ACADM K304E - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ACADM K304E

(ACADM Lys304Glu)


Short summary

This variant is causative for Medium-chain acyl-CoA dehydrogenase deficiency.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability 5

Used for Newborn Screening

See unpublished research (below).

Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mcad and http://mchb.hrsa.gov/screening/summary.htm

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (85 hits -- see all)
  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ...
    Both mutation analysis for the common K304E allele and sequence analysis to detect rarer ... common ACADM mutation (K304E) or have two non-K304E mutations ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mcad
  • ACADM - Wikipedia, the free encyclopedia
    The ACADM enzyme functions in mitochondria, the energy-producing ... of amino acids (also written as Lys304Glu or K304E). This mutation and other amino acid ...
    en.wikipedia.org/wiki/ACADM
  • Protein misfolding is the molecular mechanism underlying ...
    K304E and few other missense mutations identified in symptomatic patients were previously ... The cDNA of human ACADM gene (ACADM-encoding pKK223 plasmid obtained ...
    hmg.oxfordjournals.org/cgi/content/full/18/9/1612
  • MitoSciences: MetaPath™ Fatty Acid Oxidation 4-Plex Dipstick ...
    Untransformed fibroblasts cell lines cultured from patients with lipid metabolism disorders were analyzed by ... of the prevalent MCAD mutation K304E, 985A-G) in the ACADM gene. ...
    www.mitosciences.com/metapath_dipstick_fao_array.html
  • ACADM - acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight ...
    The ACADM gene is also known by other names, listed below. ... The ACADM gene provides instructions for making an enzyme called medium-chain acyl ...
    ghr.nlm.nih.gov/gene=acadm
  • Excel
    ACADM. ACADM. ACADM. 9. Mutation. K304E/K304E. K304E/K304E. K304E/K304E ... K304E/K304E. K304E/K304E. K304E/? 10. Growth and Development: 11. diarrhea. 12 ...
    ccr.coriell.org/Excel/NIGMS/mcad.xls
  • Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Common ...
    Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Common Mutation Panel ... All K304E or Y42H mutant alleles will be detected by this assay. ...
    genetics.emory.edu/egl/test.php?test_id=50
  • OMIM 607008 - Acil CoA deidrogenasi a catena media; ACADM
    Dopo ulteriore incubazione, K304E decayed più rapidamente than did di tipo selvatico, ... K304E era più comune, accounting per 47.5% di mutante ACADM alleli. ...
    www.fonama.org/i_omim/mito6/i_607008.html
  • Search by disease
    A -B -C -D -E -F -G -H -I -J -K -L -M -N -O -P -Q -R -S -T -U -V -W -X -Y - Z ... MCAD Deficiency (ACADM) 83: MCAD deficiency, mutation K304E. 84: Mcardle disease. 85: ...
    www.eddnal.com/directory/disease.php?letter=M&page=6
  • GeneDx :: Tests :: Medium-Chain Acyl-CoA Dehydrogenase (MCAD ...
    MCAD is a disorder of fatty acid oxidation caused by mutations in the ACADM gene. ... The K304E missense mutation accounts for up to 85% of mutant ACADM alleles, ...
    www.genedx.com/services/dis_mca.php

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in