Database C1Sbase
Version 1.0
File c1spub.html
Date 16-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/C1Sbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF52.html
Gene C1S
Disease C1s Deficiency
OMIM 120580
GDB 119730
Sequence IDRefSeq:D0009; IDRefSeq:C0009; GenBank:NP_001725
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Y204X(1a),Y204X(1a); standard; MUTATION; CUB2,CUB2
Accession C0006
Systematic name Allele 1 and 2: g.5447C>G, c.612C>G, r.612c>g, p.Tyr204X
Original code IV-1
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the CUB2 domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18062908
RefAuthors Amano, M. T., Ferriani, V. P., Florido, M. P., Reis, E.
RefAuthors S., Delcolli, M. I., Azzolini, A. E., Assis-Pandochi, A.
RefAuthors I., Sjoholm, A. G., Farah, C. S., Jensenius, J. C., Isaac,
RefAuthors L.
RefTitle Genetic analysis of complement C1s deficiency associated
RefTitle with systemic lupus erythematosus highlights alternative
RefTitle splicing of normal C1s gene.
RefLoc Mol Immunol:1693-1702 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 5447
Feature /change: c -> g
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001734; GI:4502495; : 814
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 204
Feature /change: Y -> X
Feature /domain: CUB2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 5447
Feature /change: c -> g
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_001734; GI:4502495; : 814
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 204
Feature /change: Y -> X
Feature /domain: CUB2
Age 7
Sex XX
Ethnic origin Brazil
Parents Consanguineous
Symptoms Bacterial infections
Symptoms Sinusitis
Symptoms Pneumonia
Symptoms Kidney abnormalities
Symptoms Proteinuria
Symptoms Other clinical features: Septic arthritis, Positive ANA
Symptoms and anti-Sm antibody
Relative C1Sbase; C0007 brother
Comment Both parents are heterozygous carrier of the same mutation.
Comment Two brothers have the same mutation but have not shown any
Comment clinical symptoms of SLE.
//
ID Y204X(1b),Y204X(1b); standard; MUTATION; CUB2,CUB2
Accession C0007
Systematic name Allele 1 and 2: g.5447C>G, c.612C>G, r.612c>g, p.Tyr204X
Original code IV-2
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the CUB2 domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18062908
RefAuthors Amano, M. T., Ferriani, V. P., Florido, M. P., Reis, E.
RefAuthors S., Delcolli, M. I., Azzolini, A. E., Assis-Pandochi, A.
RefAuthors I., Sjoholm, A. G., Farah, C. S., Jensenius, J. C., Isaac,
RefAuthors L.
RefTitle Genetic analysis of complement C1s deficiency associated
RefTitle with systemic lupus erythematosus highlights alternative
RefTitle splicing of normal C1s gene.
RefLoc Mol Immunol:1693-1702 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 5447
Feature /change: c -> g
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001734; GI:4502495; : 814
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 204
Feature /change: Y -> X
Feature /domain: CUB2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 5447
Feature /change: c -> g
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_001734; GI:4502495; : 814
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 204
Feature /change: Y -> X
Feature /domain: CUB2
Age 13
Sex XY
Ethnic origin Brazil
Parents Consanguineous
Symptoms Arthritis, Photo-sensibility
Symptoms Positive ANA and anti-Sm antibody
Relative C1Sbase; C0006 sister
Comment Both parents are heterozygous carrier of the same mutation.
Comment Two brothers have the same mutation but have not shown any
Comment clinical symptoms of SLE.
//
ID #F378X409(1),#F378X409(1); standard; MUTATION; SUSHI2,SUSHI2
Accession C0001
Systematic name Allele 1 and 2: g.7961_7964delTTTG, c.1334_1337delTTTG, p.F378fsX409
Description Allele 1 and 2: deletion in the exon 10 leading to a
Description premature stop codon in the SUSHI2 domain
Date 17-Jul-2002 (Rel. 1, Created)
Date 17-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856483
RefAuthors Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M.,
RefAuthors Sakiyama, H.
RefTitle Selective complement C1s deficiency caused by homozygous
RefTitle four-base deletion in the C1s gene.
RefLoc Hum Genet 103:415-418 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0009: 7961..7964
Feature /change: -tttg
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0009: 1334..1337
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 378..379
Feature /change: FG -> VLSSATLVRS HITTWKMEEV GSITVLVTGA GX
Feature /domain: SUSHI2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0009: 7961..7964
Feature /change: -tttg
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0009: 1334..1337
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 378..379
Feature /change: FG -> VLSSATLVRS HITTWKMEEV GSITVLVTGA GX
Feature /domain: SUSHI2
Symptoms Rheumatic diseases
Symptoms Symptoms of systemic lupus erythematosus (SLE)
Symptoms Other clinical features: Chronic glomerulonephritis
//
ID #F378X409(2),E597X(1); standard; MUTATION; SUSHI2,SP
Accession C0002
Systematic name Allele 1: g.7961_7964delTTTG, c.1334_1337delTTTG, p.F378fsX409
Systematic name Allele 2: g.10626G>T, c.1991G>T, p.E597X
Description Allele 1: deletion in the exon 10 leading to a premature
Description stop codon in the SUSHI2 domain
Description Allele 2: point mutation in the exon 12 leading to a
Description premature stop codon in the SP domain
Date 17-Jul-2002 (Rel. 1, Created)
Date 17-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9973493
RefAuthors Endo, Y., Kanno, K., Takahashi, M., Yamaguchi, K., Kohno,
RefAuthors Y., Fujita, T.
RefTitle Molecular basis of human complement C1s deficiency.
RefLoc J Immunol 162:2180-2183 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0009: 7961..7964
Feature /change: -tttg
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0009: 1334..1337
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 378..379
Feature /change: FG -> VLSSATLVRS HITTWKMEEV GSITVLVTGA GX
Feature /domain: SUSHI2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0009: 10626
Feature /change: g -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0009: 1991
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 597
Feature /change: E -> X
Feature /domain: SP
Sex XY
Ethnic origin Mongoloid
Symptoms Other clinical features: Virus-associated patient with
Symptoms hemophagocytic syndrome (VAHS) was admitted to hospital
Symptoms because of a fever of unknown origin. A month after the
Symptoms admission he had a convulsive fit and lost consciousness.
Symptoms Without recovering consciousness for 6 months he died.
//
ID R523X(1),R523X(1); standard; MUTATION; SP,SP
Accession C0003
Systematic name Allele 1 and 2: g.10404C>T, c.1769C>T, p.R523X
Description Allele 1 and 2: point mutation in the exon 12 leading to a
Description premature stop codon in the SP domain
Date 17-Jul-2002 (Rel. 1, Created)
Date 17-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11390518
RefAuthors Dragon-Durey, M. A., Quartier, P., Fremeaux-Bacchi, V.,
RefAuthors Blouin, J., de Barace, C., Prieur, A. M., Weiss, L.,
RefAuthors Fridman, W. H.
RefTitle Molecular basis of a selective C1s deficiency associated
RefTitle with early onset multiple autoimmune diseases.
RefLoc J Immunol 166:7612-7616 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0009: 10404
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0009: 1769
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 523
Feature /change: R -> X
Feature /domain: SP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0009: 10404
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0009: 1769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 523
Feature /change: R -> X
Feature /domain: SP
Sex XX
Ethnic origin Caucasoid
Symptoms Other clinical features: an episode of bilateral malar
Symptoms the age of 12 months she had rash after sun exposure.
Symptoms rash after sun exposure.
//
ID E597X(1a),G630E(1a); standard; MUTATION; SP,SP
Accession C0004
Systematic name Allele 1: g.10626G>T, c.1789G>T, r.1789g>u, p.Glu597X
Systematic name Allele 2: g.10726G>A, c.1889G>A, r.1889g>a, p.Gly630Glu
Original code III-1
Description Allele 1: A point mutation in the exon 12 leading to
Description a premature stop codon in the SP domain
Description Allele 2: A point mutation in the exon 12 leading to
Description an amino acid change in the SP domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19155518
RefAuthors Abe, K., Endo, Y., Nakazawa, N., Kanno, K., Okubo, M.,
RefAuthors Hoshino, T., Fujita, T.
RefTitle Unique phenotypes of C1s deficiency and abnormality caused
RefTitle by two compound heterozygosities in a japanese family.
RefLoc J Immunol:1681-1688 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 10626
Feature /change: g -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001734; GI:4502495; : 1991
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 597
Feature /change: E -> X
Feature /domain: SP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 10726
Feature /change: g -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001734; GI:4502495; : 2091
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_001725: 630
Feature /change: G -> E
Feature /domain: SP
Age 13
Sex XX
Ethnic origin Japan
Symptoms Fever: Periodic
Symptoms Other clinical features: sacroiliac arthritis, gluteal
Symptoms pain, hypersensitivity for antibiotics
Relative C1Sbase; C005 brother
//
ID E597X(1b),G630E(1b); standard; MUTATION; SP,SP
Accession C0005
Systematic name Allele 1: g.10626G>T, c.1789G>T, r.1789g>u, p.Glu597X
Systematic name Allele 2: g.10726G>A, c.1889G>A, r.1889g>a, p.Gly630Glu
Original code III-2
Description Allele 1: A point mutation in the exon 12 leading to
Description a premature stop codon in the SP domain
Description Allele 2: A point mutation in the exon 12 leading to
Description an amino acid change in the SP domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19155518
RefAuthors Abe, K., Endo, Y., Nakazawa, N., Kanno, K., Okubo, M.,
RefAuthors Hoshino, T., Fujita, T.
RefTitle Unique phenotypes of C1s deficiency and abnormality caused
RefTitle by two compound heterozygosities in a japanese family.
RefLoc J Immunol:1681-1688 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 10626
Feature /change: g -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001734; GI:4502495; : 1991
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001725: 597
Feature /change: E -> X
Feature /domain: SP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: C1S_DNA: 10726
Feature /change: g -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001734; GI:4502495; : 2091
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_001725: 630
Feature /change: G -> E
Feature /domain: SP
Age 11
Sex XY
Ethnic origin Japan
Relative C1Sbase; C004 sister
//
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