PRKDC M333I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

PRKDC M333I

(PRKDC Met333Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr8:48852225: 3.2% (302/9542) in EVS
  • T @ chr8:49014777: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (302/9542)

Publications
 

Genomes
 

 

 

 

 

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr8:49014778

 

Other external references
 

    dbSNP
  • rs8178017
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • PRKDC Gene - GeneCards | PRKDC Protein | PRKDC Antibody
    EntrezGene summary for PRKDC: The PRKDC gene encodes the catalytic ... trigger its kinase activity; PRKDC must be bound to DNA to express its catalytic ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=PRKDC
  • DNA-dependent protein kinase catalytic subunit - Homo sapiens ...
    DNA-PK is a heterotrimer of PRKDC and the Ku p70-p86 (XRCC6-XRCC5) dimer. ... PRKDC alone also interacts with and phosphorylates DCLRE1C, thereby activating ...
    www.uniprot.org/uniprot/P78527
  • Mutational Analysis of Thirty-two Double-Strand DNA Break ...
    Mutation screening of DNA damage repair genes in breast and pancreatic cancers ... (PRKDC), only 69 of 86 coding exons were completed. NA: rs7830743, rs8178216, rs8178017 ...
    cancerres.aacrjournals.org/cgi/content/full/68/4/971/TBL1
  • Entry View
    DNA-PK is a heterotrimer of PRKDC and the Ku p70-p86 (XRCC6-XRCC5) ... PRKDC alone also interacts with and phosphorylates DCLRE1C, thereby activating ...
    srs.dna.affrc.go.jp/srs8/srs?-e+[uniprot_swissprot-accnum...
  • UniProt: P78527
    ... "Frameshift mutation in PRKDC, the gene for DNA-PKcs, in the DNA RT ... Knippers R.; RT "MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are RT close neighbours ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P78527

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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