Dtabase         RNF168base
Version         1.0
File            rnf168pub.html
Date            08-Apr-2013
Curator         Mauno Vihinen
Address         Protein Structure and Bioinformatics, University of Tampere, 
Address         FIN-33014 Tampere, Finland
Phone           +46 72 526 0022
Fax             +46 46 222 9328
Email           Mauno Vihinen
URL             http://structure.bmc.lu.se/idbase/RNF168base/
Gene            RNF168
Disease         Riddle Syndrome
OMIM            612688
Sequence        IdRefSeq:D0136; IdRefSeq:C0136; 
Sequence        UniProt:Q8IYW5 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Funding         Finnish Academy
Comments        sequence entry reference in every entry
//
ID              @A133X143(1),#K441X486(1); standard; MUTATION;
Accession       R0001
Systematic name Allele 1: g.17152_17153insG, c.397_398insG, r.397_398insg,
Systematic name p.Ala133fsX11
Systematic name Allele 2: g.32500_32503delACAA, c.1323_1326delACAA,
Systematic name r.1323_1326delacaa, p.Gln442fsX45
Description     Allele 1: A frame shift insertion mutation in the exon 3
Description     leading to a premature stop codon
Description     Allele 2: A frame shift deletion mutation in the exon 6
Description     leading to a premature stop codon
Date            14-Oct-2010 (Rel. 1, Created)
Date            14-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19203578
RefAuthors      Stewart, G. S., Panier, S., Townsend, K., Al-Hakim, A. K., 
RefAuthors      Kolas, N. K., Miller, E. S., Nakada, S., Ylanko, J., 
RefAuthors      Olivarius, S., Mendez, M., Oldreive, C., Wildenhain, J., 
RefAuthors      Tagliaferro, A., Pelletier, L., Taubenheim, N., Durandy, 
RefAuthors      A., Byrd, P. J., Stankovic, T., Taylor, A. M., Durocher, 
RefAuthors      D.
RefTitle        The RIDDLE syndrome protein mediates a ubiquitin-dependent 
RefTitle        signaling cascade at sites of DNA damage.
RefLoc          Cell:420-434 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IdRefSeq: D0136: 17153
Feature           /change: +g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IdRefSeq: C0136; GI:300863109; : 993
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q8IYW5; RNF168_HUMAN: 133
Feature           /change: A -> GQRGRRKQSQ X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IdRefSeq: D0136: 32500..32503
Feature           /change: -acaa
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IdRefSeq: C0136; GI:300863109; : 1918..1921
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q8IYW5; RNF168_HUMAN: 441..442
Feature           /change: KQ -> 
Feature           /change: KKNRTGYWHY NFRRRWIKSK WCQTGKKDPQ MSITYALHPP
Feature           /change: LQTKCX
//