ACADM T168A - GET-Evidence

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

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Curation:
Currentness:

ACADM T168A

(ACADM Thr168Ala)


You are viewing the latest version of this page, saved on January 5, 2010 at 10:42pm by OMIM Importing Robot.

Edited in this revision:

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (8 hits -- see all)
  • Protein misfolding is the molecular mechanism underlying ...
    Previous studies characterizing the molecular phenotype of T168A (c.577A>G), a mutation that has been ... The cDNA of human ACADM gene (ACADM-encoding pKK223 plasmid obtained ...
    hmg.oxfordjournals.org/cgi/content/full/18/9/1612
  • OMIM 607008 - Acil CoA deidrogenasi a catena media; ACADM
    Kidd ed altri (1990) dimostrarono estensiva polimorfismo in ACADM. ... (1999) dichiararono che what set the T168A mutazione apart da tutti altri precedentemente ...
    www.fonama.org/i_omim/mito6/i_607008.html
  • Type I- 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... (0.789) PMC 1338909 MT-ND1 P03886 T168A 168 VAR_011347 PIKK (0.996) 7530363 OR5H15 A6NDH6 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... IKK (0.804) NIDDM 10206679 ACADM P11310 S336R 336 VAR_000326 CAMKL (0. ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Biochemical characterization of a variant human medium-chain ...
    Finally, the detailed insight into how ACADM missense mutations induce loss of MCAD function may provide ... With the T168A-MCAD and A282V-i3VD mutants, however, the diminished ...
    lib.bioinfo.pl/pmid:9882619
  • ACADM Gene, ACADM Transcript, ACADM Protein, and ACADM ...
    Homo sapiens. This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes ...
    refgene.com/gene/34
  • OMIM: 607008
    MAPPING Matsubara et al. (1986) mapped the ACADM gene to 1p31 by Southern analysis of DNA ... in ACADM. With linkage studies, they showed that the ACADM locus is ...
    www.genome.jp/dbget-bin/www_bget?mim:607008

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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