CASQ2 T66A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

CASQ2 T66A

(CASQ2 Thr66Ala)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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

 

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

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom 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

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
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

 

Added in this revision:

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

 

NA12878

 

NA18507

 

NA18517

 

NA18956

 

NA19129

 

snp-1

 

snp-29

 

snp-3

 

snp-31

 

snp-5

 

snp-6

 

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":

Log in