Database C3base
Version 1.1
File c3pub.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/C3base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF61.html
Gene C3
Disease C3 Deficiency
OMIM 120700
GDB 119044
Sequence IDRefSeq:D0106; IDRefSeq:C0106; GenBank:NP_000055
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID D549N(1),?; standard; MUTATION;
Accession C0008
Systematic name Allele 1: g.10970G>A, c.1645G>A, r.1645g>a,
Systematic name p.Asp549Asn
Original code AGI
Description Allele 1: a point mutation in the exon 13 leading to
Description an amino acid change
Date 22-Jun-2006 (Rel. 1, Created)
Date 22-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8938101
RefAuthors Singer, L., Van Hee, M. L., Lokki, M. L., Kramer, J.,
RefAuthors Borzy, M. S., Wetsel, R. A.
RefTitle Inherited complement C3 deficiency: reduced C3 mRNA and
RefTitle protein levels in a laotian kindred.
RefLoc Clin Immunol Immunopathol 81:244-252 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 10970
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0106: 1705
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000055: 549
Feature /change: D -> N
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
Ethnic origin New Zealander
//
ID S550P(1),S550P(1); standard; MUTATION;
Accession C0014
Systematic name Allele 1 and 2: g.10973T>C, c.1648T>C, r.1648u>c,
Systematic name p.Ser550Pro
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18802120
RefAuthors Ghannam, A., Pernollet, M., Fauquert, J. L., Monnier, N.,
RefAuthors Ponard, D., Villiers, M. B., Peguet-Navarro, J., Tridon,
RefAuthors A., Lunardi, J., Gerlier, D., Drouet, C.
RefTitle Human C3 deficiency associated with impairments in
RefTitle dendritic cell differentiation, memory B cells, and
RefTitle regulatory T cells.
RefLoc J Immunol:5158-5166 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 10973
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0106; GI:4557385; C3C: 1708
Feature /codon: tcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000055: 550
Feature /change: S -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 10973
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0106; GI:4557385; C3C: 1708
Feature /codon: tcc -> ccc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_000055: 550
Feature /change: S -> P
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Otitis
Symptoms Other clinical features: Recurrent pyogenic infections;
Symptoms Pneumopathy; Pyoethmoidis;
Sex XY
Comment Patient's twin brother died of fulminant meningitis in the
Comment first week of life.
//
ID W552X(1),W552X(1); standard; MUTATION;
Accession C0007
Systematic name Allele 1 and 2: g.10981G>A, c.1656G>A, r.1656g>a, p.Trp552X
Original code CA
Description Allele 1 and 2: a point mutation in the exon 13 leading to
Description a premature stop codon
Date 21-Jun-2006 (Rel. 1, Created)
Date 21-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12462331
RefAuthors Da Silva Reis, E., Baracho, G. V., Sousa Lima, A., Farah,
RefAuthors C. S., Isaac, L.
RefTitle Homozygous hereditary C3 deficiency due to a premature
RefTitle stop codon.
RefLoc J Clin Immunol 22:321-330 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 10981
Feature /change: g -> a
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 1716
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 552
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 10981
Feature /change: g -> a
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 1716
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 552
Feature /change: W -> X
Symptoms General
Symptoms Fever
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Otitis
Symptoms Other clinical features: osteomyelitis, bronchopneumonia,
Symptoms pyodermitis, urinary tract infection, arthritis
Sex XY
Ethnic origin Brazil
Parents Consanguineous
//
ID R592Q(1),=; standard; MUTATION;
Accession C0013
Systematic name Allele 1: g.11896G>A, c.1775G>A, r.1775g>a,
Systematic name p.Arg592Gln
Description Allele 1: A point mutation in the exon 14 leading to
Description an amino acid change
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19590060
RefAuthors Lhotta, K., Janecke, A. R., Scheiring, J., Petzlberger,
RefAuthors B., Giner, T., Fally, V., Wurzner, R., Zimmerhackl, L. B.,
RefAuthors Mayer, G., Fremeaux-Bacchi, V.
RefTitle A large family with a gain-of-function mutation of
RefTitle complement C3 predisposing to atypical hemolytic uremic
RefTitle syndrome, microhematuria, hypertension and chronic renal
RefTitle failure.
RefLoc Clin J Am Soc Nephrol:1356-1362 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 11896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0106; GI:4557385; C3C: 1835
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_000055: 592
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms General
Symptoms Fever: High
Symptoms Thrombocytopenia
Symptoms Pyelonephritis
Symptoms Cholecystitis
Symptoms Autoimmune manifestations
Symptoms Autoimmune hemolytic anemia
Sex 22
//
ID #S765X771(1),#S765X771(1); standard; MUTATION;
Accession C0003
Systematic name Allele 1 and 2: g.19119_19179del, c.2354_2414del, p.S765fsX771
Description Allele 1 and 2: deletion in the exon 18 leading to a
Description premature stop codon
Date 03-Jul-2002 (Rel. 1, Created)
Date 03-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 2212005
RefAuthors Botto, M., Fong, K. Y., So, A. K., Rudge, A., Walport, M. J.
RefTitle Molecular basis of hereditary C3 deficiency.
RefLoc J Clin Invest 86:1158-1163 (1990)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0106: 19119..19179
Feature /change: -gtgagttccc agagagctgg ctgtggaacg ttgaggactt
Feature /change: gaaagagcca ccgaaaaatg g
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0106: 2354..2414
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 765..785
Feature /change: SEFPESWLWN VEDLKEPPKN G -> KSLRSSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0106: 19119..19179
Feature /change: -gtgagttccc agagagctgg ctgtggaacg ttgaggactt
Feature /change: gaaagagcca ccgaaaaatg g
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0106: 2354..2414
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 765..785
Feature /change: SEFPESWLWN VEDLKEPPKN G -> KSLRSSX
Sex XY
Symptoms Other clinical features: Recurrent attacks of otitis media
Symptoms before the age of three. In addition, patient had
Symptoms frequent pyogenic infecions of the upper respiratory tract
Symptoms during early childhood. Between 5 and 8 years of age
Symptoms patient had more than 20 episodes of rash on face,
Symptoms forearms and hands.
Comments The patient's parents are consanguineous and have a common
Comments greatgrandparent.
//
ID R848X(1),R848X(1); standard; MUTATION;
Accession C0009
Systematic name Allele 1 and 2: g.23958C>T, c.2542C>T, r.2542c>u, p.Arg848X
Original code L.A.S.
Description Allele 1 and 2: a point mutation in the exon 20 leading to
Description a premature stop codon
Date 22-Jun-2006 (Rel. 1, Created)
Date 22-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14639503
RefAuthors Reis, E. S., Nudelman, V., Isaac, L.
RefTitle Nonsense-codon-mediated decay in human hereditary
RefTitle complement C3 deficiency.
RefLoc Immunogenetics 55:667-673 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 23958
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 2602
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 848
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 23958
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 20
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 2602
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 848
Feature /change: R -> X
Symptoms Rheumatic diseases
Symptoms Vasculitis
Sex XY
Ethnic origin Brazilian
Parents Consanguineous
Comment silent mutations at codons P577, S978 and A1437
//
ID #P933X939(1),#P933X939(1); standard; MUTATION;
Accession C0004
Systematic name Allele 1 and 2: g.?, c.2857_3010del, p.P933fsX939
Description Allele 1 and 2: deletion in the exon 22,23 leading to a
Description premature stop codon
Date 05-Jul-2002 (Rel. 1, Created)
Date 18-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1350678
RefAuthors Botto, M., Fong, K. Y., So, A. K., Barlow, R., Routier,
RefAuthors R., Morley, B. J., Walport, M. J.
RefTitle Homozygous hereditary C3 deficiency due to a partial gene
RefTitle deletion.
RefLoc Proc Natl Acad Sci U S A 89:4957-4961 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0106: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0106: 2857..3010
Feature /change: -ccggaaggaa tcagaatgaa caaaactgtg gctgttcgca
Feature /change: ccctggatcc agaacgcctg ggccgtgaag gagtgcagaa
Feature /change: agaggacatc ccacctgcag acctcagtga ccaagtcccg
Feature /change: gacaccgagt ctgagaccag aattctcctg caag
Feature /genomic_region: exon; 22, 23
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 933..984
Feature /change: PEGIRMNKTV AVRTLDPERL GREGVQKEDI PPADLSDQVP
Feature /change: DTESETRILL QG
Feature /change: -> GPQWPRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0106: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0106: 2857..3010
Feature /change: -ccggaaggaa tcagaatgaa caaaactgtg gctgttcgca
Feature /change: ccctggatcc agaacgcctg ggccgtgaag gagtgcagaa
Feature /change: agaggacatc ccacctgcag acctcagtga ccaagtcccg
Feature /change: gacaccgagt ctgagaccag aattctcctg caag
Feature /genomic_region: exon; 22,23
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 933..984
Feature /change: PEGIRMNKTV AVRTLDPERL GREGVQKEDI PPADLSDQVP
Feature /change: DTESETRILL QG
Feature /change: -> GPQWPRX
Sex XX
Ethnic origin Caucasoid
Relative Description of pedigree:Patient's parents and paternal
Relative grandparents were first cousins
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Pneumonia
Symptoms Other clinical features: Patient developed two episodes of
Symptoms meningococcal meningitis at 5 and 6 years of age. She
Symptoms suffered from episodes of pneumonia an average of two or
Symptoms three times per year when aged 8 - 16 years and was
Symptoms admitted to hospital. These infections were followed by a
Symptoms rash described as erythema gyratum perstans and Sweet
Symptoms syndrome. 1985-1992 (article published 1992) she had been
Symptoms entirely well. She has given birth to three normal
Symptoms children.
Comments Mutant allele showed the deletion of exons 22 and 23, and
Comments the structure of the intron between exons 21 and 24 was a
Comments hybrid between the normal intron 21 and 23 sequence. The
Comments change from intron 21 to 23 occurred within the two Alu
Comments sequences.
//
ID @L1039X1105(1),Y1081X(2); standard; MUTATION;
Accession C0011
Systematic name Allele 1: g.27182_27183insT, c.3116_3117insT,
Systematic name r.3116_3117insu, p.Glu1040fsX66
Systematic name Allele 2: g.28580C>G, c.3243C>G, r.3243c>g, p.Tyr1081X
Original code II
Description Allele 1: A frame shift insertion mutation in the exon 24
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 26 leading to a
Description premature stop codon
Date 22-Apr-2008 (Rel. 1, Created)
Date 22-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18201916
RefAuthors Kida, M., Fujioka, H., Kosaka, Y., Hayashi, K., Sakiyama,
RefAuthors Y., Ariga, T.
RefTitle The first confirmed case with C3 deficiency caused by
RefTitle compound heterozygous mutations in the C3 gene; a new
RefTitle aspect of pathogenesis for C3 deficiency.
RefLoc Blood Cells Mol Dis:410-413 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0106: 27183
Feature /change: +t
Feature /genomic_region: exon; 24
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0106; GI:4557385; C3C: 3177
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1039
Feature /change: L ->
Feature /change: LREAAGGLGA HQEGVHPAAG LQTTQLCLCG LRETGTQHLA
Feature /change: DRLRGQGLLS GCQPHRHRLP SPLRGCX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 28580
Feature /change: c -> g
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106; GI:4557385; C3C: 3303
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1081
Feature /change: Y -> X
Symptoms General
Symptoms Increased susceptibility to infectious diseases
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Pneumonia
Sex XY
Ethnic origin Caucasoid; Japan
Relative
Parents
Comment Insertion mutation inherited from father and point mutation
Comment from mother.
//
ID @F1059X1105(1),Y1081X(3); standard; MUTATION;
Accession C0012
Systematic name Allele 1: g.28185_28186insT, c.3176_3177insT,
Systematic name r.3176_3177insu, p.Arg1060fsX46
Systematic name Allele 2: g.28580C>G, c.3243C>G, r.3243c>g, p.Tyr1081X
Description Allele 1: A frame shift insertion mutation in the exon 25
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 26 leading to a
Description premature stop codon
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18201916
RefAuthors Kida, M., Fujioka, H., Kosaka, Y., Hayashi, K., Sakiyama,
RefAuthors Y., Ariga, T.
RefTitle The first confirmed case with C3 deficiency caused by
RefTitle compound heterozygous mutations in the C3 gene; a new
RefTitle aspect of pathogenesis for C3 deficiency.
RefLoc Blood Cells Mol Dis:410-413 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0106: 28186
Feature /change: +t
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0106; GI:4557385; C3C: 3237
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1059
Feature /change: F ->
Feature /change: FQTTQLCLCG LRETGTQHLA DRLRGQGLLS GCQPHRHRLP
Feature /change: SPLRGCX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 28580
Feature /change: c -> g
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106; GI:4557385; C3C: 3303
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1081
Feature /change: Y -> X
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Pneumonia
Symptoms Bronchitis
Sex XY
Ethnic origin Japan
Parents Non-consanguineous
//
ID Y1081X(1a),Y1081X(1a); standard; MUTATION;
Accession C0001
Systematic name Allele 1 and 2: g.28580C>G, c.3303C>G, p.Y1081X
Description Allele 1 and 2: point mutation in the exon 26 leading to a
Description premature stop codon
Date 21-May-2002 (Rel. 1, Created)
Date 21-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11813855
RefAuthors Matsuyama W, Nakagawa M, Takashima H, Muranaga F,
RefAuthors Sano Y, Osame M
RefTitle Molecular analysis of hereditary deficiency of the third
RefTitle component of complement (C3) in two sisters
RefLoc Intern Med 40:1254-8 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 28580
Feature /change: c -> g
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 3303
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1081
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 28580
Feature /change: c -> g
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 3303
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1081
Feature /change: Y -> X
Sex XX
Ethnic origin Mongoloid
Relative Description of pedigree:Patient has a sister (C0002) with
Relative same hereditary deficiency of C3. Patient's mother and
Relative brother had approximately half of normal C3 level both
Relative showing a heterozyhous mutation in the same codon.
Relative C3base; C0002 sister
Symptoms General
Symptoms Sensitivity to sunlight
Symptoms Fever
Symptoms Rheumatic diseases
Symptoms Symptoms of systemic lupus erythematosus (SLE)
Symptoms Other clinical features: Butterfly rash, Raynaud
Symptoms phenomenon, intermittent arthralgia
//
ID Y1081X(1b),Y1081X(1b); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.28580C>G, c.3303C>G, p.Y1081X
Description Allele 1 and 2: point mutation in the exon 26 leading to a
Description premature stop codon
Date 21-May-2002 (Rel. 1, Created)
Date 21-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11813855
RefAuthors Matsuyama W, Nakagawa M, Takashima H, Muranaga F,
RefAuthors Sano Y, Osame M
RefTitle Molecular analysis of hereditary deficiency of the third
RefTitle component of complement (C3) in two sisters
RefLoc Intern Med 40:1254-8 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 28580
Feature /change: c -> g
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 3303
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1081
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 28580
Feature /change: c -> g
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0106: 3303
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 1081
Feature /change: Y -> X
Sex XX
Ethnic origin Mongoloid
Relative Description of pedigree:Patient has a sister (C0001) with
Relative same hereditary deficiency of C3. Patient's mother and
Relative brother had approximately half of normal C3 level both
Relative showing a heterozyhous mutation in the same codon.
Relative C3base; C0001 sister
Symptoms General
Symptoms Sensitivity to sunlight
Symptoms Fever
Symptoms Rheumatic diseases
Symptoms Symptoms of systemic lupus erythematosus (SLE)
Symptoms Other clinical features: Butterfly rash, Raynaud
Symptoms phenomenon, intermittent arthralgia
//
ID Intron 10(1),Intron 10(1); standard; MUTATION;
Accession C0006
Systematic name Allele 1 and 2: g.IVS10+1G>T, c.G>T, r.g>u,
Description Allele 1 and 2: a point mutation in the intron 10 leading
Description to aberrant splicing
Date 21-Jun-2006 (Rel. 1, Created)
Date 21-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7923934
RefAuthors Huang, J. L., Lin, C. Y.
RefTitle A hereditary C3 deficiency due to aberrant splicing of
RefTitle exon 10.
RefLoc Clin Immunol Immunopathol 73:267-273 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0106: 9143
Feature /change: g -> t
Feature /genomic_region: intron; 10
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0106: 9143
Feature /change: g -> t
Feature /genomic_region: intron; 10
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0106: 1064..1179
Feature /change: -gcagtgacat ggtgcaggca gagcgcagcg ggatccccat
Feature /change: cgtgacctct ccctaccaga tccacttcac caagacaccc
Feature /change: aagtacttca aaccaggaat gccctttgac ctcatg
Feature /note: skipping of exon 10
Feature /inexloc: +1
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0106: 1146..1179
Feature /change: -gtacttcaaa ccaggaatgc cctttgacct catg
Feature /inexloc: +1
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 335..373
Feature /change: GSDMVQAERS GIPIVTSPYQ IHFTKTPKYF KPGMPFDLM ->
Feature /change: GVRDEPX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 362..373
Feature /change: KYFKPGMPFD LM -> KCSX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0106: 9143
Feature /change: g -> t
Feature /genomic_region: intron; 10
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0106: 9143
Feature /change: g -> t
Feature /genomic_region: intron; 10
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0106: 1064..1179
Feature /change: -gcagtgacat ggtgcaggca gagcgcagcg ggatccccat
Feature /change: cgtgacctct ccctaccaga tccacttcac caagacaccc
Feature /change: aagtacttca aaccaggaat gccctttgac ctcatg
Feature /note: skipping of exon 10
Feature /inexloc: +1
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0106: 1146..1179
Feature /inexloc: +1
Feature aa; 11
Feature /rnalink: 9
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 335..373
Feature /change: GSDMVQAERS GIPIVTSPYQ IHFTKTPKYF KPGMPFDLM ->
Feature /change: GVRDEPX
Feature aa; 12
Feature /rnalink: 10
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000055: 362..373
Feature /change: KYFKPGMPFD LM -> KCSX
Symptoms Bacterial infections
Symptoms Pneumonia
Symptoms Otitis
Symptoms Other clinical features: septic arthritis, skin infection
Ethnic origin Atayal tribe aborigine, Taiwan
//
ID Intron 39(1),Intron 39(1); standard; MUTATION;
Accession C0010
Systematic name Allele 1 and 2: g.IVS39-2A>G, c.A>G, r.a>g,
Description Allele 1 and 2: a point mutation in the intron 39 leading
Description to aberrant splicing
Date 22-Jun-2006 (Rel. 1, Created)
Date 22-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15781264
RefAuthors Tsukamoto, H., Horiuchi, T., Kokuba, H., Nagae, S.,
RefAuthors Nishizaka, H., Sawabe, T., Harashima, S., Himeji, D.,
RefAuthors Koyama, T., Otsuka, J., Mitoma, H., Kimoto, Y., Hashimura,
RefAuthors C., Kitano, E., Kitamura, H., Furue, M., Harada, M.
RefTitle Molecular analysis of a novel hereditary C3 deficiency
RefTitle with systemic lupus erythematosus.
RefLoc Biochem Biophys Res Commun 330:298-304 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0106: 43362
Feature /change: a -> g
Feature /genomic_region: intron; 39
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0106: 4691..4774
Feature /change: -tgtacaagac ccgactggtc aaggttcagc tgtccaatga
Feature /change: ctttgacgag tacatcatgg ccattgagca gaccatcaag tcag
Feature /note: skipping of exon 39
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: inframe deletion
Feature /loc: GenBank: NP_000055: 4691..4774
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0106: 43362
Feature /change: a -> g
Feature /genomic_region: intron; 39
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0106: 4691..4774
Feature /change: -tgtacaagac ccgactggtc aaggttcagc tgtccaatga
Feature /change: ctttgacgag tacatcatgg ccattgagca gaccatcaag tcag
Feature /note: skipping of exon 39
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: inframe deletion
Feature /loc: GenBank: NP_000055: 4691..4774
Symptoms Rheumatic diseases
Symptoms Symptoms of systemic lupus erythematosus (SLE)
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
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