Dtabase         RAD50base
Version         1.0
File            rad50pub.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/RAD50base/
Gene            RAD50
Disease         Nijmegen breakage syndrome-like disorder
OMIM            604040
Sequence        IdRefSeq:D0132; IdRefSeq:C0132; 
Sequence        UniProt:Q92878 
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              R1093X(1),@X1313+66(1); standard; MUTATION;
Accession       R0001
Systematic name Allele 1: g.62245C>T, c.3277C>T, r.3277c>u, p.Arg1093X
Systematic name Allele 2: g.86427A>T, c.3939A>T, r.3939a>u, p.1313
Description     Allele 1: A point mutation in the exon 21 leading to a
Description     premature stop codon
Description     Allele 2: A point mutation in the exon 25 leading to an
Description     amino acid change
Date            04-Oct-2010 (Rel. 1, Created)
Date            04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19409520
RefAuthors      Waltes, R., Kalb, R., Gatei, M., Kijas, A. W., Stumm, M., 
RefAuthors      Sobeck, A., Wieland, B., Varon, R., Lerenthal, Y., Lavin, 
RefAuthors      M. F., Schindler, D., Dork, T.
RefTitle        Human RAD50 deficiency in a nijmegen breakage syndrome-
RefTitle        like disorder.
RefLoc          Am J Hum Genet:605-616 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IdRefSeq: D0132: 62245
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IdRefSeq: C0132; GI:295442468; : 3678
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q92878; RAD50_HUMAN: 1093
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IdRefSeq: D0132: 86427
Feature           /change: a -> t
Feature           /genomic_region: exon; 25
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: terminator
Feature           /loc: IdRefSeq: C0132; GI:295442468; : 4340
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: elongation
Feature           /loc: UniProt: Q92878; RAD50_HUMAN: 1313
Feature           /change: X -> 
Feature           /change: YKYPRFKCHR NVGPQKVYNK KLISHINLVN KKIYSFKGTL
Feature           /change: CLGFWMLRGS KIMKLVSLKI GQIACFX
Symptoms        Microcephaly; Growth retardation; Mild spasticity;
Symptoms        Bird-like face; Massive hyperopia; Skin hyper- and
Symptoms        hypopigmentation;
Sex             XX
Ethnic origin   Germany
Parents         Non-consanguineous
//