Database C7base
Version 1.2
File c7pub.html
Date 21-Aug-2008
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/C7base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF93.html
Gene C7
Disease C7 Deficiency
OMIM 217070
GDB 119046
Sequence IDRefSeq:D0109; IDRefSeq:C0109; GenBank:NP_000578
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID C63W(1),C63W(1); standard; MUTATION; TSP TYPE-1 1,TSP TYPE-1 1
Accession C0031
Systematic name Allele 1 and 2: g.22584T>G, c.189T>G, r.189u>g, p.Cys63Trp
Original code PV
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TSP TYPE-1 1 domain
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 22584
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 189
Feature /codon: tgt -> tgg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 63
Feature /change: C -> W
Feature /domain: TSP TYPE-1 1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 22584
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 189
Feature /codon: tgt -> tgg; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 63
Feature /change: C -> W
Feature /domain: TSP TYPE-1 1
Symptoms Bacterial infections
Symptoms Meningitis
Sex XY
Ethnic origin Caucasoid
Relative
Parents
//
ID #T211X215(1),#S642X652(2); standard; MUTATION; ,SUSHI 2
Accession C0026
Systematic name Allele 1: g.29148_29158delACGTCGACAGA,
Systematic name c.631_641delACGTCGACAGA, r.631_641delacgucgacaga,
Systematic name p.Ser212fsX4
Systematic name Allele 2: g.56309_56310delAG, c.1924_1925delAG,
Systematic name r.1924_1925delag, p.His643fsX10
Original code Patient 2
Description Allele 1: a frame shift deletion mutation in the exon 6
Description leading to a premature stop codon
Description Allele 2: a frame shift deletion in the exon 14 leading to
Description a premature stop codon in the SUSHI 2 domain
Date 28-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16771861
RefAuthors Barroso, S., Rieubland, C., Jose alvarez, A., Lopez-
RefAuthors Trascasa, M., Bart, P. A., Nunez-Roldan, A., Sanchez, B.
RefTitle Molecular defects of the C7 gene in two patients with
RefTitle complement C7 deficiency.
RefLoc Immunology 118:257-260 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 29148..29158
Feature /change: -acgtcgacag a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 631..641
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 211..214
Feature /change: TSTE -> THIIX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 56309..56310
Feature /change: -ag
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 1924..1925
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 642
Feature /change: S -> SPPKTFLHSW X
Feature /domain: SUSHI 2
Sex XX
Ethnic origin Caucasoid; Spain
//
ID W205X(1a),G379R(4a); standard; MUTATION;
Accession C0015
Systematic name Allele 1: g.29132G>A, c.615G>A, r.615g>a, p.Trp205X
Systematic name Allele 2: g.41450G>C, c.1135G>C, r.1135g>c, p.Gly379Arg
Original code 15-year-old boy
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the exon 9 leading to an
Description amino acid change
Date 27-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12869030
RefAuthors Vazquez-Bermudez, M. F., Barroso, S., Walter, K., Alvarez,
RefAuthors A. J., Alarcon, A., Lopez-Trascasa, M., Wichmann, I.,
RefAuthors Aguilar, F., Nunez-Roldan, A., Sanchez, B.
RefTitle Complement component C7 deficiency in a spanish family.
RefLoc Clin Exp Immunol 133:240-246 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 29132
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109: 615
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 205
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Symptoms Other clinical features: meningococcal disease episodes
Sex XY
Ethnic origin Caucasoid; Spain
Relative C7base; C0016 sister
Relative Other affected family members: Yes; phenotype:milder
//
ID W205X(1b),G379R(4b); standard; MUTATION;
Accession C0016
Systematic name Allele 1: g.29132G>A, c.615G>A, r.615g>a, p.Trp205X
Systematic name Allele 2: g.41450G>C, c.1135G>C, r.1135g>c, p.Gly379Arg
Description Allele 1: a point mutation in the exon 6 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the exon 9 leading to an
Description amino acid change
Date 27-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12869030
RefAuthors Vazquez-Bermudez, M. F., Barroso, S., Walter, K., Alvarez,
RefAuthors A. J., Alarcon, A., Lopez-Trascasa, M., Wichmann, I.,
RefAuthors Aguilar, F., Nunez-Roldan, A., Sanchez, B.
RefTitle Complement component C7 deficiency in a spanish family.
RefLoc Clin Exp Immunol 133:240-246 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 29132
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109: 615
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 205
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Sex XX
Ethnic origin Caucasoid; Spain
Relative C7base; C0015 brother
Relative Other affected family members: Yes; phenotype:worse
//
ID R220Q(1),R220Q(1); standard; MUTATION;
Accession C0012
Systematic name Allele 1 and 2: g.29176G>A, c.659G>A, r.659g>a, p.Arg220Gln
Original code Subject 5
Description Allele 1 and 2: point mutation in the exon 6 leading to an
Description amino acid change
Date 10-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9856499
RefAuthors Fernie, B. A., Hobart, M. J.
RefTitle Complement C7 deficiency: seven further molecular defects
RefTitle and their associated marker haplotypes.
RefLoc Hum Genet 103:513-519 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 29176
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 659
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 220
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 29176
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 659
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 220
Feature /change: R -> Q
Haplotype Allele 1:
Haplotype A/B genotype:?; MspI:-; TaqI(beta):L; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:M; 12.-27A/C:?;
Haplotype S367T DdeI:-;
Haplotype Allele 2:
Haplotype A/B genotype:?; MspI:-; TaqI(beta):L; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:N; 12.-27A/C:?;
Haplotype S367T DdeI:-;
Sex XX
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID G379R(1a),G379R(1a); standard; MUTATION;
Accession C0006
Systematic name Allele 1 and 2: g.41450G>A, c.1135G>A, r.1135g>a,
Systematic name p.Gly379Arg
Original code II-1
Description Allele 1 and 2: point mutation in the exon 9 leading to an
Description amino acid change
Date 09-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9218625
RefAuthors Fernie, B. A., Orren, A., Sheehan, G., Schlesinger, M.,
RefAuthors Hobart, M. J.
RefTitle Molecular bases of C7 deficiency: three different defects.
RefLoc J Immunol 159:1019-1026 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:?; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Haplotype Allele 2:
Haplotype A/B genotype:B; MspI:?; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is from an Israeli
Relative family and has two brothers and one sister. One
Relative brother is also C7 deficient (II-2) whereas the
Relative other brother and sister are heterozygous for C7
Relative deficiency
Relative C7base; C0007 brother
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID G379R(1b),G379R(1b); standard; MUTATION;
Accession C0007
Systematic name Allele 1 and 2: g.41450G>A, c.1135G>A, r.1135g>a,
Systematic name p.Gly379Arg
Original code II-2
Description Allele 1 and 2: point mutation in the exon 9 leading to an
Description amino acid change
Date 09-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9218625
RefAuthors Fernie, B. A., Orren, A., Sheehan, G., Schlesinger, M.,
RefAuthors Hobart, M. J.
RefTitle Molecular bases of C7 deficiency: three different defects.
RefLoc J Immunol 159:1019-1026 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is from an Israeli
Relative family and has two brothers and one sister. One
Relative brother is also C7 deficient (II-1) whereas the
Relative other brother and sister are heterozygous for C7
Relative deficiency
Relative C7base; C0006 brother
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID G379R(2a),G379R(2a); standard; MUTATION;
Accession C0008
Systematic name Allele 1 and 2: g.41450G>A, c.1135G>A, r.1135g>a,
Systematic name p.Gly379Arg
Original code II-1
Description Allele 1 and 2: point mutation in the exon 9 leading to an
Description amino acid change
Date 09-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9218625
RefAuthors Fernie, B. A., Orren, A., Sheehan, G., Schlesinger, M.,
RefAuthors Hobart, M. J.
RefTitle Molecular bases of C7 deficiency: three different defects.
RefLoc J Immunol 159:1019-1026 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:?; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:?; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is from an Israeli
Relative family and has one brother and one sister. His sister
Relative is also C7 deficient (II-3) whereas his brother (II-2)
Relative is heterozygous for C7 deficiency
Relative C7base; C0009 sister
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID G379R(2b),G379R(2b); standard; MUTATION;
Accession C0009
Systematic name Allele 1 and 2: g.41450G>A, c.1135G>A, r.1135g>a,
Systematic name p.Gly379Arg
Original code II-3
Description Allele 1 and 2: point mutation in the exon 9 leading to an
Description amino acid change
Date 09-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9218625
RefAuthors Fernie, B. A., Orren, A., Sheehan, G., Schlesinger, M.,
RefAuthors Hobart, M. J.
RefTitle Molecular bases of C7 deficiency: three different defects.
RefLoc J Immunol 159:1019-1026 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:?; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:?; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):?; T576S:A; M/N genotype:N; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Sex XX
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is from an Israeli
Relative family and has two brothers. Her other brother is
Relative also C7 deficient (II-1) whereas the other one is
Relative heterozygous for C7 deficiency
Relative C7base; C0008 brother
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID G379R(3a),G379R(3a); standard; MUTATION;
Accession C0013
Systematic name Allele 1 and 2: g.41450G>A, c.1135G>A, r.1135g>a,
Systematic name p.Gly379Arg
Systematic name p.Gly379Arg
Original code Patient 7
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description an amino acid change
Date 26-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12116267
RefAuthors Behar, D., Schlesinger, M., Halle, D., Ben-Ami, H.,
RefAuthors Edoute, Y., Shahar, E., Kasis, I., Shihab, S., Elstein,
RefAuthors D., Zimran, A., Mandel, H.
RefTitle C7 complement deficiency in an israeli arab village.
RefLoc Am J Med Genet 110:25-29 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Sex XY
Ethnic origin Caucasoid; Israel
Relative C7base; C0014 brother
Parents Consanguineous
//
ID G379R(3b),G379R(3b); standard; MUTATION;
Accession C0014
Systematic name Allele 1 and 2: g.41450G>A, c.1135G>A, r.1135g>a,
Systematic name p.Gly379Arg
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description an amino acid change
Date 26-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12116267
RefAuthors Behar, D., Schlesinger, M., Halle, D., Ben-Ami, H.,
RefAuthors Edoute, Y., Shahar, E., Kasis, I., Shihab, S., Elstein,
RefAuthors D., Zimran, A., Mandel, H.
RefTitle C7 complement deficiency in an israeli arab village.
RefLoc Am J Med Genet 110:25-29 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Sex XY
Ethnic origin Caucasoid; Israel
Relative C7base; C0013 brother
Parents Consanguineous
//
ID G379R(5),#K438X441(1); standard; MUTATION;
Accession C0017
Systematic name Allele 1: g.41450G>A, c.1135G>A, r.1135g>a, p.Gly379Arg
Systematic name Allele 2: g.47001delA, c.1314delA, r.1314dela, p.Lys438fsX4
Original code Patient 1
Description Allele 1: a point mutation in the exon 9 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 10 leading to
Description a premature stop codon
Date 27-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15554930
RefAuthors Barroso, S., Sanchez, B., Alvarez, A. J., Lopez-Trascasa,
RefAuthors M., Lanuza, A., Luque, R., Wichmann, I., Nunez-Roldan, A.
RefTitle Complement component C7 deficiency in two spanish
RefTitle families.
RefLoc Immunology 113:518-523 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 47001
Feature /change: -a
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 1314
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 438
Feature /change: K -> NYTX
Symptoms Other clinical features: two meningococcal disease episodes
Sex XX
Ethnic origin Caucasoid; Gypsy, Spain
//
ID G379R(6),R521S(2); standard; MUTATION; TSP TYPE-1 2,
Accession C0027
Systematic name Allele 1: g.41450G>C, c.1135G>C, r.1135g>c, p.Gly379Arg
Systematic name Allele 2: g.49727C>A, c.1561C>A, r.1561c>a, p.Arg521Ser
Original code I
Description Allele 1: A point mutation in the exon 9 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 11 leading to an
Description amino acid change
Date 21-Apr-2008 (Rel. 2, Created)
Date 21-Apr-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49727
Feature /change: c -> a
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1561
Feature /codon: cgt -> agt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 521
Feature /change: R -> S
Feature /domain: TSP TYPE-1 2
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Caucasoid
Relative
Parents
//
ID G379R(7),#S642X652(3); standard; MUTATION; ,SUSHI 2
Accession C0030
Systematic name Allele 1: g.41450G>C, c.1135G>C, r.1135g>c, p.Gly379Arg
Systematic name Allele 2: g.56309_56310delAG, c.1924_1925delAG,
Systematic name r.1924_1925delag, p.His643fsX10
Original code PIV
Description Allele 1: A point mutation in the exon 9 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 14
Description leading to a premature stop codon in the SUSHI 2 domain
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 56309..56310
Feature /change: -ag
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1924..1925
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 642
Feature /change: S -> SPPKTFLHSW X
Feature /domain: SUSHI 2
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Caucasoid
Relative
Parents
//
ID G379R(8),G379R(8); standard; MUTATION;
Accession C0032
Systematic name Allele 1 and 2: g.41450G>C, c.1135G>C, r.1135g>c,
Systematic name p.Gly379Arg
Original code PVI
Description Allele 1 and 2: A point mutation in the exon 9 leading to
Description an amino acid change
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Caucasoid
Relative
Parents
//
ID G379R(9),G379R(9); standard; MUTATION;
Accession C0033
Systematic name Allele 1 and 2: g.41450G>C, c.1135G>C, r.1135g>c,
Systematic name p.Gly379Arg
Original code PVII
Description Allele 1 and 2: A point mutation in the exon 9 leading to
Description an amino acid change
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 41450
Feature /change: g -> c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1135
Feature /codon: ggg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 379
Feature /change: G -> R
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Caucasoid
Relative
Parents
//
ID C475Y(1a),C475Y(1a); standard; MUTATION; EGF-LIKE,EGF-LIKE
Accession C0021
Systematic name Allele 1 and 2: g.49590G>A, c.1424G>A, r.1424g>a,
Systematic name p.Cys475Tyr
Original code Family 1; II:1
Description Allele 1 and 2: A point mutation in the exon 11 leading to
Description an amino acid change in the EGF-LIKE domain
Date 28-Jun-2006 (Rel. 1, Created)
Date 28-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16552475
RefAuthors Kang, H. J., Ki, C. S., Kim, Y. S., Hur, M., Jang, S. I.,
RefAuthors Min, K. S.
RefTitle Two mutations of the C7 gene, c.1424G > A and c.281-
RefTitle 1G > T, in two korean families.
RefLoc J Clin Immunol 26:186-191 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49590
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1424
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 475
Feature /change: C -> Y
Feature /domain: EGF-LIKE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49590
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1424
Feature /codon: tgc -> tac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 475
Feature /change: C -> Y
Feature /domain: EGF-LIKE
Symptoms Other clinical features: meningococcal meningitis,
Symptoms endopthalmitis and septic arthritis
Sex XX
Ethnic origin Mongoloid; Korea
Relative C7base; C0022 brother
//
ID C475Y(1b),C475Y(1b); standard; MUTATION; EGF-LIKE,EGF-LIKE
Accession C0022
Systematic name Allele 1 and 2: g.49590G>A, c.1424G>A, r.1424g>a,
Systematic name p.Cys475Tyr
Original code Family 1; II:2
Description Allele 1 and 2: A point mutation in the exon 11 leading to
Description an amino acid change in the EGF-LIKE domain
Date 28-Jun-2006 (Rel. 1, Created)
Date 28-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16552475
RefAuthors Kang, H. J., Ki, C. S., Kim, Y. S., Hur, M., Jang, S. I.,
RefAuthors Min, K. S.
RefTitle Two mutations of the C7 gene, c.1424G > A and c.281-
RefTitle 1G > T, in two korean families.
RefLoc J Clin Immunol 26:186-191 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49590
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1424
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 475
Feature /change: C -> Y
Feature /domain: EGF-LIKE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49590
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1424
Feature /codon: tgc -> tac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 475
Feature /change: C -> Y
Feature /domain: EGF-LIKE
Sex XY
Ethnic origin Mongoloid; Korea
Relative C7base; C0021 sister
//
ID C486X(1),R521S(1); standard; MUTATION; EGF-LIKE,TSP TYPE-1 2
Accession C0025
Systematic name Allele 1: g.49624T>A, c.1458T>A, r.1458u>a, p.Cys486X
Systematic name Allele 2: g.49727C>A, c.1561C>A, r.1561c>a, p.Arg521Ser
Original code Patient 1
Description Allele 1: A point mutation in the exon 11 leading to a
Description premature stop codon in the EGF-LIKE domain
Description Allele 2: A point mutation in the exon 11 leading to an
Description amino acid change in the TSP TYPE-1 2 domain
Date 28-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16771861
RefAuthors Barroso, S., Rieubland, C., Jose alvarez, A., Lopez-
RefAuthors Trascasa, M., Bart, P. A., Nunez-Roldan, A., Sanchez, B.
RefTitle Molecular defects of the C7 gene in two patients with
RefTitle complement C7 deficiency.
RefLoc Immunology 118:257-260 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49624
Feature /change: t -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1458
Feature /codon: tgt -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 486
Feature /change: C -> X
Feature /domain: EGF-LIKE
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49727
Feature /change: c -> a
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1561
Feature /codon: cgt -> agt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 521
Feature /change: R -> S
Feature /domain: TSP TYPE-1 2
Symptoms Other clinical features: history of proliferative mesangial
Symptoms glomerulonephritis
Sex XX
Ethnic origin Caucasoid; Spain
//
ID #F581X595(1),Intron 16(3); standard; MUTATION; SUSHI 1,
Accession C0034
Systematic name Allele 1: g.51094delT, c.1741delT, r.1741delu,
Systematic name p.Phe581fsX15
Systematic name Allele 2: g.IVS16+2T>C, c.2279+2T>C, r.2279+2u>c
Original code PVIII
Description Allele 1: A frame shift deletion mutation in the exon 12
Description leading to a premature stop codon in the SUSHI 1 domain
Description Allele 2: A point mutation in the intron 16 leading to an
Description amino acid change
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 51094
Feature /change: -a
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1741
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 581
Feature /change: I -> LFKMKVQCFL WGKMX
Feature /domain: SUSHI 1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 68350
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Caucasoid
Relative
Parents
//
ID #S642X652(1a),#S642X652(1a); standard; MUTATION; SUSHI 2,SUSHI 2
Accession C0018
Systematic name Allele 1 and 2: g.56309_56310delAG, c.1924_1925delAG,
Systematic name r.1924_1925delag, p.His643fsX10
Original code Patient 2
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 14 leading to a premature stop codon in the SUSHI 2 domain
Date 27-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15554930
RefAuthors Barroso, S., Sanchez, B., Alvarez, A. J., Lopez-Trascasa,
RefAuthors M., Lanuza, A., Luque, R., Wichmann, I., Nunez-Roldan, A.
RefTitle Complement component C7 deficiency in two spanish
RefTitle families.
RefLoc Immunology 113:518-523 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 56309..56310
Feature /change: -ag
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 1924..1925
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 642
Feature /change: S -> SPPKTFLHSW X
Feature /domain: SUSHI 2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 56309..56310
Feature /change: -ag
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 1924..1925
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 642
Feature /change: S -> SPPKTFLHSW X
Feature /domain: SUSHI 2
Symptoms Other clinical features: one meningococcal disease episode
Ethnic origin Caucasoid; Spain
Relative C7base; C0019 brother
Relative Other affected family members: Yes; phenotype:same
//
ID #S642X652(1b),#S642X652(1b); standard; MUTATION; SUSHI 2,SUSHI 2
Accession C0019
Systematic name Allele 1 and 2: g.56309_56310delAG, c.1924_1925delAG,
Systematic name r.1924_1925delag, p.His643fsX10
Original code Patient 3
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 14 leading to a premature stop codon in the SUSHI 2 domain
Date 27-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15554930
RefAuthors Barroso, S., Sanchez, B., Alvarez, A. J., Lopez-Trascasa,
RefAuthors M., Lanuza, A., Luque, R., Wichmann, I., Nunez-Roldan, A.
RefTitle Complement component C7 deficiency in two spanish
RefTitle families.
RefLoc Immunology 113:518-523 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 56309..56310
Feature /change: -ag
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 1924..1925
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 642
Feature /change: S -> SPPKTFLHSW X
Feature /domain: SUSHI 2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 56309..56310
Feature /change: -ag
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 1924..1925
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 642
Feature /change: S -> SPPKTFLHSW X
Feature /domain: SUSHI 2
Symptoms Other clinical features: three meningococcal disease
Symptoms episodes
Sex XY
Ethnic origin Caucasoid; Spain
Relative C7base; C0018 sibling
Relative Other affected family members: Yes; phenotype:same
//
ID E653X(1),E653X(1); standard; MUTATION; SUSHI 2,SUSHI 2
Accession C0024
Systematic name Allele 1 and 2: g.56342G>T, c.1957G>T, r.1957g>u, p.Glu653X
Original code 25-year-old woman
Description Allele 1 and 2: a point mutation in the exon 14 leading to
Description a premature stop codon in the SUSHI 2 domain
Date 28-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10319591
RefAuthors Horiuchi, T., Ferrer, J. M., Serra, P., Matamoros, N.,
RefAuthors Lopez-Trascasa, M., Hashimura, C., Niho, Y.
RefTitle A novel nonsense mutation at glu-631 in a spanish family
RefTitle with complement component 7 deficiency.
RefLoc J Hum Genet 44:215-218 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 56342
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109: 1957
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 653
Feature /change: E -> X
Feature /domain: SUSHI 2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 56342
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109: 1957
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 653
Feature /change: E -> X
Feature /domain: SUSHI 2
Symptoms Other clinical features: two meningococcal sepsis episodes
Sex XX
Ethnic origin Caucasoid; Spain
//
ID E682Q(1),R687H(1); standard; MUTATION; SUSHI 2,SUSHI 2
Accession C0011
Systematic name Allele 1: g.63958G>C, c.2044G>C, r.2044g>c, p.Glu682Gln
Systematic name Allele 2: g.63974G>A, c.2060G>A, r.2060g>a, p.Arg687His
Original code Subject 2
Description Allele 1: A point mutation in the exon 15 leading to an
Description amino acid change in the SUSHI 2 domain
Description Allele 2: A point mutation in the exon 15 leading to an
Description amino acid change in the SUSHI 2 domain
Date 10-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9856499
RefAuthors Fernie, B. A., Hobart, M. J.
RefTitle Complement C7 deficiency: seven further molecular defects
RefTitle and their associated marker haplotypes.
RefLoc Hum Genet 103:513-519 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 63958
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 2044
Feature /codon: gag -> cag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 682
Feature /change: E -> Q
Feature /domain: SUSHI 2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 63974
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 2060
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 687
Feature /change: R -> H
Feature /domain: SUSHI 2
Haplotype Allele 1:
Haplotype A/B genotype:A; MspI:-; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):L; T576S:A; M/N genotype:M; 12.-27A/C:C;
Haplotype S367T DdeI:+;
Haplotype Allele 1:
Haplotype A/B genotype:A; MspI:-; TaqI(beta):?; TaqI(225):?;
Haplotype TaqI(233):L; T576S:A; M/N genotype:M; 12.-27A/C:A;
Haplotype S367T DdeI:+;
Sex XY
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID Q703X(1),Q703X(1); standard; MUTATION; COMPLEMENT CONTR FACT I MOD 1,COMPLEMENT CONTR FACT I MOD 1
Accession C0029
Systematic name Allele 1 and 2: g.64021C>T, c.2107C>T, r.2107c>u, p.Gln703X
Original code PIII
Description Allele 1 and 2: A point mutation in the exon 15 leading to
Description a premature stop codon in the COMPLEMENT CONTR FACT I MOD 1
Description domain
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 64021
Feature /change: c -> t
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 2107
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 703
Feature /change: Q -> X
Feature /domain: COMPLEMENT CONTR FACT I MOD 1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 64021
Feature /change: c -> t
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 2107
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 703
Feature /change: Q -> X
Feature /domain: COMPLEMENT CONTR FACT I MOD 1
Symptoms Bacterial infections
Symptoms Meningitis
Sex XY
Ethnic origin Caucasoid
Relative
Parents
//
ID #V714X715(1),#V714X715(1); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.64054_64055delGT, c.2140_2141delGT,
Systematic name r.2140_2141delgu, p.Val714fsX2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 15 leading to a premature stop codon in the COMPLEMENT
Description CONTR FACT I MOD 1 domain
Date 08-Jul-2002 (Rel. 1, Created)
Date 18-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8892662
RefAuthors Nishizaka, H., Horiuchi, T., Zhu, Z. B., Fukumori, Y.,
RefAuthors Volanakis, J. E.
RefTitle Genetic bases of human complement C7 deficiency.
RefLoc J Immunol 157:4239-4243 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 64054..64055
Feature /change: -gt
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 2140..2141
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 714
Feature /change: V -> LX
Feature /domain: COMPLEMENT CONTR FACT I MOD 1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 64054..64055
Feature /change: -gt
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 2140..2141
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 714
Feature /change: V -> LX
Feature /domain: COMPLEMENT CONTR FACT I MOD 1
Sex XY
Symptoms Patient had no history of neisserial infections.
Comments Patient was found C7 deficient during a large-scale screening
Comments of healthy blood donors.
Comments Deletion also possible in
Comments Allele 1 and 2: g.49272_49273delTG, c.2137_2138delTG,
Comments p.C713fsX715
Comments Allele 1 and 2: g.49273_49274delGT, c.2138_2139delGT,
Comments p.C713fsX715
Comments Allele 1 and 2: g.49274_49275delTG, c.2139_2140delTG,
Comments p.C713fsX715
//
ID C750X(1),C750X(1); standard; MUTATION;
Accession C0001
Systematic name Allele 1 and 2: g.68319T>A, c.2250T>A, r.2250u>a, p.Cys750X
Original code case 1
Description Allele 1 and 2: point mutation in the exon 16 leading to a
Description premature stop codon in the COMPLEMENT CONTR FACT I MOD 1
Description domain
Date 08-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8892662
RefAuthors Nishizaka, H., Horiuchi, T., Zhu, Z. B., Fukumori, Y.,
RefAuthors Volanakis, J. E.
RefTitle Genetic bases of human complement C7 deficiency.
RefLoc J Immunol 157:4239-4243 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 68319
Feature /change: t -> a
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109: 2250
Feature /codon: tgt -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 750
Feature /change: C -> X
Feature /domain: COMPLEMENT CONTR FACT I MOD 1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 68319
Feature /change: t -> a
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0109: 2250
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 750
Feature /change: C -> X
Feature /domain: COMPLEMENT CONTR FACT I MOD 1
Sex XY
Ethnic origin Mongoloid
Relative Description of pedigree:Patient's parents and sister are
Relative heterozygous for this mutation.
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Other clinical features: Patient was admitted to hospital
Symptoms for somnolence and a skin rash. He was diagnosed with
Symptoms meningitis (N. meningitidis - serogroup B), septic shock,
Symptoms disseminated intravascular coagulation, adrenocortical
Symptoms insufficiency and cardiac failure with evidence of
Symptoms myocardial infarction.
//
ID #A784X808(1),Intron 16(1); standard; MUTATION;
Accession C0010
Systematic name Allele 1: g.71303delG, c.2350delG, r.2350delg,
Systematic name p.Ala784fsX25
Systematic name Allele 2: g.IVS16+2T>C
Original code Subject 1
Description Allele 1: A frame shift deletion mutation in the exon 17
Description leading to a premature stop codon in the COMPLEMENT CONTR
Description FACT I MOD 2 domain
Description Allele 2: point mutation in the intron 16 leading to an
Description amino acid change
Date 10-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9856499
RefAuthors Fernie, B. A., Hobart, M. J.
RefTitle Complement C7 deficiency: seven further molecular defects
RefTitle and their associated marker haplotypes.
RefLoc Hum Genet 103:513-519 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0109: 71303
Feature /change: -g
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0109: 2350
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000578: 784
Feature /change: A -> LRAANVSAEK HRSARKKGLA FVWKX
Feature /domain: COMPLEMENT CONTR FACT I MOD 2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 68350
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Haplotype Allele 1:
Haplotype A/B genotype:A; MspI:+; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; T576S:A; M/N genotype:M; 12.-27A/C:C;
Haplotype S367T DdeI:+;
Haplotype Allele 1:
Haplotype A/B genotype:A; MspI:+; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; T576S:A; M/N genotype:M; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree:Patient is from white South
Relative African family. Patient's parents and brother are
Relative heterozygous for C7 deficiency whereas patient's sister is
Relative healthy.
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID Intron 1(1a),Deletion(1a); standard; MUTATION;
Accession C0003
Systematic name Allele 1: g.IVS1-1G>A
Systematic name Allele 2: c.853-?_1207+?del
Original code II-1
Description Allele 1: point mutation in the intron 1 leading to an
Description amino acid change, unsuccessful splicing and premature
Description stop codon
Description Allele 2: deletion of exons 7 and 8
Date 09-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 9218625
RefAuthors Fernie, B. A., Orren, A., Sheehan, G., Schlesinger, M.,
RefAuthors Hobart, M. J.
RefTitle Molecular bases of C7 deficiency: three different defects.
RefLoc J Immunol 159:1019-1026 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 20087
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 7-8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Haplotype Allele 1:
Haplotype A/B genotype:A; MspI:+; TaqI(beta):H; TaqI(225):L;
Haplotype TaqI(233):H; T576S:A; M/N genotype:M; 12.-27A/C:C;
Haplotype S367T DdeI:-;
Haplotype Allele 2:
Haplotype A/B genotype:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):H; T576S:T; M/N genotype:M; 12.-27A/C:C;
Haplotype S367T DdeI:+;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is from an Irish
Relative family and has two brothers one of whom has also C7
Relative deficiency (II-2)
Relative C7base; C0004 brother
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID Intron 1(1b),Deletion(1b); standard; MUTATION;
Accession C0004
Systematic name Allele 1: g.IVS1-1G>A
Systematic name Allele 2: c.853-?_1207+?del
Original code II-2
Description Allele 1: point mutation in the intron 1 leading to an
Description amino acid change, unsuccessful splicing and premature
Description stop codon
Description Allele 2: deletion of exons 7 and 8
Date 09-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 9218625
RefAuthors Fernie, B. A., Orren, A., Sheehan, G., Schlesinger, M.,
RefAuthors Hobart, M. J.
RefTitle Molecular bases of C7 deficiency: three different defects.
RefLoc J Immunol 159:1019-1026 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 20087
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 7-8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Haplotype Allele 1:
Haplotype A/B genotype:A; MspI:+; TaqI(beta):H; TaqI(225):L;
Haplotype TaqI(233):H; T576S:?; M/N genotype:M; 12.-27A/C:?;
Haplotype S367T DdeI:-;
Haplotype Allele 2:
Haplotype A/B genotype:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):H; T576S:?; M/N genotype:M; 12.-27A/C:?;
Haplotype S367T DdeI:+;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is from an Irish
Relative family and has two brothers one of whom has also C7
Relative deficiency (II-1)
Relative C7base; C0003 brother
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
ID Intron 3(1),Deletion(1); standard; MUTATION;
Accession C0020
Systematic name Allele 1: g.IVS3-1G>T, c.G>T, r.g>u,
Original code 11-yr-old girl
Description Allele 1: a point mutation in the intron 3 leading to
Description aberrant splicing
Description Allele 2: Large deletion encompassing almost the whole gene
Description from exon 0 to exon 16 (see Ref[2])
Date 28-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15831990
RefAuthors Ki, C. S., Kim, J. W., Kim, H. J., Choi, S. M., Ha, G. Y.,
RefAuthors Kang, H. J., Kim, W. D.
RefTitle Two novel mutations in the C7 gene in a korean patient
RefTitle with complement C7 deficiency.
RefLoc J Korean Med Sci 20:220-224 (2005)
RefNumber [2]
RefCrossRef PUBMED; 7730625
RefAuthors Hobart, M. J., Fernie, B. A., DiScipio, R. G.
RefTitle Structure of the human C7 gene and comparison with the C6,
RefTitle C8A, C8B, and C9 genes.
RefLoc J Immunol 154:5188-5194 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 25832
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exons; 0-16 (see Ref[2])
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Mongoloid; Korea
//
ID Intron 3(2),Intron 3(2); standard; MUTATION;
Accession C0023
Systematic name Allele 1 and 2: g.IVS3-1G>T, c.G>T, r.g>u,
Original code Family 2; II:1
Description Allele 1 and 2: a point mutation in the intron 3 leading to
Description aberrant splicing
Date 28-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16552475
RefAuthors Kang, H. J., Ki, C. S., Kim, Y. S., Hur, M., Jang, S. I.,
RefAuthors Min, K. S.
RefTitle Two mutations of the C7 gene, c.1424G > A and c.281-
RefTitle 1G > T, in two korean families.
RefLoc J Clin Immunol 26:186-191 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 25832
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 25832
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Bacterial infections
Symptoms Meningitis
Sex XY
Ethnic origin Mongoloid; Korea
//
ID R521S(3),Intron 16(2); standard; MUTATION;
Accession C0028
Systematic name Allele 1: g.49727C>A, c.1561C>A, r.1561c>a, p.Arg521Ser
Systematic name Allele 2: g.IVS16+2T>C, c.2279+2T>C, r.2279+2u>c
Original code PII
Description Allele 1: A point mutation in the exon 11 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 16 leading to
Description an amino acid change
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 49727
Feature /change: c -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0109; GI:4557387; C7C: 1561
Feature /codon: cgt -> agt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000578: 521
Feature /change: R -> S
Feature /domain: TSP TYPE-1 2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 68350
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Caucasoid
Relative
Parents
//
ID Intron 16(4),Intron 16(4); standard; MUTATION;
Accession C0035
Systematic name Allele 1 and 2: g.IVS16+2T>C, c.2279+2T>C, r.2279+2u>c
Original code PIX
Description Allele 1 and 2: A point mutation in the intron 16 leading
Description to an amino acid change
Date 09-Jun-2008 (Rel. 2, Created)
Date 09-Jun-2008 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407100
RefAuthors Rameix-Welti, M. A., Regnier, C. H., Bienaime, F., Blouin,
RefAuthors J., Schifferli, J., Fridman, W. H., Sautes-Fridman, C.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Hereditary complement C7 deficiency in nine families:
RefTitle subtotal C7 deficiency revisited.
RefLoc Eur J Immunol:1377-1385 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0109: 68350
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0109: 68350
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Caucasoid
Relative
Parents
//
ID Deletion(2),Deletion(2); standard; MUTATION;
Accession C0005
Systematic name Allele 1 and 2: c.853-?_1207+?del
Original code II-2
Description Allele 1 and 2: deletion of exons 7 and 8
Date 09-Jul-2002 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 9218625
RefAuthors Fernie, B. A., Orren, A., Sheehan, G., Schlesinger, M.,
RefAuthors Hobart, M. J.
RefTitle Molecular bases of C7 deficiency: three different defects.
RefLoc J Immunol 159:1019-1026 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 1
Feature /name: deletion
Feature /genomic_region: exon; 7-8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 7-8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Haplotype Allele 1:
Haplotype A/B genotype:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):H; T576S:T; M/N genotype:M; 12.-27A/C:C;
Haplotype S367T DdeI:+;
Haplotype Allele 2:
Haplotype A/B genotype:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):H; T576S:T; M/N genotype:M; 12.-27A/C:C;
Haplotype S367T DdeI:+;
Sex XX
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is from an Irish
Relative family and has two sisters the other having normal
Relative C7 and the other being heterozygous for C7
Relative deficiency
Symptoms Bacterial infections
Symptoms Meningitis
Comments C6: A/B genotype; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); T576S A/T; M/N genotype
Comments C7: 12.-27A/C; S367T DdeI
//
//
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