CASQ2 T66A - GET-Evidence

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

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Curation:
Currentness:

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CASQ2 T66A

(CASQ2 Thr66Ala)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

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

  • C @ chr1:116310967: 34.2% (3683/10758) in EVS
  • CGC,TGC @ chr1:116112487: 44.5% (57/128) in GET-Evidence
  • Frequency shown in summary reports: 34.2% (3683/10758)

Publications
 

Genomes
 

NA12878

 

NA18507

 

NA18517

 

NA18956

 

NA19129

 

snp-1

 

snp-3

 

Added in this revision:

snp-5

 

Other external references
 

    GeneTests
  • GeneTests records for the CASQ2 gene
    Catecholaminergic Polymorphic Ventricular Tachycardia
    CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycar
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASQ2
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (30 hits -- see all)
  • Molecular genetics of exercise-induced polymorphic ...
    Molecular genetics of exercise-induced polymorphic ventricular ... in the CASQ2 gene, the molecular screening revealed two novel amino-acid polymorphisms (T66A and V76M) ...
    www.ncbi.nlm.nih.gov/pubmed/14571276
  • European Journal of Human Genetics - Abstract of article ...
    European Journal of Human Genetics (2003) 11, 888–891. doi:10.1038/sj.ejhg.5201061 ... CASQ2 gene, the molecular screening revealed two novel amino-acid polymorphisms (T66A and ...
    www.nature.com/ejhg/journal/v11/n11/abs/5201061a.html
  • SNPs Identified in CASQ2
    T66A. A/G. Download a spreadsheet containing this information for all ... and Genotyping > Candidate Gene List > CASQ2 Main Page > SNPs Identified in CASQ2 ...
    cardiogenomics.med.harvard.edu/.../CASQ2_validated_SNPs.html
  • GENETIC DEFECTS OF CALCIUM AND POTASSIUM SIGNALING IN ...
    RYR2 and CASQ2 form a complex. through triadin and junctin (Figure 4) ... ryanodine receptor, type 2; CASQ2, gene for calsequestrin 2; BS, Brugada ...
    ethesis.helsinki.fi/julkaisut/laa/.../laitinen2/geneticd.pdf
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • NCSTL
    Genetic Variability of RyR2 and CASQ2 Genes in an Asian Population ... CASQ2 polymorphisms; 196A>G (T66A) and 226G>A (V76M) and one novel CASQ2 ...
    www.ncstl.org/search/results/view/97396?mode=print
  • Chui, P (Paul)
    Chui, P (Paul) :: Lung pathology of severe acute respiratory syndrome (SARS): a study of ... CASQ2 polymorphisms; 196A>G (T66A) and 226G>A (V76M) and one novel CASQ2 ...
    lib.bioinfo.pl/auid:2163920

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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