Database C6base
Version 1.0
File c6pub.html
Date 19-Jun-2007
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/C6base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF92.html
Gene C6
Disease C6 Deficiency
OMIM 217050
GDB 119045
Sequence IDRefSeq:D0108; IDRefSeq:C0108; GenBank:NP_000056
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #P79X122(1),?; standard; MUTATION; TSP TYPE-1 1
Accession C0005
Systematic name Allele 1: g.18158delC, c.392delC, p.P79fsX122
Original code case 2
Description Allele 1: deletion in the exon 3 leading to a premature
Description stop codon in the TSP TYPE-1 1 domain
Description Allele 2: Not identified
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8690922
RefAuthors Nishizaka, H., Horiuchi, T., Zhu, Z. B., Fukumori, Y.,
RefAuthors Nagasawa, K., Hayashi, K., Krumdieck, R., Cobbs, C. G.,
RefAuthors Higuchi, M., Yasunaga, S.
RefTitle Molecular bases for inherited human complement component
RefTitle C6 deficiency in two unrelated individuals.
RefLoc J Immunol 156:2309-2315 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 18158
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 392
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 79
Feature /change: P
Feature /change: -> PSTASWEILD HGQTVTLVLK NSLKLDLSCV PVSLGDSHAL
Feature /change: SLWX
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 Mongoloid
Symptoms Other clinical features: This individual gave no history
Symptoms of systemic neisserial infections. He was found to be C6
Symptoms deficient during a large scale screening among healthy
Symptoms blood donors.
//
ID #Q274X319(1),#Q274X319(1); standard; MUTATION;
Accession C0010
Systematic name Allele 1 and 2: g.40140delG, c.977delG, p.Q274fsX319
Original code proband - family 1
Description Allele 1 and 2: deletion in the exon 7 leading to a
Description premature stop codon
Date 28-May-2002 (Rel. 1, Created)
Date 28-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856498
RefAuthors Hobart, M. J., Fernie, B. A., Fijen, K. A., Orren, A.
RefTitle The molecular basis of C6 deficiency in the western cape,
RefTitle south africa.
RefLoc Hum Genet 103:506-512 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 40140
Feature /change: -g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 977
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 274
Feature /change: Q
Feature /change: -> QGGALSVYQF FIPQREVKIS TIILPSNKPF KPLTKRILVL
Feature /change: LGSIKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 40140
Feature /change: -g
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 977
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 274
Feature /change: Q
Feature /change: -> QGGALSVYQF FIPQREVKIS TIILPSNKPF KPLTKRILVL
Feature /change: LGSIKX
Haplotype Allele 1:
Haplotype DdeI:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; BsrGI:A; RsaI:M; ?:A; DdeI:+; ApoI:A;
Haplotype Allele 2:
Haplotype DdeI:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; BsrGI:A; RsaI:M; ?:A; DdeI:+; ApoI:A;
Comments C6: DdeI; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); BsrGI; RsaI; ?; DdeI; ApoI
//
ID #Q274X319(3),#Q380X386(2); standard; MUTATION;
Accession C0012
Systematic name Allele 1: g.40140delG, c.977delG, p.Q274fsX319
Systematic name Allele 2: g.45142delC, c.1293delC, p.Q380fsX386
Original code proband - family 3
Description Allele 1: deletion in the exon 7 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 8 leading to a
Description premature stop codon
Date 28-May-2002 (Rel. 1, Created)
Date 28-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856498
RefAuthors Hobart, M. J., Fernie, B. A., Fijen, K. A., Orren, A.
RefTitle The molecular basis of C6 deficiency in the western cape,
RefTitle south africa.
RefLoc Hum Genet 103:506-512 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 40140
Feature /change: -g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 977
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 274
Feature /change: Q
Feature /change: -> QGGALSVYQF FIPQREVKIS TIILPSNKPF KPLTKRILVL
Feature /change: LGSIKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 45142
Feature /change: -c
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 1293
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 380
Feature /change: Q -> SLAVRNX
Haplotype Allele 1:
Haplotype DdeI:B; MspI:-; TaqI(beta):L; TaqI(225):H;
Haplotype TaqI(233):L; BsrGI:A; RsaI:M; ?:A; DdeI:+; ApoI:T;
Haplotype Allele 2:
Haplotype DdeI:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):H; BsrGI:A; RsaI:M; ?:C; DdeI:+; ApoI:A;
Comments C6: DdeI; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); BsrGI; RsaI; ?; DdeI; ApoI
//
ID #Q274X319(4),#Q380X386(3); standard; MUTATION;
Accession C0013
Systematic name Allele 1: g.40140delG, c.977delG, p.Q274fsX319
Systematic name Allele 2: g.45142delC, c.1293delC, p.Q380fsX386
Original code proband - family 4
Description Allele 1: deletion in the exon 7 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 8 leading to a
Description premature stop codon
Date 28-May-2002 (Rel. 1, Created)
Date 28-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856498
RefAuthors Hobart, M. J., Fernie, B. A., Fijen, K. A., Orren, A.
RefTitle The molecular basis of C6 deficiency in the western cape,
RefTitle south africa.
RefLoc Hum Genet 103:506-512 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 40140
Feature /change: -g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 977
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 274
Feature /change: Q
Feature /change: -> QGGALSVYQF FIPQREVKIS TIILPSNKPF KPLTKRILVL
Feature /change: LGSIKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 45142
Feature /change: -c
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 1293
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 380
Feature /change: Q -> SLAVRNX
Haplotype Allele 1:
Haplotype DdeI:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; BsrGI:A; RsaI:M; ?:A; DdeI:+; ApoI:A;
Haplotype Allele 2:
Haplotype DdeI:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):H; BsrGI:A; RsaI:M; ?:C; DdeI:+; ApoI:A;
Comments C6: DdeI; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); BsrGI; RsaI; ?; DdeI; ApoI
//
ID #Q274X319(2),#D627X630(3); standard; MUTATION;
Accession C0011
Systematic name Allele 1: g.40140delG, c.977delG, p.Q274fsX319
Systematic name Allele 2: g.62884delG, c.2034delG, p.D627fsX630
Original code proband - family 2
Description Allele 1: deletion in the exon 7 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 13 leading to a
Description premature stop codon
Date 28-May-2002 (Rel. 1, Created)
Date 28-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856498
RefAuthors Hobart, M. J., Fernie, B. A., Fijen, K. A., Orren, A.
RefTitle The molecular basis of C6 deficiency in the western cape,
RefTitle south africa.
RefLoc Hum Genet 103:506-512 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 40140
Feature /change: -g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 977
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 274
Feature /change: Q
Feature /change: -> QGGALSVYQF FIPQREVKIS TIILPSNKPF KPLTKRILVL
Feature /change: LGSIKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
Haplotype Allele 1:
Haplotype DdeI:B; MspI:-; TaqI(beta):L; TaqI(225):L;
Haplotype TaqI(233):L; BsrGI:A; RsaI:M; ?:A; DdeI:+; ApoI:T;
Haplotype Allele 2:
Haplotype DdeI:A; MspI:+; TaqI(beta):H; TaqI(225):H;
Haplotype TaqI(233):H; BsrGI:A; RsaI:M; ?:A; DdeI:-; ApoI:A;
Comments C6: DdeI; MspI; TaqI(beta)
Comments C7: TaqI(225); TaqI(233); BsrGI; RsaI; ?; DdeI; ApoI
//
ID #Q380X386(1a),#D627X630(2b); standard; MUTATION;
Accession C0007
Systematic name Allele 1: g.45142delC, c.1293delC, p.Q380fsX386
Systematic name Allele 2: g.62884delG, c.2034delG, p.D627fsX630
Original code II-1
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 13 leading to a
Description premature stop codon
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9472666
RefAuthors Zhu, Z. B., Totemchokchyakarn, K., Atkinson, T. P.,
RefAuthors Volanakis, J. E.
RefTitle Molecular defects leading to human complement component C6
RefTitle deficiency in an african-american family.
RefLoc Clin Exp Immunol 111:91-96 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 45142
Feature /change: -c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 1293
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 380
Feature /change: Q -> SLAVRNX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
Sex XY
Relative Description of pedigree:Patient's (II-1) father (I-1)
Relative and two younger siblings (II-2, II-3) also have C6D,
Relative but no history of meningitis, other neisserial
Relative infection or other serious infections.
Relative C6base; C0006 father
Relative C6base; C0008 brother
Relative C6base; C0009 brother
Symptoms General
Symptoms Headache
Symptoms Fever
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Other clinical features: Back pain, dizziness. Patient had
Symptoms a prior admission for meningitis 5 years earlier.
//
ID #Q380X386(1b),#D627X630(2c); standard; MUTATION;
Accession C0008
Systematic name Allele 1: g.45142delC, c.1293delC, p.Q380fsX386
Systematic name Allele 2: g.62884delG, c.2034delG, p.D627fsX630
Original code II-2
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 13 leading to a
Description premature stop codon
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9472666
RefAuthors Zhu, Z. B., Totemchokchyakarn, K., Atkinson, T. P.,
RefAuthors Volanakis, J. E.
RefTitle Molecular defects leading to human complement component C6
RefTitle deficiency in an african-american family.
RefLoc Clin Exp Immunol 111:91-96 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 45142
Feature /change: -c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 1293
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 380
Feature /change: Q -> SLAVRNX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
Sex XY
Relative Description of pedigree:Individual's (II-2) father (I-1)
Relative and younger brother (II-3) also have C6D, but no history
Relative of meningitis, other neisserial infection or other serious
Relative infections. However, individual's older brother (II-1) has
Relative a symptomatic history.
Relative C6base; C0006 father
Relative C6base; C0007 brother
Relative C6base; C0009 brother
Symptoms Other clinical features: No history of meningitis or other
Symptoms neisserial infection.
//
ID #Q380X386(1c),#D627X630(2d); standard; MUTATION;
Accession C0009
Systematic name Allele 1: g.45142delC, c.1293delC, p.Q380fsX386
Systematic name Allele 2: g.62884delG, c.2034delG, p.D627fsX630
Original code II-3
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 13 leading to a
Description premature stop codon
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9472666
RefAuthors Zhu, Z. B., Totemchokchyakarn, K., Atkinson, T. P.,
RefAuthors Volanakis, J. E.
RefTitle Molecular defects leading to human complement component C6
RefTitle deficiency in an african-american family.
RefLoc Clin Exp Immunol 111:91-96 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 45142
Feature /change: -c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 1293
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 380
Feature /change: Q -> SLAVRNX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
Sex XY
Relative Description of pedigree:Individual's (II-2) father (I-1)
Relative and older brother (II-2) also have C6D, but no history of
Relative meningitis, other neisserial infection or other serious
Relative infections. However, individual's oldest brother (II-1)
Relative has a symptomatic history.
Relative C6base; C0006 father
Relative C6base; C0007 brother
Relative C6base; C0008 brother
Symptoms Other clinical features: No history of meningitis or other
Symptoms neisserial infection.
//
ID #D627X630(1),#D627X630(1); standard; MUTATION;
Accession C0004
Systematic name Allele 1 and 2: g.62884delG, c.2034delG, p.D627fsX630
Original code case 1
Description Allele 1 and 2: deletion in the exon 13 leading to a
Description premature stop codon
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8690922
RefAuthors Nishizaka, H., Horiuchi, T., Zhu, Z. B., Fukumori, Y.,
RefAuthors Nagasawa, K., Hayashi, K., Krumdieck, R., Cobbs, C. G.,
RefAuthors Higuchi, M., Yasunaga, S.
RefTitle Molecular bases for inherited human complement component
RefTitle C6 deficiency in two unrelated individuals.
RefLoc J Immunol 156:2309-2315 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
Sex XY
Symptoms General
Symptoms Fever
Symptoms Other clinical features: Disorientation. Patient had a
Symptoms history of meningococcal meningitis.
//
ID #D627X630(2a),#D627X630(2a); standard; MUTATION;
Accession C0006
Systematic name Allele 1 and 2: g.62884delG, c.2034delG, p.D627fsX630
Original code I-1
Description Allele 1 and 2: deletion in the exon 13 leading to a
Description premature stop codon
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9472666
RefAuthors Zhu, Z. B., Totemchokchyakarn, K., Atkinson, T. P.,
RefAuthors Volanakis, J. E.
RefTitle Molecular defects leading to human complement component C6
RefTitle deficiency in an african-american family.
RefLoc Clin Exp Immunol 111:91-96 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0108: 62884
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0108: 2034
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_000065: 627
Feature /change: D -> MKKX
Sex XY
Relative Description of pedigree:Individual (I-1) is a fater of
Relative three sons (II-1, II-2, II-3) who all have C6D.
Relative C6base; C0007 son
Relative C6base; C0008 son
Relative C6base; C0009 son
Symptoms Other clinical features: No history of meningitis or other
Symptoms neisserial infection.
//
ID Intron 16(1a),?; standard; MUTATION;
Accession C0001
Systematic name Allele 1: g.IVS16+2T>C
Original code A II-1
Description Allele 1: point mutation in the intron 16 leading to an
Description amino acid change
Description Allele 2: Not identified
Date 24-May-2002 (Rel. 1, Created)
Date 24-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8871666
RefAuthors Fernie, B. A., Wurzner, R., Orren, A., Morgan, B. P.,
RefAuthors Potter, P. C., Platonov, A. E., Vershinina, I. V.,
RefAuthors Shipulin, G. A., Lachmann, P. J., Hobart, M.J.
RefTitle Molecular bases of combined subtotal deficiencies of C6
RefTitle and C7: their effects in combination with other C6 and C7
RefTitle deficiencies.
RefLoc J Immunol 157:3648-3657 (1996)
RefNumber [2]
RefCrossRef PUBMED; 7535801
RefAuthors Wurzner, R., Hobart, M. J., Fernie, B. A., Mewar, D.,
RefAuthors Potter, P. C., Orren, A., Lachmann, P. J.
RefTitle Molecular basis of subtotal complement C6 deficiency. A
RefTitle carboxy-terminally truncated but functionally active C6.
RefLoc J Clin Invest 95:1877-1883 (1995)
RefNumber [3]
RefCrossRef PUBMED; 1537585
RefAuthors Orren, A., Wurzner, R., Potter, P. C., Fernie, B. A.,
RefAuthors Coetzee, S., Morgan, B. P., Lachmann, P. J.
RefTitle Properties of a low molecular weight complement component
RefTitle C6 found in human subjects with subtotal C6 deficiency.
RefLoc Immunology 75:10-16 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0108: 71714
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
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
Symptoms C6 mutation
Symptoms Defects of C6 expression
Sex XX
Relative Description of pedigree: Patient (A II-1) has four younger
Relative sisters two of which have subtotal C6 deficiency (C6SD).
Relative Sister A II-3 is supposed to have the same mutation as
Relative patient (A II-1). The mutation is very likely to cause
Relative unsuccessful splicing leading to 13,5 % shorter polypeptide.
Relative The youngest sister (A II-5) has been diagnosed with
Relative poststreptococcal nephritis at the age of 11 years.
Relative However, the molecular basis in her case haven't been
Relative verified.
Relative C6base; C0002; sister
//
ID Intron 16(1b),?; standard; MUTATION;
Accession C0002
Systematic name Allele 1: g.IVS16+2T>C
Original code A II-3
Description Allele 1: point mutation in the intron 16 leading to an
Description amino acid change
Description Allele 2: Not identified
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8871666
RefAuthors Fernie, B. A., Wurzner, R., Orren, A., Morgan, B. P.,
RefAuthors Potter, P. C., Platonov, A. E., Vershinina, I. V.,
RefAuthors Shipulin, G. A., Lachmann, P. J., Hobart, M.J.
RefTitle Molecular bases of combined subtotal deficiencies of C6
RefTitle and C7: their effects in combination with other C6 and C7
RefTitle deficiencies.
RefLoc J Immunol 157:3648-3657 (1996)
RefNumber [2]
RefCrossRef PUBMED; 7535801
RefAuthors Wurzner, R., Hobart, M. J., Fernie, B. A., Mewar, D.,
RefAuthors Potter, P. C., Orren, A., Lachmann, P. J.
RefTitle Molecular basis of subtotal complement C6 deficiency. A
RefTitle carboxy-terminally truncated but functionally active C6.
RefLoc J Clin Invest 95:1877-1883 (1995)
RefNumber [3]
RefCrossRef PUBMED; 1537585
RefAuthors Orren, A., Wurzner, R., Potter, P. C., Fernie, B. A.,
RefAuthors Coetzee, S., Morgan, B. P., Lachmann, P. J.
RefTitle Properties of a low molecular weight complement component
RefTitle C6 found in human subjects with subtotal C6 deficiency.
RefLoc Immunology 75:10-16 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0108: 71714
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
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
Symptoms C6 mutation
Symptoms Defects of C6 expression
Sex XX
Relative Description of pedigree:Patient (A II-3) has four sisters
Relative two of which have subtotal C6 deficiency (C6SD). The oldest
Relative sister (A II-1) is supposed to have the same mutation as
Relative patient (A II-3). The mutation is very likely to cause
Relative unsuccessful splicing leading to 13,5 % shorter
Relative polypeptide. The youngest sister (A II-5) has been
Relative diagnosed with poststreptococcal nephritis at the age of
Relative 11 years. However, the molecular basis in her case haven't
Relative been verified.
Relative C6base; C0001; sister
//
ID Intron 16(2),?; standard; MUTATION;
Accession C0003
Systematic name Allele 1: g.IVS16+2T>C
Original code B II-2
Description Allele 1: point mutation in the intron 16 leading to an
Description amino acid change
Description Allele 2: Not identified
Date 27-May-2002 (Rel. 1, Created)
Date 27-May-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8871666
RefAuthors Fernie, B. A., Wurzner, R., Orren, A., Morgan, B. P.,
RefAuthors Potter, P. C., Platonov, A. E., Vershinina, I. V.,
RefAuthors Shipulin, G. A., Lachmann, P. J., Hobart, M.J.
RefTitle Molecular bases of combined subtotal deficiencies of C6
RefTitle and C7: their effects in combination with other C6 and C7
RefTitle deficiencies.
RefLoc J Immunol 157:3648-3657 (1996)
RefNumber [2]
RefCrossRef PUBMED; 7535801
RefAuthors Wurzner, R., Hobart, M. J., Fernie, B. A., Mewar, D.,
RefAuthors Potter, P. C., Orren, A., Lachmann, P. J.
RefTitle Molecular basis of subtotal complement C6 deficiency. A
RefTitle carboxy-terminally truncated but functionally active C6.
RefLoc J Clin Invest 95:1877-1883 (1995)
RefNumber [3]
RefCrossRef PUBMED; 1537585
RefAuthors Orren, A., Wurzner, R., Potter, P. C., Fernie, B. A.,
RefAuthors Coetzee, S., Morgan, B. P., Lachmann, P. J.
RefTitle Properties of a low molecular weight complement component
RefTitle C6 found in human subjects with subtotal C6 deficiency.
RefLoc Immunology 75:10-16 (1992)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0108: 71714
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
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
Symptoms C6 mutation
Symptoms Defects of C6 expression
Sex XX
Relative Description of pedigree:Patient (B II-2) has four siblings
Relative two of which have subtotal C6 deficiency (C6SD): her only
Relative brother (younger, B II-4) and her youngest sister (B II-6)
Relative have the same phenotype. The mutation is very likely to
Relative cause unsuccessful splicing leading to 13,5 % shorter
Relative polypeptide. Patient (B II-2) has a daughter (B III-1) and
Relative a son (B III-3) who have total C6 deficiency.
//
//
|
