MTHFR R594Q - GET-Evidence

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

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Curation:
Currentness:

MTHFR R594Q

(MTHFR Arg594Gln)


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

  • T @ chr1:11850927: 4.0% (435/10758) in EVS
  • T @ chr1:11773513: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.0% (435/10758)

Publications
 

Shen H, Newmann AS, Hu Z, Zhang Z, Xu Y, Wang L, Hu X, Guo J, Wang X, Wei Q. Methylenetetrahydrofolate reductase polymorphisms/haplotypes and risk of gastric cancer: a case-control analysis in China. Oncol Rep. 2005 Feb;13(2):355-60. PubMed PMID: 15643524.

 

Genomes
 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr1:11850927

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr1:11773514

 

Other external references
 

    dbSNP
  • rs2274976
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Stomach Neoplasms]
    In a case control study of Asian gastric cancer (n=633), individuals with 6 variant alleles of three MTHFR common variants (i.e. C677T, A1298C and G1793A) were at increased risk for gastric cardia adenocarcinoma (OR =4.64, 95% CI =1.34-16.01) compared with those having 0-2 variants.
    www.ncbi.nlm.nih.gov/pubmed/15643524
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (28 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
  • MTHFR - SNPedia
    rs2274976, also known as R594Q. It is likely that there are numerous other variations that are much rarer. When the MTHFR genes of 564 individuals ...
    www.snpedia.com/index.php/MTHFR
  • The prevalence of folate-remedial MTHFR enzyme variants in humans
    We have used MTHFR as a prototype vitamin-dependent enzyme to answer several questions ... ( 19) reported that the common R594Q variant in the C-terminal domain ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2430358
  • The prevalence of folate-remedial MTHFR enzyme variants in humans
    The prevalence of folate-remedial MTHFR enzyme variants in humans. ... with common variants (A222V E429A and A222V R594Q), we observed minor allele homozygotes for at least ...
    scribd.com/doc/3222775/The-prevalence-of-folateremedial-MTHFR...
  • Development of lung cancer before the age of 50: the role of ...
    MTHFR: 1298A>C–E429A. rs1801131. 153. 140. 111. 136. 0.76 (0.53–1.10) 29. 33 ... 25. 2.32 (1.23–4.37) 0.01. MTHFR: G1793A–R594Q. rs2274976. 266. 285. 20. 25 ...
    carcin.oxfordjournals.org/cgi/content/full/28/6/1287/TBL4
  • 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
  • Optimizing Health outcomes using mapped personal genome ...
    The absense of this enzyme, as seen with the MTHFR polymorphism, means that folate ... rs2274976, also known as R594Q. It is likely that there are numerous other variations that ...
    www.imminst.org/forum/index.php?act=findpost&pid=243704
  • Table 4
    MTHFR. C677T. A1298C. A1793G. A222V. E429 A. R594Q [140] N.R. 2. CBS. 31 bp ... A 28-bp repeat (Enhancer region) A 6-bp deletion (3'UTR) [124,125] ...
    www.lipidworld.com/content/5/1/1/table/T4
  • Génétique moléculaire de MTHFR : les polymorphismes ne sont ...
    Les Éditions EDK publient des livres et des revues scientifiques et médicaux destinés aux chercheurs, médecins hospitaliers, universitaires, étudiants
    edk.fr/reserve/revues/ms_papier/e-docs/00/00/0A/8C/...
  • Génétique moléculaire de MTHFR : les polymorphismes ne sont ...
    Génétique moléculaire de MTHFR : les polymorphismes ne sont pas tous bénins ... La MTHFR est une importante enzyme régulatrice du métabolisme des ...
    edk.fr/reserve/print/e-docs/00/00/0A/8C/document_article.md

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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