ACADM T96I - GET-Evidence

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

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Curation:
Currentness:

ACADM T96I

(ACADM Thr96Ile)


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 (9 hits -- see all)
  • OMIM 607008 - Acil CoA deidrogenasi a catena media; ACADM
    Kidd ed altri (1990) dimostrarono estensiva polimorfismo in ACADM. ... e dimostrarono che the codificate T96I mutante ICAD proteina aveva una low ma ...
    www.fonama.org/i_omim/mito6/i_607008.html
  • doi:10.1086/511992
    a c.362CrT (T96I) disease-associated missense mutation, are entirely ... and demonstrated that the encoded T96I mutant MCAD. protein had a low but detectable level ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Seemingly Neutral Polymorphic Variants May Confer Immunity to ...
    Published online 2007 January 18. PMCID: PMC1821120. Copyright © 2007 by The American ... that the encoded T96I mutant MCAD protein had a low but detectable level of ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1821120/?tool=pmcentrez
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... IKK (0.804) NIDDM 10206679 ACADM P11310 S336R 336 VAR_000326 CAMKL (0. ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • 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 = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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