Database C9base
Version 1.2
File c9pub.html
Date 21-Aug-2008
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/C9base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF94.html
Gene C9
Disease C9 Deficiency
OMIM 120940
GDB 119738
Sequence IDRefSeq:D0110; IDRefSeq:C0110; GenBank:NP_001728
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID C54X(1a),R154X(1a); standard; MUTATION; TSP TYPE-1
Accession C0001
Systematic name Allele 1: g.23357C>A, c.166C>A, p.C54X
Systematic name Allele 2: g.24307C>T, c.464C>T, p.R154X
Original code II-3
Description Allele 1: point mutation in the exon 2 leading to a
Description premature stop codon in the TSP TYPE-1 domain
Description Allele 2: point mutation in the exon 4 leading to a
Description premature stop codon
Date 11-Jul-2002 (Rel. 1, Created)
Date 11-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9144525
RefAuthors Witzel-Schlomp, K., Spath, P. J., Hobart, M. J., Fernie,
RefAuthors B. A., Rittner, C., Kaufmann, T., Schneider, P. M.
RefTitle The human complement C9 gene: identification of two
RefTitle mutations causing deficiency and revision of the gene
RefTitle structure.
RefLoc J Immunol 158:5043-5049 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 23357
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 166
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 54
Feature /change: C -> X
Feature /domain: TSP TYPE-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24307
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 464
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 154
Feature /change: R -> X
Haplotype Allele 1:
Haplotype A/B:B; MspI:-; TaqI:L; TaqI(225):4.2; TaqI(233):H;
Haplotype exon13 A/T:A; M/N:M; intron12 A/C:A; DdeI:-;
Haplotype TaqI:A1; intron1 A/G:A; exon2 stop:+; exon4 A/C:A;
Haplotype exon4 stop:-; exon11 T/A:T;
Haplotype Allele 2:
Haplotype A/B:B; MspI:-; TaqI:L; TaqI(225):4.0; TaqI(233):L;
Haplotype exon13 A/T:A; M/N:N; intron12 A/C:C; DdeI:+;
Haplotype TaqI:A1; intron1 A/G:A; exon2 stop:-; exon4 A/C:A;
Haplotype exon4 stop:+; exon11 T/A:A;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree:Patient's sister (II-1) has
Relative reduced C9 levels and brother (II-2) is C9 deficient.
Relative C9base; C0009 brother
Symptoms Bacterial infections
Symptoms Meningitis
Symptoms Patient presented rapidly increasing occipital
Symptoms headache, fever and arthralgia. At the admission
Symptoms patient was pyrexial, somnolent and confused.
Symptoms Patient had neck stiffness and abnormal Las觵e's
Symptoms and Babinski's signs on both sides. Patient's
Symptoms CSF was turbid.
Comments C6: A/B; MspI; TaqI;
Comments C7: TaqI(225); TaqI(233); exon13 A/T; M/N;
Comments intron12 A/C; DdeI;
Comments C9: TaqI; intron1 A/G; exon2 stop; exon4 A/C;
Comments exon4 stop; exon11 T/A;
//
ID C54X(1b),R154X(1b); standard; MUTATION; TSP TYPE-1
Accession C0009
Systematic name Allele 1: g.23357C>A, c.166C>A, p.C54X
Systematic name Allele 2: g.24307C>T, c.464C>T, p.R154X
Original code II-2
Description Allele 1: point mutation in the exon 2 leading to a
Description premature stop codon in the TSP TYPE-1 domain
Description Allele 2: point mutation in the exon 4 leading to a
Description premature stop codon
Date 15-Jul-2002 (Rel. 1, Created)
Date 15-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9144525
RefAuthors Witzel-Schlomp, K., Spath, P. J., Hobart, M. J., Fernie,
RefAuthors B. A., Rittner, C., Kaufmann, T., Schneider, P. M.
RefTitle The human complement C9 gene: identification of two
RefTitle mutations causing deficiency and revision of the gene
RefTitle structure.
RefLoc J Immunol 158:5043-5049 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 23357
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 166
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 54
Feature /change: C -> X
Feature /domain: TSP TYPE-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24307
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 464
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 154
Feature /change: R -> X
Haplotype Allele 1:
Haplotype A/B:B; MspI:-; TaqI:L; TaqI(225):4.2; TaqI(233):H;
Haplotype exon13 A/T:A; M/N:M; intron12 A/C:A; DdeI:-;
Haplotype TaqI:A1; intron1 A/G:A; exon2 stop:+; exon4 A/C:A;
Haplotype exon4 stop:-; exon11 T/A:T;
Haplotype Allele 2:
Haplotype A/B:B; MspI:-; TaqI:L; TaqI(225):4.0; TaqI(233):L;
Haplotype exon13 A/T:A; M/N:N; intron12 A/C:C; DdeI:+;
Haplotype TaqI:A1; intron1 A/G:A; exon2 stop:-; exon4 A/C:A;
Haplotype exon4 stop:+; exon11 T/A:A;
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree:Patient's sister (II-1) has
Relative reduced C9 levels and brother (II-3) is C9 deficient.
Relative C9base; C0001 brother
Symptoms No known history of serious infections
Comments C6: A/B; MspI; TaqI;
Comments C7: TaqI(225); TaqI(233); exon13 A/T; M/N;
Comments intron12 A/C; DdeI;
Comments C9: TaqI; intron1 A/G; exon2 stop; exon4 A/C;
Comments exon4 stop; exon11 T/A;
//
ID C54X(2),R116X(1); standard; MUTATION; TSP TYPE-1,LDL-RECEPTOR CLASS A
Accession C0002
Systematic name Allele 1: g.23357C>A, c.166C>A, p.C54X
Systematic name Allele 2: g.24193C>T, c.350C>T, p.R116X
Original code patient X
Description Allele 1: point mutation in the exon 2 leading to a
Description premature stop codon in the TSP TYPE-1 domain
Description Allele 2: point mutation in the exon 4 leading to a
Description premature stop codon in the LDL-RECEPTOR CLASS A domain
Date 12-Jul-2002 (Rel. 1, Created)
Date 12-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9634479
RefAuthors Witzel-Schlomp, K., Hobart, M. J., Fernie, B. A., Orren,
RefAuthors A., Wurzner, R., Rittner, C., Kaufmann, T., Schneider, P.
RefAuthors M.
RefTitle Heterogeneity in the genetic basis of human complement C9
RefTitle deficiency.
RefLoc Immunogenetics 48:144-147 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9182899
RefAuthors Hobart, M. J., Fernie, B. A., Wurzner, R., Oldroyd, R. G.,
RefAuthors Harrison, R. A., Joysey, V., Lachmann, P. J.
RefTitle Difficulties in the ascertainment of C9 deficiency:
RefTitle lessons to be drawn from a compound heterozygote C9-
RefTitle deficient subject.
RefLoc Clin Exp Immunol 108:500-506 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 23357
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 166
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 54
Feature /change: C -> X
Feature /domain: TSP TYPE-1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is of Irish origin.
Comments Patient had received a kidney allograft more than
Comments 25 years ago (as from 2002) and was among a group of
Comments long-term kidney graft recipients with mismatched grafts.
Comments Patient was investigated in order to analyse the role, if
Comments any, of complement activity on patient's acceptance of
Comments his / her graft. This investigation revealed patient to
Comments be C9 deficient.
//
ID R116X(2),R116X(2); standard; MUTATION;
ID LDL-RECEPTOR CLASS A,LDL-RECEPTOR CLASS A
Accession C0004
Systematic name Allele 1 and 2: g.24193C>T, c.350C>T, p.R116X
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon in the LDL-RECEPTOR CLASS A domain
Date 12-Jul-2002 (Rel. 1, Created)
Date 12-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11359403
RefAuthors Ichikawa, E., Furuta, J., Kawachi, Y., Imakado, S.,
RefAuthors Otsuka, F.
RefTitle Hereditary complement (C9) deficiency associated with
RefTitle dermatomyositis.
RefLoc Br J Dermatol 144:1080-1083 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
Sex XX
Ethnic origin Mongoloid
Symptoms emerged at the age of 28
Symptoms Other clinical features: 28-year old (2001) Japanese woman
Symptoms had been generally well and physically active all her life
Symptoms until she presented with a 1-month history of progressive
Symptoms muscle weakness. She had a 3-year history of facial
Symptoms erythema and examination revealed a light purplish
Symptoms erythematous area on the patient's cheeks extending to
Symptoms involve the upper eyelids. Proximal muscle weakness was
Symptoms evident. She had difficulty in raising her arms above her
Symptoms head.
//
ID R116X(3),R116X(3); standard; MUTATION;
ID LDL-RECEPTOR CLASS A,LDL-RECEPTOR CLASS A
Accession C0005
Systematic name Allele 1 and 2: g.24193C>T, c.350C>T, p.R116X
Original code patient 1
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon in the LDL-RECEPTOR CLASS A domain
Date 15-Jul-2002 (Rel. 1, Created)
Date 15-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9703418
RefAuthors Kira, R., Ihara, K., Takada, H., Gondo, K., Hara, T.
RefTitle Nonsense mutation in exon 4 of human complement C9 gene is
RefTitle the major cause of japanese complement C9 deficiency.
RefLoc Hum Genet 102:605-610 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
Sex XY
Symptoms Bacterial infections
Symptoms Meningitis
//
ID R116X(4),R116X(4); standard; MUTATION;
ID LDL-RECEPTOR CLASS A,LDL-RECEPTOR CLASS A
Accession C0006
Systematic name Allele 1 and 2: g.24193C>T, c.350C>T, p.R116X
Original code patient 2
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon in the LDL-RECEPTOR CLASS A domain
Date 15-Jul-2002 (Rel. 1, Created)
Date 15-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9703418
RefAuthors Kira, R., Ihara, K., Takada, H., Gondo, K., Hara, T.
RefTitle Nonsense mutation in exon 4 of human complement C9 gene is
RefTitle the major cause of japanese complement C9 deficiency.
RefLoc Hum Genet 102:605-610 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
Sex XX
Symptoms Bacterial infections
Symptoms Meningitis
//
ID R116X(5),R116X(5); standard; MUTATION;
ID LDL-RECEPTOR CLASS A,LDL-RECEPTOR CLASS A
Accession C0007
Systematic name Allele 1 and 2: g.24193C>T, c.350C>T, p.R116X
Original code patient 3
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon in the LDL-RECEPTOR CLASS A domain
Date 15-Jul-2002 (Rel. 1, Created)
Date 15-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9703418
RefAuthors Kira, R., Ihara, K., Takada, H., Gondo, K., Hara, T.
RefTitle Nonsense mutation in exon 4 of human complement C9 gene is
RefTitle the major cause of japanese complement C9 deficiency.
RefLoc Hum Genet 102:605-610 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
Sex XY
Symptoms Bacterial infections
Symptoms Meningitis
//
ID R116X(6),R116X(6); standard; MUTATION;
ID LDL-RECEPTOR CLASS A,LDL-RECEPTOR CLASS A
Accession C0008
Systematic name Allele 1 and 2: g.24193C>T, c.350C>T, p.R116X
Original code patient 4
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon in the LDL-RECEPTOR CLASS A domain
Date 15-Jul-2002 (Rel. 1, Created)
Date 15-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9703418
RefAuthors Kira, R., Ihara, K., Takada, H., Gondo, K., Hara, T.
RefTitle Nonsense mutation in exon 4 of human complement C9 gene is
RefTitle the major cause of japanese complement C9 deficiency.
RefLoc Hum Genet 102:605-610 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24193
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 350
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 116
Feature /change: R -> X
Feature /domain: LDL-RECEPTOR CLASS A
Sex XX
Symptoms Bacterial infections
Symptoms Meningitis
//
ID C119G(1),S427X(1); standard; MUTATION; LDL-RECEPTOR CLASS A
Accession C0003
Systematic name Allele 1: g.24202T>G, c.359T>G, p.C119G
Systematic name Allele 2: g.58679C>G, c.1284C>G, p.S427X
Original code index case Y
Description Allele 1: point mutation in the exon 4 leading to an amino
Description acid change in the LDL-RECEPTOR CLASS A domain
Description Allele 2: point mutation in the exon 9 leading to a
Description premature stop codon
Date 12-Jul-2002 (Rel. 1, Created)
Date 12-Jul-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9634479
RefAuthors Witzel-Schlomp, K., Hobart, M. J., Fernie, B. A., Orren,
RefAuthors A., Wurzner, R., Rittner, C., Kaufmann, T., Schneider, P.
RefAuthors M.
RefTitle Heterogeneity in the genetic basis of human complement C9
RefTitle deficiency.
RefLoc Immunogenetics 48:144-147 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0110: 24202
Feature /change: t -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0110: 359
Feature /codon: tgt -> ggt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: GenBank: NP_001728: 119
Feature /change: C -> G
Feature /domain: LDL-RECEPTOR CLASS A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0110: 58679
Feature /change: c -> g
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0110: 1284
Feature /codon: tca -> tga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: GenBank: NP_001728: 427
Feature /change: S -> X
Ethnic origin Caucasoid
Relative Description of pedigree: Patient is of Irish origin.
//
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