MEFV M680I - GET-Evidence

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

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Curation:
Currentness:

MEFV M680I

(MEFV Met680Ile)


You are viewing the latest version of this page, saved on May 21, 2010 at 12:10am by Counsyl Test Importing Robot.

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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

  • G @ chr16:3293447: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.527 (possibly damaging)
    Web search results (426 hits -- see all)
  • The Turkish Journal of Gastroenterology
    M680I, M694V, and V726A mutations were analyzed by amplification refractory mutation system (ARMS)-PCR technique. The MEFV region covering three ...
    www.turkgastro.org/text.php?id=401
  • BioMed Central | Full text | Familial Mediterranean fever ...
    The results demonstrated the presence of an MEFV missense mutation (M680I) on one allele. ... M680I Missense Mutation. Illustration of the unspliced MEFV gene ...
    www.biomedcentral.com/1471-2369/4/6
  • BMC Nephrology
    FMF gene locus, MEFV, was discovered to encode for a protein, pyrin ... M680I Missense Mutation. Illustration of the unspliced MEFV gene locus with exons 1–10 ...
    www.biomedcentral.com/content/pdf/1471-2369-4-6.pdf
  • The differential contribution of MEFV mutant alleles to the ...
    The differential contribution of MEFV mutant alleles to the clinical profile of ... predominant MEFV mutations and exclusively display the M680I mutation. ...
    www.nature.com/ejhg/journal/v10/n2/full/5200776a.html
  • Familial Mediterranean fever, Inflammation and Nephrotic ...
    The results demonstrated the presence of an MEFV missense mutation (M680I) on one allele. ... M680I Missense Mutation. Illustration of the unspliced MEFV gene ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC194618
  • Familial Mediterranean fever and systemic amyloidosis in ...
    The seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q)were ... Akar N, TuÈmer N. MEFV mutations in multiplex families with ...
    qjmed.oxfordjournals.org/cgi/reprint/93/10/681.pdf
  • FMF 2005
    Presence of two mutations of MEFV gene in asymptomatic carriers is not a very ... but appeared asymptomatic carrier of two mutations of MEFV gene (E148Q/M680I) ...
    niams.nih.gov/News_and_Events/Meetings_and_Events/...?ID=213
  • Association of FMF-Related (MEFV) Point Mutations with ...
    Methods: In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n ...
    content.karger.com/ProdukteDB/produkte.asp?Doi=77375
  • Familial Mediterranean Fever, Type 1 Diabetes - Prof.Dr ...
    Doktor, Diş Hekimi, Veteriner, Diyetisyen, Psikolog tavsiye portalı ... known FMF gene (MEFV) mutations on. chromosome 16. The mutation, M680I, was identified in ...
    www.tavsiyeediyorum.com/makale_1671.htm
  • Diagnosis of Familial Mediterranean Fever by a Molecular ...
    Mediterranean fever gene, designated MEFV, was recently. cloned, and at least three missense mutations (M680I, ... mutations by sequencing, none had MEFV mutations ac ...
    www.annals.org/content/129/7/539.full.pdf+html

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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