GAD2 P153Q - 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:

GAD2 P153Q

(GAD2 Pro153Gln)


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 @ chr10:26508143: 0.5% (54/10758) in EVS
  • Frequency shown in summary reports: 0.5% (54/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.416 (possibly damaging)
    Web search results (24 hits -- see all)
  • date variant label type origin 5 prime 3 prime observed build ...
    ... Hs10 26668718 26668718 1 1 NA (NA) GAD2 2572 NA NA 2003-11-06 DIL166 GAD ... Hs10 26709809 26709809 1 1 NA (NA) GAD2 2572 NA NA 2003-11-06 DIL167 GAD ...
    www-gene.cimr.cam.ac.uk/todd/.../GAD2/gad2-Hs10-support.tab
  • 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
  • [dbSNP submission]
    ... origin 5_prime observed 3_prime build chromosome start end strand mapweight 2006-06-06 DIL165 ss4020968 rs2839672 GAD A, 2414 C>A substitution ...
    www-gene.cimr.cam.ac.uk/todd/.../johnson:gad2:2002.tab
  • Glutamate decarboxylase 2 - Homo sapiens (Human)
    GAD2. Synonyms: GAD65. Organism. Homo sapiens (Human) [Complete proteome] ... of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 ...
    www.uniprot.org/uniprot/Q05329
  • HMDB00148.txt
    Glutamic acid is the most common excitatory neurotransmitter in the ... Synonyms: (2S)-2-Aminopentanedioic acid; (S)-(+)-Glutamic acid; (S)-2-Aminopentanedioic ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00148.txt
  • HMDB00115.txt
    ... Glycolic acid; a-Hydroxyacetic acid; 2-Hydroxyacetic acid; GlyPure; GlyPure 70; ... rs2839673; rs2839678; rs2839672; rs7919405; rs1805397; rs1556234; rs2229845; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00115.txt
  • HMDB00056.txt
    It is a component of the naturally occurring peptides carnosine and ... which itself is a component of coenzyme A. Under normal conditions, beta-alanine ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00056.txt
  • GAD2 Gene - GeneCards | DCE2 Protein | DCE2 Antibody
    GAD2 Gene in genomic location: bands according to Ensembl, locations according ... Antibodies for GAD2. R&D Systems Antibodies for GAD2 (GAD2/GAD65) Cell ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GAD2&snp=548
  • Mooney Lab - MutDB
    GAD2. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs2839672. 152. P Q. NCBI. In dbsnp. None. 0.02. DBSNP:rs2839673. 231 ...
    mutdb.org/cgi-bin/mutdb.pl?id=GAD2&geneid=2572
  • HMDB00191.txt
    It is found in animals and plants, especially in sugar cane and sugar beets. ... GAD2 # Metabolic_Enzyme_1_Protein_Sequence: >Glutamate decarboxylase, 65 kDa ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00191.txt

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in