Database C2base
Version 1.1
File c2pub.html
Date 19-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/C2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF90.html
Gene C2
Disease C2 Deficiency
OMIM 217000
GDB 119731
Sequence IDRefSeq:D0094; IDRefSeq:C0094; GenBank:NP_000054
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID C131Y(1),E318D(1); standard; MUTATION;
Accession C0001
Systematic name Allele 1: g.2151G>A, c.428G>A, p.C131Y
Systematic name Allele 2: g.9059G>C, c.990G>C, p.E318D
Description Allele 1: point mutation in the exon 3 leading to an amino
Description acid change in the SUSHI2 domain
Description Allele 2: point mutation in the exon 7 leading to an amino
Description acid change in the VWFA domain
Date 25-Sep-2001 (Rel. 1, Created)
Date 25-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9670930
RefAuthors Zhu, Z. B., Atkinson, T. P., Volanakis, J. E.
RefTitle A novel type II complement C2 deficiency allele in an
RefTitle african-american family.
RefLoc J Immunol 161:578-584 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0094: 2151
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0094: 428
Feature /codon: tgt -> tat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000054: 131
Feature /change: C -> Y
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0094: 9059
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0094: 990
Feature /codon: gag -> gac; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000054: 318
Feature /change: E -> D
Sex XY
Ethnic origin Negroid
Status quo Alive
Symptoms Emerged at the age of 4
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Septic arthritis
//
ID #V281X282(1a),G464R(1a); standard; MUTATION;
Accession C0002
Systematic name Allele 1: g.7326_7353del, c.877_904del, p.V281fsX282
Systematic name Allele 2: g.16300G>A, c.1426G>A, p.G464R
Original code B-III-9
Description Allele 1: deletion in the exon 6 leading to a premature
Description stop codon in the VWFA domain
Description Allele 2: point mutation in the exon 11 leading to an
Description amino acid change
Date 10-Oct-2001 (Rel. 1, Created)
Date 10-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8621452
RefAuthors Wetsel, R. A., Kulics, J., Lokki, M. L., Kiepiela, P.,
RefAuthors Akama, H., Johnson, C. A., Densen, P., Colten, H. R.
RefTitle Type II human complement C2 deficiency. allele-specific
RefTitle amino acid substitutions (ser189 --> phe; gly444 --> arg)
RefTitle cause impaired C2 secretion.
RefLoc J Biol Chem 271:5824-5831 (1996)
RefNumber [2]
RefCrossRef PUBMED; 1542325
RefAuthors Johnson, C. A., Densen, P., Wetsel, R. A., Cole, F. S.,
RefAuthors Goeken, N. E., Colten, H. R.
RefTitle Molecular heterogeneity of C2 deficiency.
RefLoc N Engl J Med 326:871-874 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0094: 7326..7353
Feature /change: -gtggacaggg tcaggaatca ggagtctg
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0094: 877..904
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000054: 281..290
Feature /change: VDRVRNQESD -> MX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0094: 16300
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0094: 1426
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000054: 464
Feature /change: G -> R
Protein Defects of C2 expression
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree:Both patient's siblings (B-III-7 &
Relative B-III-8 ; C0003) have had multiple episodes of otitis media and
Relative pneumonia. One of the sisters (B-III-8) has C2 deficiency.
Relative Mother has Type I C2Q0 gene and father is homozygous
Relative containing both Type II C2Q0 genes.
Relative C2base; C0003 sister
Status quo Alive
Symptoms Emerged at the age of 7
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Bacteremia
Symptoms Pneumonia
//
ID #V281X282(1b),G464R(1b); standard; MUTATION;
Accession C0003
Systematic name Allele 1: g.7326_7353del, c.877_904del, p.V281fsX282
Systematic name Allele 2: g.16300G>A, c.1426G>A, p.G464R
Original code B-III-8
Description Allele 1: deletion in the exon 6 leading to a premature
Description stop codon in the VWFA domain
Description Allele 2: point mutation in the exon 11 leading to an
Description amino acid change
Date 10-Oct-2001 (Rel. 1, Created)
Date 10-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8621452
RefAuthors Wetsel, R. A., Kulics, J., Lokki, M. L., Kiepiela, P.,
RefAuthors Akama, H., Johnson, C. A., Densen, P., Colten, H. R.
RefTitle Type II human complement C2 deficiency. allele-specific
RefTitle amino acid substitutions (ser189 --> phe; gly444 --> arg)
RefTitle cause impaired C2 secretion.
RefLoc J Biol Chem 271:5824-5831 (1996)
RefNumber [2]
RefCrossRef PUBMED; 1542325
RefAuthors Johnson, C. A., Densen, P., Wetsel, R. A., Cole, F. S.,
RefAuthors Goeken, N. E., Colten, H. R.
RefTitle Molecular heterogeneity of C2 deficiency.
RefLoc N Engl J Med 326:871-874 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0094: 7326..7353
Feature /change: -gtggacaggg tcaggaatca ggagtctg
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0094: 877..904
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000054: 281..290
Feature /change: VDRVRNQESD -> MX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0094: 16300
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0094: 1426
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000054: 464
Feature /change: G -> R
Protein Defects of C2 expression
Sex XX
Ethnic origin Caucasoid
Relative Description of pedigree:Patient's brother (B-III-9 ;
Relative C0002) has C2 deficiency. Mother has Type I C2Q0 gene and
Relative father is homozygous containing both Type II C2Q0
Relative genes.
Relative C2base; C0002 brother
Status quo Alive
Symptoms Bacterial infections
Symptoms Pneumonia
Symptoms Otitis
//
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