Database PRKDCbase
Version 1.0
File prkdcpub.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/PRKDCbase/
Gene PRKDC
Disease T–B– Severe Combined Immunodeficiency
OMIM 600899
Sequence IdRefSeq:D0129; IdRefSeq:C0129;
Sequence UniProt:Q9UME3
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
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ID #G2113-1/L3062R(1),#G2113-1/L3062R(1); standard; MUTATION;
Accession P0001
Systematic name Allele 1 and 2: g.[102327_102329delGAG;140313T>G],
Systematic name c.[6338_6340delGAG;9185T>G], r.[6338_6340delgag;9185u>g],
Systematic name p.[Gly2113del;Leu3062Arg]
Original code ID177
Description Allele 1 and 2: An inframe deletion in the exon 47 leading
Description to an amino acid change and a point mutation in exon 66
Description leading to an amino acid change
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19075392
RefAuthors van der Burg, M., Ijspeert, H., Verkaik, N. S., Turul, T.,
RefAuthors Wiegant, W. W., Morotomi-Yano, K., Mari, P. O., Tezcan,
RefAuthors I., Chen, D. J., Zdzienicka, M. Z., van Dongen, J. J., van
RefAuthors Gent, D. C.
RefTitle A DNA-PKcs mutation in a radiosensitive T-B- SCID patient
RefTitle inhibits artemis activation and nonhomologous end-joining.
RefLoc J Clin Invest:91-98 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: deletion
Feature /loc: IDRefSeq: D0129: 102327..102329
Feature /change: -gag
Feature /genomic_region: exon; 47
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0129: 140313
Feature /change: t -> g
Feature /genomic_region: exon; 66
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0129; GI:31340617; PRKDCC: 6395..6397
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0129; GI:31340617; PRKDCC: 9242
Feature /codon: ctg -> cgg; 2
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: Q9UME3; PRKDC_HUMAN: 2113..2114
Feature /change: GE -> E
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: Q9UME3; PRKDC_HUMAN: 3062
Feature /change: L -> R
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: deletion
Feature /loc: IDRefSeq: D0129: 102327..102329
Feature /change: -gag
Feature /genomic_region: exon; 47
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0129: 140313
Feature /change: t -> g
Feature /genomic_region: exon; 66
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0129; GI:31340617; PRKDCC: 6395..6397
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: missense
Feature /loc: IDRefSeq: C0129; GI:31340617; PRKDCC: 9242
Feature /codon: ctg -> cgg; 2
Feature aa; 11
Feature /rnalink: 9
Feature /name: deletion; inframe
Feature /loc: UniProt: Q9UME3; PRKDC_HUMAN: 2113..2114
Feature /change: GE -> E
Feature aa; 12
Feature /rnalink: 10
Feature /name: aa substitution
Feature /loc: UniProt: Q9UME3; PRKDC_HUMAN: 3062
Feature /change: L -> R
Symptoms Oral candidiasis; Respiratory distress;
Symptoms Oral aphthous lesion;
Sex XX
Ethnic origin Turkey
Parents Consanguineous
Comment A male sibling of the patient died of congenital heart
Comment defect at 3 years age
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