GRIN3B A845T - GET-Evidence

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

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Curation:
Currentness:

GRIN3B A845T

(GRIN3B Ala845Thr)


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

  • A @ chr19:1008683: 12.7% (1370/10754) in EVS
  • A @ chr19:959682: 5.8% (6/104) in GET-Evidence
  • Frequency shown in summary reports: 12.7% (1370/10754)

Publications
 

Genomes
 

hu0D879F

 

 

 

 

 

 

 

 

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr19:959683

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr19:959683

 

Other external references
 

    dbSNP
  • rs2285906
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.137 (benign)
    Web search results (7 hits -- see all)
  • GRIN3B Gene - GeneCards | NMD3B Protein | NMD3B Antibody
    summary for GRIN3B: NMDA receptors are members of the ionotropic class of glutamate ... GRIN3B Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GRIN3B
  • Motoneuron-specific NR3B gene
    pared the GRIN3B coding sequence in primates (human–macaque) and rodents (rat ... sporadic ALS, 2) the GRIN3B null allele is a common polymorphism, 3) the GRIN3B ...
    glutamate.brain.riken.jp/dokuwiki/lib/exe/fetch.php?...
  • DOI: 10.1212/01.wnl.0000271078.51280.17 2008;70;666-676 ...
    pared the GRIN3B coding sequence in primates (human–macaque) and rodents (rat ... sporadic ALS, 2) the GRIN3B null allele is a common polymorphism, 3) the GRIN3B ...
    info.med.yale.edu/genetics/kkidd/462.pdf
  • Glutamate [NMDA] receptor subunit 3B precursor - Homo sapiens ...
    GRIN3B. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... and a third subunit (GRIN3A or GRIN3B). Does not form functional homomeric channels. ...
    www.uniprot.org/uniprot/O60391
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • UniProt: NMD3B_HUMAN
    AC O60391; Q5EAK7; Q7RTW9; DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot. ... GRIN2B, GRIN2C or GRIN2D) and a third CC subunit (GRIN3A or GRIN3B) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:NMD3B_HUMAN
  • Identification of Genetic Polymorphic Variants Associated ...
    Methods of predicting effective pharmacological therapies for a subject ... Methods of predicting susceptibility of a subject to develop somatosensory disorders by ...
    www.faqs.org/patents/app/20090253585

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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