Database CD55base
Version 1.0
File cd55pub.html
Date 14-Jun-2007
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/CD55base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF102.html
Gene CD55
Disease Decay-accelerating factor (CD55) deficiency
OMIM 125240
GDB 119088
Sequence IDRefSeq:D0104; IDRefSeq:C0104; UniProt:P08174
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID W87X(1),W87X(1); standard; MUTATION; SUSHI1,SUSHI1
Accession D0005
Systematic name Allele 1 and 2: g.2023G>A, c.261G>A, r.261g>a, p.Trp87X
Original code Inab
Description Allele 1 and 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the SUSHI1 domain
Date 09-Sep-2005 (Rel. 1, Created)
Date 09-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7519480
RefAuthors Lublin, D. M., Mallinson, G., Poole, J., Reid, M. E.,
RefAuthors Thompson, E. S., Ferdman, B. R., Telen, M. J., Anstee, D.
RefAuthors J., Tanner, M. J.
RefTitle Molecular basis of reduced or absent expression of decay-
RefTitle accelerating factor in cromer blood group phenotypes.
RefLoc Blood 84:1276-1282 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 2023
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0104: 507
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 87
Feature /change: W -> X
Feature /domain: SUSHI1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 2023
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0104: 507
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 87
Feature /change: W -> X
Feature /domain: SUSHI1
Diagnosis DAF deficiency, Inab
//
ID W87X(2),W87X(2); standard; MUTATION; SUSHI1,SUSHI1
Accession D0007
Systematic name Allele 1 and 2: g.2023G>A, c.261G>A, r.261g>a, p.Trp87X
Original code Osad, II-1
Description Allele 1 and 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the SUSHI1 domain
Date 12-Sep-2005 (Rel. 1, Created)
Date 12-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9675792
RefAuthors Daniels, G. L., Green, C. A., Mallinson, G., Okubo, Y.,
RefAuthors Hori, Y., Kataoka, A., Kaihara, M.
RefTitle Decay-accelerating factor (CD55) deficiency phenotypes in
RefTitle japanese.
RefLoc Transfus Med 8:141-147 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 2023
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0104: 507
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 87
Feature /change: W -> X
Feature /domain: SUSHI1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 2023
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0104: 507
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 87
Feature /change: W -> X
Feature /domain: SUSHI1
Diagnosis DAF deficiency, Inab
Sex XX
Ethnic origin Mongoloid; Japan
Family history Inherited
//
ID R170X(1),R170X(1); standard; MUTATION; SUSHI3,SUSHI3
Accession D0009
Systematic name Allele 1 and 2: g.5132C>T, c.508C>T, r.508c>u, p.Arg170X
Original code 91-year-old Japanese woman
Description Allele 1 and 2: a point mutation in the exon 4 leading to a
Description premature stop codon in the SUSHI3 domain
Date 13-Sep-2005 (Rel. 1, Created)
Date 13-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15954804
RefAuthors Hue-Roye, K., Powell, V. I., Patel, G., Lane, D., Maguire,
RefAuthors M., Chung, A., Reid, M. E.
RefTitle Novel molecular basis of an inab phenotype.
RefLoc Immunohematol 21:53-55 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 5132
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: C0104: 754
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 170
Feature /change: R -> X
Feature /domain: SUSHI3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 5132
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: C0104: 754
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 170
Feature /change: R -> X
Feature /domain: SUSHI3
Diagnosis DAF deficiency, Inab
Sex XX
Ethnic origin Mongoloid; Japan
//
ID S199L(1),S199L(1); standard; MUTATION; SUSHI3,SUSHI3
Accession D0001
Systematic name Allele 1 and 2: g.6250C>T, c.596C>T, r.596c>u, p.Ser199Leu
Original code M.D.
Description Allele 1 and 2: a point mutation in the exon 5 leading to
Description an amino acid change in the SUSHI3 domain
Date 14-Jun-2005 (Rel. 1, Created)
Date 14-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1710232
RefAuthors Lublin, D. M., Thompson, E. S., Green, A. M., Levene, C.,
RefAuthors Telen, M. J.
RefTitle Dr(a-) polymorphism of decay accelerating factor.
RefTitle biochemical, functional, and molecular characterization
RefTitle and production of allele-specific transfectants.
RefLoc J Clin Invest 87:1945-1952 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
Diagnosis DAF deficiency, Dr(a-)
//
ID S199L(2),S199L(2); standard; MUTATION; SUSHI3,SUSHI3
Accession D0002
Systematic name Allele 1 and 2: g.6250C>T, c.596C>T, r.596c>u, p.Ser199Leu
Original code OZ[Ref2]
Description Allele 1 and 2: a point mutation in the exon 5 leading to
Description an amino acid change in the SUSHI3 domain
Date 16-Jun-2005 (Rel. 1, Created)
Date 16-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1710232
RefAuthors Lublin, D. M., Thompson, E. S., Green, A. M., Levene, C.,
RefAuthors Telen, M. J.
RefTitle Dr(a-) polymorphism of decay accelerating factor.
RefTitle biochemical, functional, and molecular characterization
RefTitle and production of allele-specific transfectants.
RefLoc J Clin Invest 87:1945-1952 (1991)
RefNumber [2]
RefCrossRef PUBMED; 7519480
RefAuthors Lublin, D. M., Mallinson, G., Poole, J., Reid, M. E.,
RefAuthors Thompson, E. S., Ferdman, B. R., Telen, M. J., Anstee, D.
RefAuthors J., Tanner, M. J.
RefTitle Molecular basis of reduced or absent expression of decay-
RefTitle accelerating factor in cromer blood group phenotypes.
RefLoc Blood 84:1276-1282 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
Diagnosis DAF deficiency, Dr(a-)
//
ID S199L(3),S199L(3); standard; MUTATION; SUSHI3,SUSHI3
Accession D0003
Systematic name Allele 1 and 2: g.6250C>T, c.596C>T, r.596c>u, p.Ser199Leu
Description Allele 1 and 2: a point mutation in the exon 5 leading to
Description an amino acid change in the SUSHI3 domain
Date 16-Jun-2005 (Rel. 1, Created)
Date 16-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1710232
RefAuthors Lublin, D. M., Thompson, E. S., Green, A. M., Levene, C.,
RefAuthors Telen, M. J.
RefTitle Dr(a-) polymorphism of decay accelerating factor.
RefTitle biochemical, functional, and molecular characterization
RefTitle and production of allele-specific transfectants.
RefLoc J Clin Invest 87:1945-1952 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
Diagnosis DAF deficiency, Dr(a-)
//
ID S199L(4),S199L(4); standard; MUTATION; SUSHI3,SUSHI3
Accession D0004
Systematic name Allele 1 and 2: g.6250C>T, c.596C>T, r.596c>u, p.Ser199Leu
Original code KZ
Description Allele 1 and 2: a point mutation in the exon 5 leading to
Description an amino acid change and aberrant splicing in the SUSHI3
Description domain
Date 16-Jun-2005 (Rel. 1, Created)
Date 16-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7519480
RefAuthors Lublin, D. M., Mallinson, G., Poole, J., Reid, M. E.,
RefAuthors Thompson, E. S., Ferdman, B. R., Telen, M. J., Anstee, D.
RefAuthors J., Tanner, M. J.
RefTitle Molecular basis of reduced or absent expression of decay-
RefTitle accelerating factor in cromer blood group phenotypes.
RefLoc Blood 84:1276-1282 (1994)
RefNumber [2]
RefCrossRef PUBMED; 1720702
RefAuthors Reid, M. E., Mallinson, G., Sim, R. B., Poole, J., Pausch,
RefAuthors V., Merry, A. H., Liew, Y. W., Tanner, M. J.
RefTitle Biochemical studies on red blood cells from a patient with
RefTitle the inab phenotype (decay-accelerating factor deficiency).
RefLoc Blood 78:3291-3297 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0104: 825..868
Feature /change: -gtacaaatta tttggctcga cttctagttt ttgtcttatt tcag
Feature /codon: tcg -> ttg; 2
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 193..208
Feature /change: GYKLFGSTSS FCLISG -> GQLCPVEX
Feature /domain: SUSHI3
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: frameshift
Feature /loc: IDRefSeq: C0104: 825..868
Feature /change: -gtacaaatta tttggctcga cttctagttt ttgtcttatt tcag
Feature /codon: tcg -> ttg; 2
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
Feature aa; 12
Feature /rnalink: 10
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 193..208
Feature /change: GYKLFGSTSS FCLISG -> GQLCPVEX
Feature /domain: SUSHI3
Diagnosis DAF deficiency, Dr(a-)
Sex XX
Ethnic origin Caucasoid; Russia
//
ID S199L(5),S199L(5); standard; MUTATION; SUSHI3,SUSHI3
Accession D0008
Systematic name Allele 1 and 2: g.6250C>T, c.596C>T, r.596c>u, p.Ser199Leu
Original code Kim
Description Allele 1 and 2: a point mutation in the exon 5 leading to
Description an amino acid change in the SUSHI3 domain
Date 12-Sep-2005 (Rel. 1, Created)
Date 12-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9675792
RefAuthors Daniels, G. L., Green, C. A., Mallinson, G., Okubo, Y.,
RefAuthors Hori, Y., Kataoka, A., Kaihara, M.
RefTitle Decay-accelerating factor (CD55) deficiency phenotypes in
RefTitle japanese.
RefLoc Transfus Med 8:141-147 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 6250
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0104: 842
Feature /codon: tcg -> ttg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P08174; DAF_HUMAN: 199
Feature /change: S -> L
Feature /domain: SUSHI3
Diagnosis DAF deficiency, Dr(a-)
Sex XX
Ethnic origin Mongoloid; Japan
Family history Inherited
//
ID Intron 2(1),Intron 2(1); standard; MUTATION; SUSHI1,SUSHI1
Accession D0006
Systematic name Allele 1 and 2: g.2025C>A, c.263C>A, r.263c>a,
Original code H.A.
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description aberrant splicing and premature termination
Date 12-Sep-2005 (Rel. 1, Created)
Date 12-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9427725
RefAuthors Wang, L., Uchikawa, M., Tsuneyama, H., Tokunaga, K.,
RefAuthors Tadokoro, K., Juji, T.
RefTitle Molecular cloning and characterization of decay-
RefTitle accelerating factor deficiency in cromer blood group inab
RefTitle phenotype.
RefLoc Blood 91:680-684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0104: 2025
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0104: 507..532
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 87..96
Feature /change: WSDIEEFCNR -> WX
Feature /domain: SUSHI1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0104: 2025
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0104: 507..532
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P08174; DAF_HUMAN: 87..96
Feature /change: WSDIEEFCNR -> WX
Feature /domain: SUSHI1
Diagnosis DAF deficiency, Inab
Sex XX
Ethnic origin Mongoloid; Japan
//
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