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 November 29, 2012 at 6:39am 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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr1:116310967

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr1:116310967

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr1:116310967

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr1:116310967

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr1:116310967

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:116310967

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:116310967

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr1:116310967

 

Added in this revision:

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr1:116310967

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr1:116310967

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr1:116310967

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr1:116310967

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr1:116310967

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr1:116310967

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr1:116310967

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr1:116310967

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr1:116112490

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr1:116112490

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr1:116112490

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr1:116112490

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr1:116112490

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr1:116112490

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr1:116112490

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr1:116112490

 

GS18517 - var-GS18517-1100-36-ASM
het TGC @ chr1:116112488

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr1:116112490

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr1:116112490

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:116112490

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr1:116112490

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr1:116112490

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr1:116112490

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr1:116112490

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr1:116112490

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr1:116112490

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr1:116112490

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr1:116112490

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr1:116112490

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr1:116112490

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:116112490

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr1:116112490

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr1:116112490

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr1:116112490

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr1:116112490

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr1:116112490

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:116112490

 

Other external references
 

    dbSNP
  • rs74114618
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs4074536
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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