Database C1QCbase
Version 1.0
File c1qcpub.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/C1QCbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF50.html
Gene C1QC
Disease C1qG deficiency
OMIM 120575
Sequence IDRefSeq:D0008; IDRefSeq:C0008; UniProt:P02747
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID G34R(1),G34R(1); standard; MUTATION; Coll,Coll
Accession C0001
Systematic name Allele 1 and 2: g.1491G>A, c.100G>A, r.100g>a, p.Gly34Arg
Original code Patient 1
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change in the Coll domain
Date 07-Oct-2004 (Rel. 1, Created)
Date 07-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8630118
RefAuthors Slingsby, J. H., Norsworthy, P., Pearce, G., Vaishnaw, A.
RefAuthors K., Issler, H., Morley, B. J., Walport, M. J.
RefTitle Homozygous hereditary C1q deficiency and systemic lupus
RefTitle erythematosus. A new family and the molecular basis of
RefTitle C1q deficiency in three families.
RefLoc Arthritis Rheum 39:663-670 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0008: 1491
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: C0008: 218
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P02747; C1QC_HUMAN: 34
Feature /change: G -> R
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0008: 1491
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: C0008: 218
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P02747; C1QC_HUMAN: 34
Feature /change: G -> R
Feature /domain: Coll
Symptoms umbilical sepsis 10 days after birth; erythematous, scaly
Symptoms rash on his cheeks, forehead, hands, buttocs, and knees;
Symptoms inflammation of the nailbeds of his fingers and toes; at
Symptoms the age of 2, a further rush of both soles, palmar erythema
Symptoms and telangiectasia of the nailfolds of his fingers and toes
Sex XY
Ethnic origin India
Parents Consanguineous
//
ID R69X(2),R69X(2); standard; MUTATION; Coll,Coll
Accession C0004
Systematic name Allele 1 and 2: g.4618C>T, c.205C>T, r.205c>u, p.Arg69X
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the Coll 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 C1QCbase.
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: D0008: 4618
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0008; GI:16553734; C1QCC: 323
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02747; C1QC_HUMAN: 69
Feature /change: R -> X
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0008: 4618
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0008; GI:16553734; C1QCC: 323
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02747; C1QC_HUMAN: 69
Feature /change: R -> X
Feature /domain: Coll
//
ID R69X(1),R69X(1); standard; MUTATION; Coll,Coll
Accession C0003
Systematic name Allele 1 and 2: g.4618C>T, c.205C>T, r.205c>u, p.Arg69X
Original code Patient 3
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description a premature stop codon in the Coll domain
Date 08-Oct-2004 (Rel. 1, Created)
Date 08-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8630118
RefAuthors Slingsby, J. H., Norsworthy, P., Pearce, G., Vaishnaw, A.
RefAuthors K., Issler, H., Morley, B. J., Walport, M. J.
RefTitle Homozygous hereditary C1q deficiency and systemic lupus
RefTitle erythematosus. A new family and the molecular basis of
RefTitle C1q deficiency in three families.
RefLoc Arthritis Rheum 39:663-670 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0008: 4618
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0008: 323
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02747; C1QC_HUMAN: 69
Feature /change: R -> X
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0008: 4618
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0008: 323
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02747; C1QC_HUMAN: 69
Feature /change: R -> X
Feature /domain: Coll
//
ID #P71X137(1),#P71X137(1); standard; MUTATION; Coll,Coll
Accession C0002
Systematic name Allele 1 and 2: g.4626delC, c.213delC, r.213delc,
Systematic name p.Gln74fsX64
Original code Patient 2
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the Coll domain
Date 08-Oct-2004 (Rel. 1, Created)
Date 08-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8630118
RefAuthors Slingsby, J. H., Norsworthy, P., Pearce, G., Vaishnaw, A.
RefAuthors K., Issler, H., Morley, B. J., Walport, M. J.
RefTitle Homozygous hereditary C1q deficiency and systemic lupus
RefTitle erythematosus. A new family and the molecular basis of
RefTitle C1q deficiency in three families.
RefLoc Arthritis Rheum 39:663-670 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0008: 4626
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0008: 331
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02747; C1QC_HUMAN: 71
Feature /change: P ->
Feature /change: PKGRRENPAY PAILGKMAPW DPLGCQGCPA PWASLESQVR
Feature /change: RADTSRNSSQ CSRSLGRPTS PLHPTAX
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0008: 4626
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0008: 331
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P02747; C1QC_HUMAN: 71
Feature /change: P ->
Feature /change: PKGRRENPAY PAILGKMAPW DPLGCQGCPA PWASLESQVR
Feature /change: RADTSRNSSQ CSRSLGRPTS PLHPTAX
Feature /domain: Coll
//
ID G76R(1),G76R(1); standard; MUTATION; Coll,Coll
Accession C0005
Systematic name Allele 1 and 2: g.4639G>A, c.226G>A, r.226g>a, p.Gly76Arg
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the Coll 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 C1QCbase.
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: D0008: 4639
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0008; GI:16553734; C1QCC: 344
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P02747; C1QC_HUMAN: 76
Feature /change: G -> R
Feature /domain: Coll
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0008: 4639
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0008; GI:16553734; C1QCC: 344
Feature /codon: gga -> aga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P02747; C1QC_HUMAN: 76
Feature /change: G -> R
Feature /domain: Coll
//
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