date 21-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16527897
RefAuthors Sprong, T., Roos, D., Weemaes, C., Neeleman, C., Geesing,
RefAuthors C. L., Mollnes, T. E., van Deuren, M.
RefTitle Deficient alternative complement pathway activation due to
RefTitle factor D deficiency by 2 novel mutations in the complement
RefTitle factor D gene in a family with meningococcal infections.
RefLoc Blood 107:4865-4870 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0027: 320088
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0027: 320090
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0027: 663
Feature /codon: gtg -> ggg; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0027: 665
Feature /codon: tgc -> cgc; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: P00746; CFAD_HUMAN: 213
Feature /change: V -> G
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: P00746; CFAD_HUMAN: 214
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0027: 320088
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0027: 320090
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0027: 663
Feature /codon: gtg -> ggg; 2
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: missense
Feature /loc: IDRefSeq: C0027: 665
Feature /codon: tgc -> cgc; 1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: UniProt: P00746; CFAD_HUMAN: 213
Feature /change: V -> G
Feature aa; 12
Feature /rnalink: 10
Feature /name: aa substitution
Feature /loc: UniProt: P00746; CFAD_HUMAN: 214
Feature /change: C -> R
Age 13 mo
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Comment Patient's sister died at 9-month age because of severe
Comment meningococcal disease
//
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