UQCRC2 R183Q - GET-Evidence

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

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Curation:
Currentness:

UQCRC2 R183Q

(UQCRC2 Arg183Gln)


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 @ chr16:21976762: 3.8% (404/10758) in EVS
  • A @ chr16:21884262: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 3.8% (404/10758)

Publications
 

Genomes
 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr16:21976762

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr16:21884263

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr16:21884263

 

Other external references
 

    dbSNP
  • rs4850
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.697 (possibly damaging)
    Web search results (7 hits -- see all)
  • UQCRC2 Gene - GeneCards | QCR2 Protein | QCR2 Antibody
    UQCRC2 Gene in genomic location: bands according to Ensembl, locations according ... from Abnova (UQCRC2) Novus Biologicals Antibodies for UQCRC2 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=UQCRC2
  • Cytochrome b-c1 complex subunit 2, mitochondrial precursor ...
    UQCRC2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2 ...
    www.uniprot.org/uniprot/P22695
  • AceView: Gene:UQCRC2, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=UQCRC2
  • HMDB01072.txt
    ... ubiquinol, is a biologically active quinone with an isoprenoid side chain, ... endoplasmic reticulum, peroxisomes, lysosomes, vesicles and notably the inner ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB01072.txt
  • HMDB01060.txt
    ... ubiquinol(8) # Chemical_IUPAC_Name: 2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27, ... rs3840850; rs12920057; rs2968405; rs4783437; rs4850; rs8043580; rs8050019; ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB01060.txt
  • HMDB01072.txt
    # Accession_No: HMDB01072 # Creation_Date: 2005-11-16 15:48:42 # Update_Date: ... related in structure to vitamin K and vitamin E. -- Wikipedia; CoQ is found in ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB01072.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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