MTHFR F435F - GET-Evidence

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

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Curation:
Currentness:

MTHFR F435F

(MTHFR Phe435Phe)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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
 

Hughes LB, Beasley TM, Patel H, Tiwari HK, Morgan SL, Baggott JE, Saag KG, McNicholl J, Moreland LW, Alarcón GS, Bridges SL Jr. Racial or ethnic differences in allele frequencies of single-nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene and their influence on response to methotrexate in rheumatoid arthritis. Ann Rheum Dis. 2006 Sep;65(9):1213-8. Epub 2006 Jan 26. PubMed PMID: 16439441; PubMed Central PMCID: PMC1798268.

 

Genomes
 

Other external references
 

    PharmGKB
  • [Arthritis, Rheumatoid]
    [methotrexate]
    The C allele of this variant was associated with increased risk of toxicity in African American Rheumatoid Arthritis patients receiving methotrexate.
    www.ncbi.nlm.nih.gov/pubmed/16439441
    Web search results (6 hits -- see all)
  • Molecular Biology of Methylenetetrahydrofolate Reductase ...
    The cloning of the MTHFR coding sequence was initially followed by the ... In this chapter, we review the molecular biology of the MTHFR cDNA and gene. ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=eurekah&part=A52348
  • Molecular Biology of Methylenetetrahydrofolate Reductase ...
    ... of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of ... F435F. Exon 7. 48. IVS10+262CG. n/a (intronic) intron 10. 45. 1793GA. R594Q. Exon 11. 49. a Nucleotide numbers are ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?...&id=A52375
  • Impaired Alleles of Genes Involved in Metabolic Pathways and ...
    [0007]5,10-Methylenetetrahydrofolate reductase (MTHFR) is involved in the folate ... of MTHFR have been identified that are associated with clinical MTHFR deficiency, ...
    www.faqs.org/patents/app/20090281061
  • 422.ppt
    Sequenza Esone 8 del gene MTHFR (Ensembl Exon Report) ... ACCGGAATGGTCACAAAgtgagtgatgctggagtggggaccctggttcatcccctgcccc. Id SNP: rs4846051, c.1317 T>C, proteina: F435F ...
    www.liceonorbertorosa.it/admin/media/422.ppt
  • Single-nucleotide polymorphisms in genes relating to ...
    F435F. 4846051. van der Put and. Blom. 20. 0.003 (900) b. c.1697g4A. G566E ... published SNPs (eg MTHFR 665C4T, 1286A4C and 1293C4T correspond to the usual ...
    www.uhkt.cz/files/nrl-dna/5201282a.pdf
  • 424.ppt
    Protocollo PCR per MTHFR c.677C/T. 8.95 ml. 2 ml. 1,2 ml. 0,8 ml. 0,8 ml. 4 ... proteina: F435F. MUTAZIONI. PER MUTAZIONE SI INTENDE LA MODIFICAZIONE DELLA SEQUENZA ...
    www.liceonorbertorosa.it/admin/media/424.ppt

Other in silico analyses
 

  • NBLOSUM100 score = –11
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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