Database C8Bbase
Version 1.0
File c8bpub.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/C8Bbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF56.html
Gene C8B
Disease C8B deficiency
OMIM 120960
GDB 119736
Sequence IDRefSeq:D0010; IDRefSeq:C0010; UniProt:P07358
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Q91X(1a),R428X(35a); standard; MUTATION; TSP1-1,
Accession C0048
Systematic name Allele 1: g.10088C>T, c.271C>T, r.271c>u, p.Gln91X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 9,P
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the TSP1-1 domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10088
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 298
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 91
Feature /change: Q -> X
Feature /domain: TSP1-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0049 sibling
Relative C8Bbase; C0050 sibling
Relative C8Bbase; C0051 sibling
//
ID Q91X(1b),R428X(35b); standard; MUTATION; TSP1-1,
Accession C0049
Systematic name Allele 1: g.10088C>T, c.271C>T, r.271c>u, p.Gln91X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 9,S
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the TSP1-1 domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10088
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 298
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 91
Feature /change: Q -> X
Feature /domain: TSP1-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0048 sibling
Relative C8Bbase; C0050 sibling
Relative C8Bbase; C0051 sibling
//
ID Q91X(1c),R428X(35c); standard; MUTATION; TSP1-1,
Accession C0050
Systematic name Allele 1: g.10088C>T, c.271C>T, r.271c>u, p.Gln91X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 9,S
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the TSP1-1 domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10088
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 298
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 91
Feature /change: Q -> X
Feature /domain: TSP1-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0048 sibling
Relative C8Bbase; C0049 sibling
Relative C8Bbase; C0051 sibling
//
ID Q91X(1d),R428X(35d); standard; MUTATION; TSP1-1,
Accession C0051
Systematic name Allele 1: g.10088C>T, c.271C>T, r.271c>u, p.Gln91X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 9,S
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the TSP1-1 domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10088
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 298
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 91
Feature /change: Q -> X
Feature /domain: TSP1-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0048 sibling
Relative C8Bbase; C0049 sibling
Relative C8Bbase; C0050 sibling
//
ID Q91X(2),@L350X357(1); standard; MUTATION; TSP1-1,TM
Accession C0060
Systematic name Allele 1: g.10088C>T, c.271C>T, r.271c>u, p.Gln91X
Systematic name Allele 2: g.21092_21098dup, c.1041_1047dup, r.1041_1047dup,
Systematic name p.Leu350fsX8
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon in the TSP1-1 domain
Description Allele 2: A frame shift duplication mutation in the exon 7
Description leading to a premature stop codon in the TM domain
Date 24-Jun-2010 (Rel. 1, Created)
Date 24-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19434484
RefAuthors Arnold, D. F., Roberts, A. G., Thomas, A., Ferry, B.,
RefAuthors Morgan, B. P., Chapel, H.
RefTitle A novel mutation in a patient with a deficiency of the
RefTitle eighth component of complement associated with recurrent
RefTitle meningococcal meningitis.
RefLoc J Clin Immunol:691-695 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10088
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010; GI:179719; C8BC: 298
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 91
Feature /change: Q -> X
Feature /domain: TSP1-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0010: 21099
Feature /change: +ggctgtg
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0010; GI:179719; C8BC: 1075
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 350
Feature /change: L -> GCAWGHLX
Feature /domain: TM
Symptoms Meningococcal septicaemia
Age 15
Sex XY
Ethnic origin Caucasoid; Great Britain
Comment Patient's father carried the duplication mutation and
Comment mother carried the nonsense mutation.
//
ID #T112X134(1a),#P202X206(1a); standard; MUTATION; TSP1-1,
Accession C0052
Systematic name Allele 1: g.10153delC, c.336delC, r.336delc, p.Asn113fsX22
Systematic name Allele 2: g.14868delC, c.605delC, r.605delc, p.Pro202fsX5
Original code Family 10,P
Description Allele 1: a frame shift deletion mutation in the exon 3
Description leading to a premature stop codon in the TSP1-1 domain
Description Allele 2: a frame shift deletion in the exon 5 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1889047
RefAuthors Figueroa, J. E., Densen, P.
RefTitle Infectious diseases associated with complement
RefTitle deficiencies.
RefLoc Clin Microbiol Rev 4:359-395 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0010: 10153
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0010: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 112
Feature /change: T -> TTDHAEVKCD VKALCVHRQE GVX
Feature /domain: TSP1-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0010: 14868
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0010: 632
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 202
Feature /change: P -> RITSX
Ethnic origin Mongoloid
Relative C8Bbase; C0053 sibling
//
ID #T112X134(1b),#P202X206(1b); standard; MUTATION; TSP1-1,
Accession C0053
Systematic name Allele 1: g.10153delC, c.336delC, r.336delc, p.Asn113fsX22
Systematic name Allele 2: g.14868delC, c.605delC, r.605delc, p.Pro202fsX5
Original code Family 10,S
Description Allele 1: a frame shift deletion mutation in the exon 3
Description leading to a premature stop codon in the TSP1-1 domain
Description Allele 2: a frame shift deletion in the exon 5 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1889047
RefAuthors Figueroa, J. E., Densen, P.
RefTitle Infectious diseases associated with complement
RefTitle deficiencies.
RefLoc Clin Microbiol Rev 4:359-395 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0010: 10153
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0010: 363
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 112
Feature /change: T -> TTDHAEVKCD VKALCVHRQE GVX
Feature /domain: TSP1-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0010: 14868
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0010: 632
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 202
Feature /change: P -> RITSX
Ethnic origin Mongoloid
Relative C8Bbase; C0052 sibling
//
ID R121X(1a),R428X(34a); standard; MUTATION; LDL-R-A,
Accession C0046
Systematic name Allele 1: g.10178C>T, c.361C>T, r.361c>u, p.Arg121X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 8,P
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the LDL-R-A domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10178
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 388
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 121
Feature /change: R -> X
Feature /domain: LDL-R-A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0047 sibling
//
ID R121X(1b),R428X(34b); standard; MUTATION; LDL-R-A,
Accession C0047
Systematic name Allele 1: g.10178C>T, c.361C>T, r.361c>u, p.Arg121X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 8,S
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the LDL-R-A domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10178
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 388
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 121
Feature /change: R -> X
Feature /domain: LDL-R-A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0046 sibling
//
ID R121X(2),R428X(36); standard; MUTATION; LDL-R-A,
Accession C0054
Systematic name Allele 1: g.10178C>T, c.361C>T, r.361c>u, p.Arg121X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 32,P
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the LDL-R-A domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10178
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 388
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 121
Feature /change: R -> X
Feature /domain: LDL-R-A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R121X(3a),R121X(3a); standard; MUTATION; LDL-R-A,LDL-R-A
Accession C0055
Systematic name Allele 1 and 2: g.10178C>T, c.361C>T, r.361c>u, p.Arg121X
Original code Family 33,F
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description a premature stop codon in the LDL-R-A domain
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10178
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 388
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 121
Feature /change: R -> X
Feature /domain: LDL-R-A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10178
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 388
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 121
Feature /change: R -> X
Feature /domain: LDL-R-A
Ethnic origin Caucasoid
Relative C8Bbase; C0056 offspring
//
ID R121X(3b),R428X(37); standard; MUTATION; LDL-R-A,
Accession C0056
Systematic name Allele 1: g.10178C>T, c.361C>T, r.361c>u, p.Arg121X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 33,P
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the LDL-R-A domain
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 10178
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 388
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 121
Feature /change: R -> X
Feature /domain: LDL-R-A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0055 father
//
ID R274X(1),R428X(33); standard; MUTATION;
Accession C0045
Systematic name Allele 1: g.17378C>T, c.820C>T, r.820c>u, p.Arg274X
Systematic name Allele 2: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Family 7,P
Description Allele 1: a point mutation in the exon 6 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 17378
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 847
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 274
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(1a),R428X(1a); standard; MUTATION;
Accession C0001
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Pedigree I, T
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 15-Oct-2004 (Rel. 1, Created)
Date 15-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8098723
RefAuthors Kaufmann, T., Hänsch, G., Rittner, C.,
RefAuthors Späth, P., Tedesco, F., Schneider, P. M.
RefTitle Genetic basis of human complement C8 beta deficiency.
RefLoc J Immunol 150:4943-4947 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid; Italy
Relative C8Bbase; C0002 brother
//
ID R428X(1b),R428X(1b); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Pedigree I, T
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 15-Oct-2004 (Rel. 1, Created)
Date 15-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8098723
RefAuthors Kaufmann, T., Hänsch, G., Rittner, C.,
RefAuthors Späth, P., Tedesco, F., Schneider, P. M.
RefTitle Genetic basis of human complement C8 beta deficiency.
RefLoc J Immunol 150:4943-4947 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid; Italy
Relative C8Bbase; C0001 brother
//
ID R428X(2),?; standard; MUTATION;
Accession C0003
Systematic name Allele 1: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code Pedigree II, CH90
Description Allele 1: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 15-Oct-2004 (Rel. 1, Created)
Date 15-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8098723
RefAuthors Kaufmann, T., Hänsch, G., Rittner, C.,
RefAuthors Späth, P., Tedesco, F., Schneider, P. M.
RefTitle Genetic basis of human complement C8 beta deficiency.
RefLoc J Immunol 150:4943-4947 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
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
Ethnic origin Caucasoid; Switzerland
//
ID R428X(3),R428X(3); standard; MUTATION;
Accession C0004
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code CH88
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 15-Oct-2004 (Rel. 1, Created)
Date 15-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8098723
RefAuthors Kaufmann, T., Hänsch, G., Rittner, C.,
RefAuthors Späth, P., Tedesco, F., Schneider, P. M.
RefTitle Genetic basis of human complement C8 beta deficiency.
RefLoc J Immunol 150:4943-4947 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XX
Ethnic origin Caucasoid; Switzerland
//
ID R428X(4),?; standard; MUTATION;
Accession C0005
Systematic name Allele 1: g.26012C>T, c.1282C>T, r.1282c>u, p.Arg428X
Original code CH85
Description Allele 1: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 15-Oct-2004 (Rel. 1, Created)
Date 15-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8098723
RefAuthors Kaufmann, T., Hänsch, G., Rittner, C.,
RefAuthors Späth, P., Tedesco, F., Schneider, P. M.
RefTitle Genetic basis of human complement C8 beta deficiency.
RefLoc J Immunol 150:4943-4947 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
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
Ethnic origin Caucasoid; Poland
//
ID R428X(5a),R428X(5a); standard; MUTATION;
Accession C0006
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code W
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 15-Oct-2004 (Rel. 1, Created)
Date 15-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8098723
RefAuthors Kaufmann, T., Hänsch, G., Rittner, C.,
RefAuthors Späth, P., Tedesco, F., Schneider, P. M.
RefTitle Genetic basis of human complement C8 beta deficiency.
RefLoc J Immunol 150:4943-4947 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid; Germany
Relative C8Bbase; C0007 sibling
//
ID R428X(5b),R428X(5b); standard; MUTATION;
Accession C0007
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code W
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 15-Oct-2004 (Rel. 1, Created)
Date 15-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8098723
RefAuthors Kaufmann, T., Hänsch, G., Rittner, C.,
RefAuthors Späth, P., Tedesco, F., Schneider, P. M.
RefTitle Genetic basis of human complement C8 beta deficiency.
RefLoc J Immunol 150:4943-4947 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid; Germany
Relative C8Bbase; C0006 sibling
//
ID R428X(6a),R428X(6a); standard; MUTATION;
Accession C0008
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family I,I;2
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 18-Oct-2004 (Rel. 1, Created)
Date 18-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8020197
RefAuthors Barba, G. M., Kaufmann, T. J., Schneider, P. M., Rittner,
RefAuthors C., Brai, M.
RefTitle Polymorphism of the complement C8A and -B genes in two
RefTitle families with C8 beta deficiency and neisserial
RefTitle infections.
RefLoc Clin Immunol Immunopathol 72:83-89 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XX
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative C8Bbase; C0009 son
Relative C8Bbase; C0010 son
Relative C8Bbase; C0011 son
Relative C8Bbase; C0012 son
Relative C8Bbase; C0013 daughter
Relative C8Bbase; C0014 granddaughter
//
ID R428X(6b),R428X(6b); standard; MUTATION;
Accession C0009
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family I,II;1
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 18-Oct-2004 (Rel. 1, Created)
Date 18-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8020197
RefAuthors Barba, G. M., Kaufmann, T. J., Schneider, P. M., Rittner,
RefAuthors C., Brai, M.
RefTitle Polymorphism of the complement C8A and -B genes in two
RefTitle families with C8 beta deficiency and neisserial
RefTitle infections.
RefLoc Clin Immunol Immunopathol 72:83-89 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative C8Bbase; C0008 mother
Relative C8Bbase; C0010 brother
Relative C8Bbase; C0011 brother
Relative C8Bbase; C0012 brother
Relative C8Bbase; C0013 sister
Relative C8Bbase; C0014 daughter
//
ID R428X(6c),R428X(6c); standard; MUTATION;
Accession C0010
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family I,II;2
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 18-Oct-2004 (Rel. 1, Created)
Date 18-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8020197
RefAuthors Barba, G. M., Kaufmann, T. J., Schneider, P. M., Rittner,
RefAuthors C., Brai, M.
RefTitle Polymorphism of the complement C8A and -B genes in two
RefTitle families with C8 beta deficiency and neisserial
RefTitle infections.
RefLoc Clin Immunol Immunopathol 72:83-89 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative C8Bbase; C0008 mother
Relative C8Bbase; C0009 brother
Relative C8Bbase; C0011 brother
Relative C8Bbase; C0012 brother
Relative C8Bbase; C0013 sister
Relative C8Bbase; C0014 niece
//
ID R428X(6d),R428X(6d); standard; MUTATION;
Accession C0011
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family I,II;3
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 18-Oct-2004 (Rel. 1, Created)
Date 18-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8020197
RefAuthors Barba, G. M., Kaufmann, T. J., Schneider, P. M., Rittner,
RefAuthors C., Brai, M.
RefTitle Polymorphism of the complement C8A and -B genes in two
RefTitle families with C8 beta deficiency and neisserial
RefTitle infections.
RefLoc Clin Immunol Immunopathol 72:83-89 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative C8Bbase; C0008 mother
Relative C8Bbase; C0009 brother
Relative C8Bbase; C0010 brother
Relative C8Bbase; C0012 brother
Relative C8Bbase; C0013 sister
Relative C8Bbase; C0014 niece
//
ID R428X(6e),R428X(6e); standard; MUTATION;
Accession C0012
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family I,II;7
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 18-Oct-2004 (Rel. 1, Created)
Date 18-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8020197
RefAuthors Barba, G. M., Kaufmann, T. J., Schneider, P. M., Rittner,
RefAuthors C., Brai, M.
RefTitle Polymorphism of the complement C8A and -B genes in two
RefTitle families with C8 beta deficiency and neisserial
RefTitle infections.
RefLoc Clin Immunol Immunopathol 72:83-89 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative C8Bbase; C0008 mother
Relative C8Bbase; C0009 brother
Relative C8Bbase; C0010 brother
Relative C8Bbase; C0011 brother
Relative C8Bbase; C0013 sister
Relative C8Bbase; C0014 niece
//
ID R428X(6f),R428X(6f); standard; MUTATION;
Accession C0013
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family I,II;9
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 18-Oct-2004 (Rel. 1, Created)
Date 18-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8020197
RefAuthors Barba, G. M., Kaufmann, T. J., Schneider, P. M., Rittner,
RefAuthors C., Brai, M.
RefTitle Polymorphism of the complement C8A and -B genes in two
RefTitle families with C8 beta deficiency and neisserial
RefTitle infections.
RefLoc Clin Immunol Immunopathol 72:83-89 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XX
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative C8Bbase; C0008 mother
Relative C8Bbase; C0009 brother
Relative C8Bbase; C0010 brother
Relative C8Bbase; C0011 brother
Relative C8Bbase; C0012 brother
Relative C8Bbase; C0014 niece
//
ID R428X(6g),R428X(6g); standard; MUTATION;
Accession C0014
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family I,III;1
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 18-Oct-2004 (Rel. 1, Created)
Date 18-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8020197
RefAuthors Barba, G. M., Kaufmann, T. J., Schneider, P. M., Rittner,
RefAuthors C., Brai, M.
RefTitle Polymorphism of the complement C8A and -B genes in two
RefTitle families with C8 beta deficiency and neisserial
RefTitle infections.
RefLoc Clin Immunol Immunopathol 72:83-89 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XX
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative C8Bbase; C0008 grandmother
Relative C8Bbase; C0009 father
Relative C8Bbase; C0010 uncle
Relative C8Bbase; C0011 uncle
Relative C8Bbase; C0012 uncle
Relative C8Bbase; C0013 aunt
//
ID R428X(7),R428X(7); standard; MUTATION;
Accession C0057
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 1,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1889047
RefAuthors Figueroa, J. E., Densen, P.
RefTitle Infectious diseases associated with complement
RefTitle deficiencies.
RefLoc Clin Microbiol Rev 4:359-395 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Symptoms Neisseria meningitis 2 times
Sex XX
Ethnic origin Caucasoid
//
ID R428X(8),R428X(8); standard; MUTATION;
Accession C0015
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 2,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1889047
RefAuthors Figueroa, J. E., Densen, P.
RefTitle Infectious diseases associated with complement
RefTitle deficiencies.
RefLoc Clin Microbiol Rev 4:359-395 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Symptoms Neisseria meningitis 2 times
Sex XX
Ethnic origin Caucasoid
//
ID R428X(9),R428X(9); standard; MUTATION;
Accession C0016
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 3,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 1889047
RefAuthors Figueroa, J. E., Densen, P.
RefTitle Infectious diseases associated with complement
RefTitle deficiencies.
RefLoc Clin Microbiol Rev 4:359-395 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Symptoms Neisseria meningitidis disease
Sex XY
Ethnic origin Caucasoid
//
ID R428X(10),R428X(10); standard; MUTATION;
Accession C0017
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 4,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 6433145
RefAuthors Ross, S. C., Densen, P.
RefTitle Complement deficiency states and infection: epidemiology,
RefTitle pathogenesis and consequences of neisserial and other
RefTitle infections in an immune deficiency.
RefLoc Medicine (Baltimore) 63:243-273 (1984)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(11),R428X(11); standard; MUTATION;
Accession C0018
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 5,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 6433145
RefAuthors Ross, S. C., Densen, P.
RefTitle Complement deficiency states and infection: epidemiology,
RefTitle pathogenesis and consequences of neisserial and other
RefTitle infections in an immune deficiency.
RefLoc Medicine (Baltimore) 63:243-273 (1984)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(12a),R428X(12a); standard; MUTATION;
Accession C0019
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 11,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0020 sibling
//
ID R428X(12b),R428X(12b); standard; MUTATION;
Accession C0020
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 11,S
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0019 sibling
//
ID R428X(13),R428X(13); standard; MUTATION;
Accession C0021
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 12,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(14a),R428X(14a); standard; MUTATION;
Accession C0022
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 13,F
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid
Relative C8Bbase; C0023 offspring
//
ID R428X(14b),R428X(14b); standard; MUTATION;
Accession C0023
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 13,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0022 father
//
ID R428X(15),R428X(15); standard; MUTATION;
Accession C0024
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 14,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(16),R428X(16); standard; MUTATION;
Accession C0025
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 15,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(17),R428X(17); standard; MUTATION;
Accession C0026
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 16,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(18a),R428X(18a); standard; MUTATION;
Accession C0027
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 17,F
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XY
Ethnic origin Caucasoid
Relative C8Bbase; C0028 offspring
//
ID R428X(18b),R428X(18b); standard; MUTATION;
Accession C0028
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 17,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0027 father
//
ID R428X(19),R428X(19); standard; MUTATION;
Accession C0029
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 18,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(20a),R428X(20a); standard; MUTATION;
Accession C0030
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 19,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0031 sibling
//
ID R428X(20b),R428X(20b); standard; MUTATION;
Accession C0031
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 19,S
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0030 sibling
//
ID R428X(21),R428X(21); standard; MUTATION;
Accession C0032
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 20,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(22),R428X(22); standard; MUTATION;
Accession C0033
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 21,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(23),R428X(23); standard; MUTATION;
Accession C0034
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 22,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(24),R428X(24); standard; MUTATION;
Accession C0035
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 23,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(25),R428X(25); standard; MUTATION;
Accession C0036
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 24,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(26a),R428X(26a); standard; MUTATION;
Accession C0037
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 25,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0038 sibling
//
ID R428X(26b),R428X(26b); standard; MUTATION;
Accession C0038
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 25,S
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
Relative C8Bbase; C0037 sibling
//
ID R428X(27),R428X(27); standard; MUTATION;
Accession C0039
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 26,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(28),R428X(28); standard; MUTATION;
Accession C0040
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 27,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(29),R428X(29); standard; MUTATION;
Accession C0041
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 28,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 ()
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(30),R428X(30); standard; MUTATION;
Accession C0042
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 29,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(31),R428X(31); standard; MUTATION;
Accession C0043
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 30,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(32),R428X(32); standard; MUTATION;
Accession C0044
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Original code Family 31,P
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 19-Oct-2004 (Rel. 1, Created)
Date 19-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7594510
RefAuthors Saucedo, L., Ackermann, L., Platonov, A. E., Gewurz, A.,
RefAuthors Rakita, R. M., Densen, P.
RefTitle Delineation of additional genetic bases for C8 beta
RefTitle deficiency. prevalence of null alleles and predominance
RefTitle of C-->T transition in their genesis.
RefLoc J Immunol 155:5022-5028 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8231787
RefAuthors Platonov, A. E., Beloborodov, V. B., Vershinina, I. V.
RefTitle Meningococcal disease in patients with late complement
RefTitle component deficiency: studies in the U.S.S.R.
RefLoc Medicine (Baltimore) 72:374-392 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Ethnic origin Caucasoid
//
ID R428X(37a),R428X(37a); standard; MUTATION;
Accession C0058
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 20-Oct-2004 (Rel. 1, Created)
Date 20-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476133
RefAuthors Kotnik, V., Luznik-Bufon, T., Schneider, P. M.,
RefAuthors Kirschfink, M.
RefTitle Molecular, genetic, and functional analysis of homozygous
RefTitle C8 beta-chain deficiency in two siblings.
RefLoc Immunopharmacology 38:215-221 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Symptoms Neisseria meningitidis disease
Sex XY
Ethnic origin Caucasoid; Bosnia
Relative C8Bbase; C0059 sister
//
ID R428X(37b),R428X(37b); standard; MUTATION;
Accession C0059
Systematic name Allele 1 and 2: g.26012C>T, c.1282C>T, r.1282c>u,
Systematic name p.Arg428X
Description Allele 1 and 2: a point mutation in the exon 9 leading to
Description a premature stop codon
Date 20-Oct-2004 (Rel. 1, Created)
Date 20-Oct-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9476133
RefAuthors Kotnik, V., Luznik-Bufon, T., Schneider, P. M.,
RefAuthors Kirschfink, M.
RefTitle Molecular, genetic, and functional analysis of homozygous
RefTitle C8 beta-chain deficiency in two siblings.
RefLoc Immunopharmacology 38:215-221 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0010: 26012
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0010: 1309
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07358; CO8B_HUMAN: 428
Feature /change: R -> X
Sex XX
Ethnic origin Caucasoid; Bosnia
Relative C8Bbase; C0058 brother
//
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