Database C1QAbase
Version 1.0
File c1qapub.html
Date 10-Mar-2014
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/C1QAbase/
FTP ftp://protein.uta.fi/pub/c1qapub.dat
IDR factfile http://structure.bmc.lu.se/idbase/xml/idr/ff/FF48.xml
Gene C1QA
Disease C1qA Deficiency
OMIM 120550
GDB 119042
Sequence IDRefSeq:D0007; IDRefSeq:C0007; GenBank:NP_057075
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #E53X281(1),Q64X(1); standard; MUTATION; COLLAGEN-L,COLLAGEN-L
Accession C0011
Systematic name Allele 1: g.1169delG, c.157delG, r.157delg, p.Glu53fsX229
Systematic name Allele 2: g.2255C>T, c.190C>T, r.190c>u, p.Gln64X
Description Allele 1: A frame shift deletion mutation in the exon 1
Description leading to a premature stop codon in the COLLAGEN-L domain
Description Allele 2: A point mutation in the exon 2 leading to a
Description premature stop codon in the COLLAGEN-L 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 C1QAbase.
RefLoc Lone Schejbel; e-mail lone.schejbel@rh.regionh.dk
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: C1QA_DNA: 1169
Feature /change: -g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_015991; GI:7705753; : 169
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 53
Feature /change: E ->
Feature /change: SRGPLASGQA SKALKETRGN LGPLETPARW ATQGPAAPSG
Feature /change: PVASRELKAP RAAQETSRTS RGQPSPPFGG TPQWGATWSS
Feature /change: STRSSPTRKN RTRTTPADSS ALYPATTTSP SRCCPSGKSA
Feature /change: CPSSPPQGAR SDAPWASVTP PTRGSSRWCQ GAWCFSCSRV
Feature /change: TRSGLKKTPK RVTFTRALRP TASSAASSSS HLPEPGKDPL
Feature /change: PHPPLWLPCS ACKMGALLLQ LLKGGGWLX
Feature /domain: COLLAGEN-L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: C1QA_DNA: 2255
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_015991; GI:7705753; : 202
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 64
Feature /change: Q -> X
Feature /domain: COLLAGEN-L
Relative Other affected family members: Yes
Parents
Comment Allele 1 feature is denoted as out of frame translation;
Comment premature termination in codon 281, but the Genebank allele
Comment terminates in codon 265 so the usual termination site is
Comment missed
//
ID Q208X(1),Q208X(1); standard; MUTATION;
Accession C0001
Systematic name Allele 1 and 2: g.2687C>T, c.634C>T, p.Q208X
Original code R
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon in the C1Q domain
Date 15-Jul-2002 (Rel. 1, Created)
Date 15-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594474
RefAuthors Petry, F., Le, D. T., Kirschfink, M., Loos, M.
RefTitle Non-sense and missense mutations in the structural genes
RefTitle of complement component C1q A and C chains are linked with
RefTitle two different types of complete selective C1q
RefTitle deficiencies.
RefLoc J Immunol 155:4734-4738 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Symptoms General
Symptoms Increased susceptibility to infectious diseases
Symptoms Rheumatic diseases
Symptoms Symptoms of systemic lupus erythematosus (SLE)
Symptoms Other clinical features: Recurrent bacterial infections
//
ID Q208X(2a),Q208X(2a); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.2687C>T, c.634C>T, p.Q208X
Original code family 1; II-1
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon in the C1Q domain
Date 16-Jul-2002 (Rel. 1, Created)
Date 16-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9225968
RefAuthors Petry, F., Berkel, A. I., Loos, M.
RefTitle Multiple identification of a particular type of hereditary
RefTitle C1q deficiency in the turkish population: review of the
RefTitle cases and additional genetic and functional analysis.
RefLoc Hum Genet 100:51-56 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Sex XY
Ethnic origin Caucasoid
Relative Patient had three siblings. One is C1q deficient and
Relative two siblings are heterozygotes and healthy.
Relative C1QAbase; C0003 sister
Symptoms Bacterial infections
Symptoms Pneumonia
Symptoms Otitis
Symptoms Kidney abnormalities
Symptoms Severe renal malfunction
Symptoms Other clinical features: At the age of 5.5 years patient
Symptoms presented with erythematous and crusted, desquamative skin
Symptoms lesions on his face and extremities. Patient had also oral
Symptoms aphtous lesions. Patient developed glomerulonephritis
Symptoms three years later and after 9 months he died of renal
Symptoms failure.
//
ID Q208X(2b),Q208X(2b); standard; MUTATION;
Accession C0003
Systematic name Allele 1 and 2: g.2687C>T, c.634C>T, p.Q208X
Original code family 1; II-2
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon in the C1Q domain
Date 16-Jul-2002 (Rel. 1, Created)
Date 16-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9225968
RefAuthors Petry, F., Berkel, A. I., Loos, M.
RefTitle Multiple identification of a particular type of hereditary
RefTitle C1q deficiency in the turkish population: review of the
RefTitle cases and additional genetic and functional analysis.
RefLoc Hum Genet 100:51-56 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Sex XX
Ethnic origin Caucasoid
Relative Patient had three siblings. One is C1q deficient and
Relative two siblings are heterozygotes and healthy.
Relative C1QAbase; C0002 brother
Symptoms Other clinical features: Despite of C1q deficiency
Symptoms individual is asymptomatic.
//
ID Q208X(3a),Q208X(3a); standard; MUTATION;
Accession C0004
Systematic name Allele 1 and 2: g.2687C>T, c.634C>T, p.Q208X
Original code family 2; III-2
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon in the C1Q domain
Date 16-Jul-2002 (Rel. 1, Created)
Date 16-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9225968
RefAuthors Petry, F., Berkel, A. I., Loos, M.
RefTitle Multiple identification of a particular type of hereditary
RefTitle C1q deficiency in the turkish population: review of the
RefTitle cases and additional genetic and functional analysis.
RefLoc Hum Genet 100:51-56 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Sex XX
Ethnic origin Caucasoid
Relative Patient had two siblings. One (III-3) is C1q deficient and
Relative the other (III-1) is heterozygotes and healthy.
Relative C1QAbase; C0005 sister
Symptoms Other clinical features: Patient died of sepsis-like
Symptoms illness.
//
ID Q208X(3b),Q208X(3b); standard; MUTATION;
Accession C0005
Systematic name Allele 1 and 2: g.2687C>T, c.634C>T, p.Q208X
Original code family 2; III-3
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon in the C1Q domain
Date 16-Jul-2002 (Rel. 1, Created)
Date 16-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9225968
RefAuthors Petry, F., Berkel, A. I., Loos, M.
RefTitle Multiple identification of a particular type of hereditary
RefTitle C1q deficiency in the turkish population: review of the
RefTitle cases and additional genetic and functional analysis.
RefLoc Hum Genet 100:51-56 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Sex XX
Ethnic origin Caucasoid
Relative Patient had two siblings. One (III-2) is C1q deficient and
Relative the other (III-1) is heterozygotes and healthy.
Relative C1QAbase; C0004 sister
//
ID Q208X(4),Q208X(4); standard; MUTATION;
Accession C0006
Systematic name Allele 1 and 2: g.2687C>T, c.634C>T, p.Q208X
Original code family 3; II-1
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon in the C1Q domain
Date 16-Jul-2002 (Rel. 1, Created)
Date 16-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9225968
RefAuthors Petry, F., Berkel, A. I., Loos, M.
RefTitle Multiple identification of a particular type of hereditary
RefTitle C1q deficiency in the turkish population: review of the
RefTitle cases and additional genetic and functional analysis.
RefLoc Hum Genet 100:51-56 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0007: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0007: 634
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Sex XY
Ethnic origin Caucasoid
Relative One of patient's siblings (youngest brother II-5) is
Relative heterozygous for this mutation. Other siblings
Relative (two brothers and sister) are normal.
//
ID Q208X(5),Q208X(5); standard; MUTATION; C1Q,C1Q
Accession C0007
Systematic name Allele 1 and 2: g.2687C>T, c.622C>T, r.622c>u, p.Gln208X
Original code 13-year-old boy
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon in the C1Q domain
Date 03-Sep-2007 (Rel. 1, Created)
Date 03-Sep-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15479911
RefAuthors Hoppenreijs, E. P., van Dijken, P. J., Kabel, P. J., Th
RefAuthors Draaisma, J. M.
RefTitle Hereditary C1q deficiency and secondary sjögren's
RefTitle syndrome.
RefLoc Ann Rheum Dis:1524-1525 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: C1QA_DNA: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_015991; GI:7705753; : 634
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Feature /domain: C1Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: C1QA_DNA: 2687
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_015991; GI:7705753; : 634
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 208
Feature /change: Q -> X
Feature /domain: C1Q
Symptoms Other clinical features: SLE-like disease developed
Symptoms recurrent parotitis, a secondary Sjögren's syndrome,
Symptoms recurrent arthritis of his right elbow and pericarditis
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID W216X(1),W216X(1); standard; MUTATION; C1Q,C1Q
Accession C0010
Systematic name Allele 1 and 2: g.2713G>A, c.648G>A, r.648g>a, p.Trp216X
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon 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 C1QAbase.
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: C1QA_DNA: 2713
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_015991; GI:7705753; : 660
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 216
Feature /change: W -> X
Feature /domain: C1Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: C1QA_DNA: 2713
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_015991; GI:7705753; : 660
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_057075: 216
Feature /change: W -> X
Feature /domain: C1Q
Relative Other affected family members: Yes
Parents
//
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