ACADS R171W - GET-Evidence

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

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Curation:
Currentness:

ACADS R171W

(ACADS Arg171Trp)


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 @ chr12:121175678: 3.4% (362/10758) in EVS
  • Frequency shown in summary reports: 3.4% (362/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr12:121175678

 

Other external references
 

    dbSNP
  • rs1800556
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.587 (possibly damaging)
    Web search results (4 hits -- see all)
  • Genetic Variation in an Individual Human Exome
    J. Craig Venter Institute, Rockville, Maryland, United States of ... R171W. ACADS with 171W has residual activity (45%). Because this is polymorphic in the ...
    univie.ac.at/nutrigenomics/.../WS0910/Genetic_variation.pdf
  • EC 1.3.99.2 - butyryl-CoA dehydrogenase
    R171W. Homo sapiens. mutant shows a temperature-dependent production of ... The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=1.3.99.2
  • UF > HOS 4304 > Ng08 (2009-01-10 18:36:56)
    Variation Genetic in an Individual Human Exome Pauline C. Ng*, Samuel Levy, ... protein function.d rs1800556 R171W ACADS MAF = 0.17 ACADS with 171W has residual ...
    www.coursehero.com/file/888596/Ng08

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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