CES1 D204E - 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.

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Curation:
Currentness:

CES1 D204E

(CES1 Asp204Glu)


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

  • T @ chr16:55855361: 5.0% (535/10758) in EVS
  • T @ chr16:54412861: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (535/10758)

Publications
 

Genomes
 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr16:55855361

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr16:55855361

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr16:54412862

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr16:54412862

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr16:54412862

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr16:54412862

 

Other external references
 

    dbSNP
  • rs2307227
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (18 hits -- see all)
  • CES1 Gene - GeneCards | EST1 Protein | EST1 Antibody
    R&D Systems Recombinant & Natural Proteins for CES1 (Carboxylesterase 1/CES1) ... for CES1. R&D Systems Antibodies for CES1 (Carboxylesterase 1/CES1) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CES1
  • 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
  • Liver carboxylesterase 1 precursor - Homo sapiens (Human)
    D E: dbSNP rs2307227. VAR_014595. Natural variant. 362. 1. Missing. VAR_002358. Experimental ... of human carboxylesterase 1(CES1) genes, which are difference in ...
    www.uniprot.org/uniprot/P23141
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: CES1 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=CES1&geneid=1066
  • TaqMan® Drug Metabolizing Genotyping Assay Index File (.xls)
    Assay ID Gene Symbol Gene Symbol Alias Allele Nomenclature Polymorphism Amino ... Frequency Caucasian Minor Allele Frequency African American Minor Allele ...
    appliedbiosystems.com/cms/groups/portal/.../cms_055246.xls
  • (TXT 905 KB)
    ... Location on NCBI Assembly NCBI Assembly Build Cytogenetic Band Chromosome Minor ... Japanese Minor Allele Frequency Chinese Species C___1253826_10 ABCB1 ...
    appliedbiosystems.com/cms/groups/portal/.../cms_055247.txt
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: CES1 Variant: NM_001025195 ... CES1. Exons: 14. Mutation List. Back to top. Source ID. AA Position (help? ...
    mutdb.org/cgi-bin/mutdb.pl?id=CES1&geneid=1066&...
  • Entry View
    P82127 Q00015 Q13657 Q14062 Q16737 Q16788 Q549X7 Q549X8 Q86UK2 Q96EE8 Q9UK77 ... of human carboxylesterase 1(CES1) genes, which are difference in regulation at ...
    srs.dna.affrc.go.jp/srs8/srs?-e+[uniprot_swissprot-accnum...
  • HMDB00507.txt
    ... ol; 3-Epicholesterol; 3a-Cholesterol; 3a-Hydroxycholest-5-ene; epicholesterol; ... Metabolic_Enzyme_2_Gene_Name: CES1 # Metabolic_Enzyme_2_Protein_Sequence: > ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00507.txt
  • HMDB00507.txt
    ... Metabolic_Enzyme_2_Gene_Name: CES1 # Metabolic_Enzyme_2_Protein_Sequence: >Liver ... rs2307240; rs2307227; rs4513095; rs2307244; rs2397780; rs9921399; rs1814268; ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00507.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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