Database C5base
Version 1.0
File c5pub.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/C5base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF91.html
Gene C5
Disease C5 Deficiency
OMIM 120900
GDB 119734
Sequence IDRefSeq:D0107; IDRefSeq:C0107; GenBank:NP_001726;
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Q19X(1),?; standard; MUTATION;
Accession C0001
Systematic name Allele 1: g.1067C>T, c.67C>T, p.Q19X
Original code III-9 (Rhode Island)
Description Allele 1: point mutation in the exon 1 leading to a
Description premature stop codon
Description Allele 2: Not identified
Date 29-May-2002 (Rel. 1, Created)
Date 29-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7730648
RefAuthors Wang, X., Fleischer, D. T., Whitehead, W. T., Haviland, D.
RefAuthors L., Rosenfeld, S. I., Leddy, J. P., Snyderman, R., Wetsel,
RefAuthors R. A.
RefTitle Inherited human complement C5 deficiency. Nonsense
RefTitle mutations in exons 1 (gln1 to stop) and 36 (arg1458 to
RefTitle stop) and compound heterozygosity in three african-
RefTitle american families.
RefLoc J Immunol 154:5464-5471 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0107: 1067
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107: 67
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 19
Feature /change: Q -> X
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 XX
Relative Description of pedigree:Patient (III-9) has three brothers
Relative and one sister. All three brothers have C5D (no serum C5
Relative detected) and sister has half normal serum C5 level.
//
ID Q19X(2),?; standard; MUTATION;
Accession C0002
Systematic name Allele 1: g.1067C>T, c.67C>T, p.Q19X
Original code III-4 (North Carolina)
Description Allele 1: point mutation in the exon 1 leading to a
Description premature stop codon
Description Allele 2: Not identified
Date 29-May-2002 (Rel. 1, Created)
Date 29-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7730648
RefAuthors Wang, X., Fleischer, D. T., Whitehead, W. T., Haviland, D.
RefAuthors L., Rosenfeld, S. I., Leddy, J. P., Snyderman, R., Wetsel,
RefAuthors R. A.
RefTitle Inherited human complement C5 deficiency. Nonsense
RefTitle mutations in exons 1 (gln1 to stop) and 36 (arg1458 to
RefTitle stop) and compound heterozygosity in three african-
RefTitle american families.
RefLoc J Immunol 154:5464-5471 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0107: 1067
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107: 67
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 19
Feature /change: Q -> X
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 XX
Relative Description of pedigree:Patient's (III-4) twin sister is
Relative also C5D (no serum C5 detected). Patient has also two
Relative other sisters, younger having normal serum C5 and older
Relative half normal serum C5. Patient's mother and brother have
Relative half normal serum C5 level.
//
ID Q298X(1a),Q298X(1a); standard; MUTATION;
Accession C0007
Systematic name Allele 1 and 2: g.25679C>T, c.892C>T, r.892c>u, p.Gln298X
Original code BP.1
Description Allele 1 and 2: A point mutation in the exon 9 leading to a
Description premature stop codon
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19414197
RefAuthors Lopez-Lera, A., Garrido, S., de la Cruz, R. M., Fontan,
RefAuthors G., Lopez-Trascasa, M.
RefTitle Molecular characterization of three new mutations causing
RefTitle C5 deficiency in two non-related families.
RefLoc Mol Immunol:2340-2347 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0107: 25679
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107; GI:4502507; C5C: 904
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 298
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0107: 25679
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107; GI:4502507; C5C: 904
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 298
Feature /change: Q -> X
Symptoms Bacterial infections
Symptoms Meningitis
Sex XY
Ethnic origin Italy
Relative C5base; C0008 sister
Parents Consanguineous
Comment Patient's parents were deceased.
//
ID Q298X(1b),Q298X(1b); standard; MUTATION;
Accession C0008
Systematic name Allele 1 and 2: g.25679C>T, c.892C>T, r.892c>u, p.Gln298X
Original code BP.2
Description Allele 1 and 2: A point mutation in the exon 9 leading to a
Description premature stop codon
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19414197
RefAuthors Lopez-Lera, A., Garrido, S., de la Cruz, R. M., Fontan,
RefAuthors G., Lopez-Trascasa, M.
RefTitle Molecular characterization of three new mutations causing
RefTitle C5 deficiency in two non-related families.
RefLoc Mol Immunol:2340-2347 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0107: 25679
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107; GI:4502507; C5C: 904
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 298
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0107: 25679
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107; GI:4502507; C5C: 904
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 298
Feature /change: Q -> X
Symptoms Bacterial infections
Symptoms Meningitis
Sex XX
Ethnic origin Italy
Relative C5base; C0007 brother
Parents Consanguineous
Comment Patient's parents were deceased.
//
ID K372R(1),K372R(1); standard; MUTATION;
Accession C0005
Systematic name Allele 1 and 2: g.27854A>G, c.1115A>G, r.1115a>g,
Systematic name p.Lys372Arg
Original code 5-year-old boy
Description Allele 1 and 2: a point mutation in the exon 10 leading to
Description aberrant splicing
Date 22-Jun-2006 (Rel. 1, Created)
Date 22-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15778377
RefAuthors Pfarr, N., Prawitt, D., Kirschfink, M., Schroff, C., Knuf,
RefAuthors M., Habermehl, P., Mannhardt, W., Zepp, F., Fairbrother,
RefAuthors W., Loos, M., Burge, C. B., Pohlenz, J.
RefTitle Linking C5 deficiency to an exonic splicing enhancer
RefTitle mutation.
RefLoc J Immunol 174:4172-4177 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0107: 27854
Feature /change: a -> g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0107: 1013..1128
Feature /change: -gtggattttc tgaagaggca gaaatacctg gcatcaaata
Feature /change: tgtcctctct ccctacaaac tgaatttggt tgctactcct
Feature /change: cttttcctga agcctgggat tccatatccc atcaag
Feature /note: skipping of exon 10
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 334..372
Feature /change: GGFSEEAEIP GIKYVLSPYK LNLVATPLFL KPGIPYPIK ->
Feature /change: GAGX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0107: 27854
Feature /change: a -> g
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0107: 1013..1128
Feature /change: -gtggattttc tgaagaggca gaaatacctg gcatcaaata
Feature /change: tgtcctctct ccctacaaac tgaatttggt tgctactcct
Feature /change: cttttcctga agcctgggat tccatatccc atcaag
Feature /note: skipping of exon 10
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 334..372
Feature /change: GGFSEEAEIP GIKYVLSPYK LNLVATPLFL KPGIPYPIK ->
Feature /change: GAGX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID @E628X649(1),Y846H(1); standard; MUTATION;
Accession C0006
Systematic name Allele 1: g.33896_33897delinsCTCT, c.1883_1884delinsCTCT,
Systematic name r.1883_1884delinscucu, p.Glu628fsX22
Systematic name Allele 2: g.45296T>C, c.2536T>C, r.2536u>c, p.Tyr846His
Original code AP.1
Description Allele 1: A frame shift indel mutation in the exon 14
Description leading to a premature stop codon and loss of exon 15
Description Allele 2: A point mutation in the exon 20 leading to an
Description amino acid change
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19414197
RefAuthors Lopez-Lera, A., Garrido, S., de la Cruz, R. M., Fontan,
RefAuthors G., Lopez-Trascasa, M.
RefTitle Molecular characterization of three new mutations causing
RefTitle C5 deficiency in two non-related families.
RefLoc Mol Immunol:2340-2347 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0107: 33896..33897
Feature /change: ag -> ctct
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0107; GI:4502507; C5C: 1895..1896
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 628
Feature /change: E -> ALRVIWAVGQ VVASTMPMCS TX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0107: 45296
Feature /change: t -> c
Feature /genomic_region: exon; 20
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0107; GI:4502507; C5C: 2548
Feature /codon: tac -> cac; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: GenBank: NP_001726: 846
Feature /change: Y -> H
Symptoms Repitive meningococcal infections
Sex XY
Parents Non-consanguineous
Comment Patient's father carried the indel AG>CTCT mutation
Comment in heterozygous condition
//
ID R1476X(1),?; standard; MUTATION;
Accession C0003
Systematic name Allele 1: g.88510C>T, c.4438C>T, p.R1476X
Original code III-11 (New York)
Description Allele 1: point mutation in the exon 36 leading to a
Description premature stop codon
Description Allele 2: Not identified
Date 29-May-2002 (Rel. 1, Created)
Date 29-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7730648
RefAuthors Wang, X., Fleischer, D. T., Whitehead, W. T., Haviland, D.
RefAuthors L., Rosenfeld, S. I., Leddy, J. P., Snyderman, R., Wetsel,
RefAuthors R. A.
RefTitle Inherited human complement C5 deficiency. Nonsense
RefTitle mutations in exons 1 (gln1 to stop) and 36 (arg1458 to
RefTitle stop) and compound heterozygosity in three african-
RefTitle american families.
RefLoc J Immunol 154:5464-5471 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0107: 88510
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 36
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107: 4438
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 1476
Feature /change: R -> X
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 XX
Relative Description of pedigree:Patient's (III-11) sister has half
Relative normal serum C5 level whereas her brother has normal C5
Relative serum level. Patient's mother and two step-brothers have
Relative also half normal C5 serum level. Patient's step-sister has
Relative C5D.
Relative C5base; C0004; step-sister
//
ID R1476X(2),?; standard; MUTATION;
Accession C0004
Systematic name Allele 1: g.88510C>T, c.4438C>T, p.R1476X
Original code III-14 (New York)
Description Allele 1: point mutation in the exon 36 leading to a
Description premature stop codon
Description Allele 2: Not identified
Date 29-May-2002 (Rel. 1, Created)
Date 29-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7730648
RefAuthors Wang, X., Fleischer, D. T., Whitehead, W. T., Haviland, D.
RefAuthors L., Rosenfeld, S. I., Leddy, J. P., Snyderman, R., Wetsel,
RefAuthors R. A.
RefTitle Inherited human complement C5 deficiency. Nonsense
RefTitle mutations in exons 1 (gln1 to stop) and 36 (arg1458 to
RefTitle stop) and compound heterozygosity in three african-
RefTitle american families.
RefLoc J Immunol 154:5464-5471 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0107: 88510
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 36
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0107: 4438
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001726: 1476
Feature /change: R -> X
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 XX
Relative Description of pedigree:Patient's (III-14) mother and two
Relative brothers have half normal C5 serum level. Patient's
Relative step-sister has C5D.
Relative C5base; C0003; step-sister
//
//
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