Database C1QBbase
Version 1.0
File c1qbpub.html
Date 06-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/C1QBbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF49.html
Gene C1QB
Disease C1qB deficiency
OMIM 120570
Sequence IDRefSeq:D0111; IDRefSeq:C0111; UniProt:P02746
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID G42D(1a),G42D(1a); standard; MUTATION; Coll,Coll
Accession C0002
Systematic name Allele 1 and 2: g.7335G>A, c.125G>A, r.125g>a, p.Gly42Asp
Original code II-3
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the Coll domain
Date 08-Sep-2005 (Rel. 1, Created)
Date 08-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476130
RefAuthors Petry, F., Hauptmann, G., Goetz, J., Grosshans, E., Loos,
RefAuthors M.
RefTitle Molecular basis of a new type of C1q-deficiency associated
RefTitle with a non-functional low molecular weight (LMW) C1q:
RefTitle parallels and differences to other known genetic C1q-
RefTitle defects.
RefLoc Immunopharmacology 38:189-201 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0111: 7335
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0111: 188
Feature /codon: ggt -> gat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 42
Feature /change: G -> D
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0111: 7335
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0111: 188
Feature /codon: ggt -> gat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 42
Feature /change: G -> D
Feature /domain: Coll
Symptoms Discoid lupus erythematosus
Sex XY
Ethnic origin Moroccan
Parents Consanguineous
Relative C1QBbase; C0003 sister
Relative C1QBbase; C0004 brother
//
ID G42D(1b),G42D(1b); standard; MUTATION; Coll,Coll
Accession C0003
Systematic name Allele 1 and 2: g.7335G>A, c.125G>A, r.125g>a, p.Gly42Asp
Original code II-2
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the Coll domain
Date 08-Sep-2005 (Rel. 1, Created)
Date 08-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476130
RefAuthors Petry, F., Hauptmann, G., Goetz, J., Grosshans, E., Loos,
RefAuthors M.
RefTitle Molecular basis of a new type of C1q-deficiency associated
RefTitle with a non-functional low molecular weight (LMW) C1q:
RefTitle parallels and differences to other known genetic C1q-
RefTitle defects.
RefLoc Immunopharmacology 38:189-201 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0111: 7335
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0111: 188
Feature /codon: ggt -> gat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 42
Feature /change: G -> D
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0111: 7335
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0111: 188
Feature /codon: ggt -> gat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 42
Feature /change: G -> D
Feature /domain: Coll
Symptoms Subacute lupus erythematosus
Sex XX
Ethnic origin Moroccan
Parents Consanguineous
Relative C1QBbase; C0002 brother
Relative C1QBbase; C0004 brother
//
ID G42D(1c),G42D(1c); standard; MUTATION; Coll,Coll
Accession C0004
Systematic name Allele 1 and 2: g.7335G>A, c.125G>A, r.125g>a, p.Gly42Asp
Original code II-4
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the Coll domain
Date 08-Sep-2005 (Rel. 1, Created)
Date 08-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476130
RefAuthors Petry, F., Hauptmann, G., Goetz, J., Grosshans, E., Loos,
RefAuthors M.
RefTitle Molecular basis of a new type of C1q-deficiency associated
RefTitle with a non-functional low molecular weight (LMW) C1q:
RefTitle parallels and differences to other known genetic C1q-
RefTitle defects.
RefLoc Immunopharmacology 38:189-201 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0111: 7335
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0111: 188
Feature /codon: ggt -> gat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 42
Feature /change: G -> D
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0111: 7335
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0111: 188
Feature /codon: ggt -> gat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 42
Feature /change: G -> D
Feature /domain: Coll
Symptoms Subacute lupus erythematosus
Sex XY
Ethnic origin Moroccan
Parents Consanguineous
Relative C1QBbase; C0002 brother
Relative C1QBbase; C0003 sister
//
ID R177X(1),R177X(1); standard; MUTATION; C1q,C1q
Accession C0001
Systematic name Allele 1 and 2: g.8907C>T, c.529C>T, r.529c>u, p.Arg177X
Original code DAB
Description Allele 1 and 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the C1q domain
Date 08-Sep-2005 (Rel. 1, Created)
Date 08-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 2894352
RefAuthors McAdam, R. A., Goundis, D., Reid, K. B.
RefTitle A homozygous point mutation results in a stop codon in the
RefTitle C1q B-chain of a C1q-deficient individual.
RefLoc Immunogenetics 27:259-264 (1988)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0111: 8907
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0111: 592
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02746; C1QB_HUMAN: 177
Feature /change: R -> X
Feature /domain: C1q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0111: 8907
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0111: 592
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02746; C1QB_HUMAN: 177
Feature /change: R -> X
Feature /domain: C1q
Symptoms Lupuslike disease
Sex XX
Ethnic origin Mexican
//
ID G244R(1),G244R(1); standard; MUTATION; C1q,C1q
Accession C0007
Systematic name Allele 1 and 2: g.9108G>A, c.730G>A, r.730g>a, p.Gly244Arg
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the C1q domain
Date 27-Apr-2011 (Rel. 1, Created)
Date 27-Apr-2011 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (27-Apr-2011) to C1QBbase.
RefLoc Lone Schejbel; e-mail lone.schejbel@rh.regionh.dk
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0111: 9108
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0111; GI:11038661; C1QBC: 793
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 244
Feature /change: G -> R
Feature /domain: C1q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0111: 9108
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0111; GI:11038661; C1QBC: 793
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P02746; C1QB_HUMAN: 244
Feature /change: G -> R
Feature /domain: C1q
//
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