Database        CD59base
Version         1.0
File            cd59pub.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/CD59base/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF103.html
Gene            CD59
Disease         CD59 deficiency 
OMIM            107271
GDB             119769
Sequence        IDRefSeq:D0016; IDRefSeq:C0016; UniProt:P13987 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              #A41X79(1),#A41X79(1); standard; MUTATION; UP/Ly6,UP/Ly6 
Accession       C0001
Systematic name Allele 1 and 2: g.20063delC, c.123delC, r.123delc,
Systematic name p.Val42fsX37
Original code   22-year-old man
Description     Allele 1 and 2: a frame shift deletion mutation in the 
Description     exon 5 leading to a premature stop codon in the UP/Ly6 
Description     domain
Date            24-Aug-2004 (Rel. 1, Created)
Date            24-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 1382994
RefAuthors      Motoyama, N., Okada, N., Yamashina, M., Okada, H.
RefTitle        Paroxysmal nocturnal hemoglobinuria due to hereditary 
RefTitle        nucleotide deletion in the HRF20 (CD59) gene.
RefLoc          Eur J Immunol 22:2669-2673 (1992)
RefNumber       [2]
RefCrossRef     PUBMED; 1699124
RefAuthors      Yamashina, M., Ueda, E., Kinoshita, T., Takami, T., 
RefAuthors      Ojima, A., Ono, H., Tanaka, H., Kondo, N., Orii, T., 
RefAuthors      Okada, N.
RefTitle        Inherited complete deficiency of 20-kilodalton homologous 
RefTitle        restriction factor (CD59) as a cause of paroxysmal 
RefTitle        nocturnal hemoglobinuria.
RefLoc          N Engl J Med 323:1184-1189 (1990)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0016: 20063
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0016: 399
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P13987; CD59_HUMAN: 41
Feature           /change: A -> ASIVHLILMR VSLPKLGYKC ITSVGSLSIA ISTTSQPAX
Feature           /domain: UP/Ly6
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0016: 20063
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0016: 399
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P13987; CD59_HUMAN: 41
Feature           /change: A -> ASIVHLILMR VSLPKLGYKC ITSVGSLSIA ISTTSQPAX
Feature           /domain: UP/Ly6
Symptoms        Intermittent pallor and hematuria of 9 years duration,
Symptoms        hemolytic anemia, hemoglobinuria, cerebral infarction
Sex             XY
Parents         Consanguineous
//