ACOT4 A187D - GET-Evidence

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

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Curation:
Currentness:

ACOT4 A187D

(ACOT4 Ala187Asp)


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 @ chr14:74060508: 6.9% (741/10754) in EVS
  • A @ chr14:73130260: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (741/10754)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:74060508

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr14:74060508

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr14:74060508

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:74060508

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr14:74060508

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom A @ chr14:74060508

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr14:74060508

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr14:74060508

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr14:74060508

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr14:73130261

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr14:73130261

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr14:73130261

 

Other external references
 

    dbSNP
  • rs35724886
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.993 (probably damaging)
    Web search results (10 hits -- see all)
  • ACOT4 Gene - GeneCards | ACOT4 Protein | ACOT4 Antibody
    ACOT4 Gene in genomic location: bands according to Ensembl, locations ... for ACOT4 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT4
  • AceView: Gene:ACOT4, 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=PTE2B
  • Acyl-coenzyme A thioesterase 4 - Homo sapiens (Human)
    Human ACOT4 may have acquired the combined activities of mouse ACOT3, ... A D: dbSNP rs35724886. VAR_052301. Experimental info. Sequence conflict. 130. 1. L P in ...
    www.uniprot.org/uniprot/Q8N9L9
  • UniProt: ACOT4_HUMAN
    AC Q8N9L9; Q17RF4; Q5BKT6; Q86TX0; Q86TX1; Q96N88; DT 19-JUL-2004, integrated into ... Human ACOT4 may have acquired the combined CC activities of mouse ACOT3, ACOT4, and ACOT5. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:ACOT4_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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