1.5.1.20: methylenetetrahydrofolate reductase [NAD(P)H]
This is an abbreviated version!
For detailed information about methylenetetrahydrofolate reductase [NAD(P)H], go to the full flat file.
Word Map on EC 1.5.1.20
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1.5.1.20
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nitrite
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homocysteine
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medicine
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paracoccus
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assimilatory
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denitrification
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chlorate
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narghi
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resde
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napc
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molybdoenzyme
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pantotrophus
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ammonification
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nutrition
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analysis
- 1.5.1.20
- nitrite
- homocysteine
- medicine
- paracoccus
-
assimilatory
-
denitrification
- chlorate
- narghi
-
resde
- napc
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molybdoenzyme
- pantotrophus
-
ammonification
- nutrition
- analysis
Reaction
Synonyms
10-methylenetetrahydrofolate reductase, 5,10-CH2-H4folate reductase, 5,10-methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (FADH2), 5,10-methylenetetrahydrofolate reductase (NADPH), 5,10-methylenetetrahydrofolic acid reductase, 5,10-methylenetetrahydropteroylglutamate reductase, 5-methylenetetrahydrofolate:NADP+ oxidoreductase, 5-methyltetrahydrofolate:(acceptor) oxidoreductase, 5-methyltetrahydrofolate:NAD oxidoreductase, 5-methyltetrahydrofolate:NAD+ oxidoreductase, 5-methyltetrahydrofolate:NADP+ oxidoreductase, AtMTHFR-1, EC 1.1.1.171, EC 1.1.1.68, EC 1.1.99.15, EC 1.7.99.5, HsMTHFR, MET13, methylenetetrahydrofolate (reduced riboflavin adenine dinucleotide) reductase, methylenetetrahydrofolate reductase, methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolic acid reductase, MetVF-type methylenetetrahydrofolate reductase, More, MTHFR, MTHFR2, N5,10-methylenetetrahydrofolate reductase, N5,N10-methylenetetrahydrofolate reductase, NADH:CH2-H4folate oxidoreductase, NapAB, reductase, methylenetetrahydrofolate (reduced nicotinamide adenine dinucleotide phosphate), reductase, methylenetetrahydrofolate (reduced riboflavin adenine dinucleotide), respiratory nitrate reductase, type II-MTHFR
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1.5.1.20 methylenetetrahydrofolate reductase [NAD(P)H]Advanced search results
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Engineering on EC 1.5.1.20 - methylenetetrahydrofolate reductase [NAD(P)H]
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
A177V
D120A
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site-directed mutagenesis, decreased catalytic efficiency in the folate oxidative half-reaction, loss of negative charge near the flavin, small increasing effects on the NADH reductive half reaction
D120K
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site-directed mutagenesis, decreased catalytic efficiency in the folate oxidative half-reaction, loss of negative charge near the flavin, small increasing effects on the NADH reductive half reaction
D120N
D120S
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site-directed mutagenesis, decreased catalytic efficiency in the folate oxidative half-reaction, loss of negative charge near the flavin, small increasing effects on the NADH reductive half reaction
D120V
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site-directed mutagenesis, decreased catalytic efficiency in the folate oxidative half-reaction, loss of negative charge near the flavin, small increasing effects on the NADH reductive half reaction
E28Q
F223A
mutation impairs both NADH and methylenetetrahydrofolate binding each 40fold and slows catalysis of both half-reactins less than 2fold
F223L
affinity for methylenetetrahydrofolate is unaffeacted. Mutant catalyzes the oxidative half-reaction 3fold faster than wild-type
A1298C
A222V
A677V
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the mutation is accompanied by hyperhomocysteinemia and protein C deficiency
C1141T
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high level of enzyme activity, retains 40% of its activity after 20 min at 55°C
C667T
C677T
E429A
E429D
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the muattion leads to elevated total homocysteine concentration and reduced folate and vitamin B12 levels, but is not associated with the development of bipolar disorders
I225V
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natural polymorphism. Mutation results in an unusual melting curve peak at 53.4°C instead of 51.6°C or 60.4°C in melting curve analysis after real-time polymerase chain reaction
T34A
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complete blocking of phosphorylation of enzyme. Mutant enzyme is more active than wild-type and less sensitive to inhibition by S-adenosylmethionie
A222V
additional information
A177V
mutation does not affect Km or kcat values for NADH or 5,10-methylenetetrahydrofolate
D120N
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mutant with 150fold decreased activity in the physiological NADH-CH2-H4folate oxidoreductase reaction, enzyme is reduced by NADH 30% more rapidly than the wild-type enzyme, it binds methylenetetrahydrofolate in its ring-closed form, but no conversion to the 5-iminium cation, enzyme-bound FAD is more easily reduced and more difficult reoxidized than FAD of wild-type enzyme
D120N
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site-directed mutagenesis, decreased catalytic efficiency in the folate oxidative half-reaction, loss of negative charge near the flavin, small increasing effects on the NADH reductive half reaction
E28Q
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mutant enzyme is unable to catalyze reduction of methylenetetrahydrofolate and is inactive in the physiological NADH-CH2-H4folate oxidoreductase reaction, it binds methyltetrahydrofolate, but reduces not the FAD cofactor, 240fold decrease in NADH-menadione oxidoreductase activity
A1298C
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high level of enzyme activity, retains 40% of its activity after 20 min at 55°C
A1298C
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MTHFR C677T/C677T and A1298C/A1298C, but not factor V-Leiden, genotypes are associated with stroke. The C677T but not A1298C MTHFR mutation is associated with elevated homocysteine levels in patients and control subjects
A1298C
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natural polymorphism. Mutation is not associated with increased toxicity of methotrexate
A1298C
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natural polymorphism, not associated with colorectal cancer risk. Patients with 1298CC and AC genotypes exhibit worse survival than those with the wild-type genotype. Variant C allele of A1298C affects negatively the response to 5-fluorouracil-based chemotherapy
A222V
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most frequent genetic cause of mild hyperhomocysteinemia, enzyme with enhanced propensity to dissociate into monomers and to lose its FAD cofactor on dilution, increased thermolability of enzyme activity
A222V
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common polymorphism of enzyme leading to thermolability of protein and mild elevation of plasma homocysteine thrombotic levels
A222V
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mutant with reduced enzymatic activity, predicts serum folate and plasma homocysteine levels and is useful for predicting toxicity from capecitabine in patients with advanced colorectal cancer
A222V
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no correlation can be proved between mutation, patient tumor site, presence of metastasis, and local tumor relapse, the polymorphism is not important in an individual's susceptibility to osteosarcoma and chondrosarcoma in Turkey and may not be a useful marker for identifying patients at high risk of developing sarcomas
A222V
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the major genetic impact on total plasma homocysteine concentrations is attributable to the MTHFR mutation A222V
A222V
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the muattion leads to elevated total homocysteine concentration and reduced folate and vitamin B12 levels, but is not associated with the development of bipolar disorders
A222V
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the mutation corresponding to gene polymorphism C677T is associated with an increased risk of breast and ovarian cancer
A222V
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the mutation is not associated with occlusive artery disease and deep venous thrombosis in Macedonians
A222V
the 677C>T polymorphism located in methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR) gene modulates the effects of this treatment on homocysteine and nitrite (as a biomarker of nitric oxide bioavailability) in obese women treated with simvastatin. Simvastatin treatment significantly reduces total cholesterol, low density lipoprotein-cholesterol, thiobarbituric acid-reactive substances, high-sensitivity C-reactive protein and homocysteine, whereas nitrite levels are increased. The reduction in homocysteine levels in carriers of the T allele is 20.3% compared with -9.4% in patients with the CC genotype. Importantly, before treatment, nitrite levels are significantly higher in patients with the CC genotype compared with T allele carriers, whereas after treatment these levels are similar between groups
C667T
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high level of enzyme activity, loses almost all its activity after 20 min at 55°C, enzyme in patients with TT or TC genotype are more thermolabile than wild type enzyme at 46°C
C677T
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MTHFR C677T/C677T and A1298C/A1298C, but not factor V-Leiden, genotypes are associated with stroke. The C677T but not A1298C MTHFR mutation is associated with elevated homocysteine levels in patients and control subjects
C677T
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natural polymorphism. Homozygosity for the C677T variant presents a 3fold increased risk of colorectal cancer
C677T
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natural polymorphism. Mutation is associated with increased toxicity of methotrexate
C677T
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no significant association between Mthfr mutation C677T and bipolar disorder
C677T
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seventy-one percent of patients with macrovascular disorders have the MTHFR polymorphism
C677T
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natural polymorphism, has protective effect on colorectal cancer, the TT genotype showing an odds ratios of 0.06 and the CT of 0.51. C677T genotypes do not affect patient survival. C677T allele carriers respond better to 5-fluorouracil-based chemotherapy than patients with the wild-type CC genotype
E429A
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A1298C mutation of the MTHRF gene, enzyme with indistinguishable properties from the wild-type
E429A
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mutant with reduced enzymatic activity, predicts serum folate and plasma homocysteine levels and is useful for predicting toxicity from capecitabine in patients with advanced colorectal cancer
E429A
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the mutation corresponding to gene polymorphism A1298T is associated with an increased risk of breast cancer
E429A
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the mutation has a minor elevating effect on total plasma homocysteine concentration
E429A
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the mutation is not associated with occlusive artery disease and deep venous thrombosis in Macedonians
A222V
Thermus thermophilus HB8 / ATCC 27634 / DSM 579
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the mutant shows enhanced instability upon loss of FAD
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additional information
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construction of a chimeric enzyme comprising the yeast N-terminal domain and the Arabidopsis thaliana C-terminal domain, recombinant expression in and complementation of an enzyme-deficient mutant strain with altered sensitivity to S-adenosyl-L-methionine and altered cofactor specifcity
additional information
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C677T mutation in the coding region of the gene, which replaces a conserved alanine by valine residue in enzyme with reduced activity, increased risk for cardiovascular disease, homozygosity results in a thermolabile enzyme and homocysteinaemia
additional information
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C677T mutation in MTHFR gene is a polymorphism which leads to the substitution of Ala-222 by valine
additional information
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A1298C mutation of the MTHFR gene, which leads to the substitution of Glu-429 by alanine
additional information
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C677T mutation of the gene for methylenetetrahydrofolate reductase: thermolabile enzyme with reduced activity, due to the loss of its riboflavin cofactor, homozygous genotype TT is associated with an increase in plasma total homocysteine, 12% of the healthy white population with this polymorphism
additional information
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homozygous C677T mutation in the MTHFR gene, resulting in a conserved amino acid change from alanine to valine: enzyme with reduced activity and higher thermolability, elevated plasma homocysteine concentrations, but no genetic risk factor for deep-vein thrombosis, irrespective of factor V Leiden genotype
additional information
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C677T nucleotide polymorphism, thermolabile, homozygotic persons show hyperhomocysteinemia, the homocysteine level can be reduced by riboflavin supplementation which might be useful in therapy of hyperhomocysteinemia, the mutantion affects the vitamin metabolism
additional information
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C677T and A1298C gene polymorphisms are associated with reduced enzyme activity, thereby making MTHFR polymorphisms a potential candidate as a cancer-predisposing factor, they may be associated with the individual susceptibility to develop diffuse large B cell lymphoma
additional information
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C677T and A1298C MTHFR polymorphic variants are associated with the risk of Down syndrome in infants
additional information
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existence of a joint effect between the MTHFR gene polymorphisms C677T and A1298C on the risk of gastric carcinoma, the single nucleotide polymorphisms are associated with the risk of gastric carcinoma in the east China population
additional information
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gastric cancer risk is associated with C677T bit not A1298C gene polymorphism
additional information
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gene polymorphism A1298T is associated with several diseases, such as cardiovascular and psychiatric diseases, neural tube defects, diabetes, and cancer
additional information
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gene polymorphism C677T does not affect the risk for acute graft-versus-host disease following allogeneic hematopoietic stem cell transplantation
additional information
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gene polymorphism C677T is responsible for thermolabile MTHFR with reduced enzymatic activity and is associated with Alzheimer's disease
additional information
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genotypes MTHFR C677T and A1298C do not appear to be important risk factors for thromboembolic disorders
additional information
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genotyping the MTHFR C677T and A1298T gene polymorphism play no role in the prediction of the disease-free survival of patients undergoing adjuvant 5-fluorouracil/methotrexate based chemotherapy against breast cancer
additional information
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high concentrations of serum folate/vitamin B12 levels are associated with the risk of promoter methylation in tumor-specific genes, and this relationship is modified by MTHFR C677T genotypes in Iranian colorectal cancer patients
additional information
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homo- and heterozygous MTHFR gene polymorphisms C677T and A1298C cause elevated plasma homocysteine concentrations after nitric oxide anesthesia
additional information
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homocysteine levels in children and adolescents are associated with the MTHFR polymorphism C677T genotype
additional information
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homozygocity for the C677T gene mutation of MTHFR is independently associated with the development of premature with premature myocardial infarction and normal coronary arteries
additional information
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hyperhomocysteinemia is significantly related to the severity of coronary artery disease independent on MTHFR polymorphism C677T
additional information
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in patients with acute myocardial infarction, MTHFR 677TT homozygosis is independently associated with a persistently occluded infarct-related artery after thrombolysis
additional information
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increased MTHFR 677T allele load confers risk for negative symptoms in schizophrenia, while reducing severity of positive symptoms, the biochemical interaction of low serum folate with 677T-variant MTHFR may induce downstream effects salient to the expression of negative symptoms
additional information
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individuals with a homozygous variant of the MTHFR C677T polymorphism have a reduced risk of colorectal cancer
additional information
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MTHFR C677T and A1298C gene polymorphisms result in hyperhomocysteinemia which causes abnormal hepatic steatosis
additional information
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MTHFR C677T and A1298C gene variants play a critical role in NHL outcome, possibly by interfering with the action of methotrexate with significant effects on toxicity and survival in non-Hodgkin's lymphoma patients
additional information
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MTHFR C677T gene polymorphism leads to a thermolabile enzyme, mild hyperhomocysteinemia, and increased coronary artery disease risk, in Caucasian Brazilians the frequency of the 677T homozygous genotype is increased in coronary artery disease cases in males but not in females, in African Brazilians the mutation is not associated with coronary artery disease in either sex
additional information
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MTHFR gene polymorphism A1298C is associated with an increased risk for acute lymphoblastic leukemia in Filipino children
additional information
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MTHFR gene polymorphism C667T interacts with elevated total homocysteine levels leading to an increased risk of ischemic stroke
additional information
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MTHFR gene polymorphism C677T affects follicular estradiol synthesis
additional information
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MTHFR gene polymorphism C677T has significantly greater carotid intima-media thickness, higher homocysteine levels, and lower folic acid levels
additional information
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MTHFR gene polymorphism C677T is a genetic marker for identifying women at increased risk of small for gestational age infants
additional information
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MTHFR gene polymorphism C677T is a strong modifier of folate status
additional information
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MTHFR gene polymorphism C677T is associated with idiopathic membranous glomerulonephritis
additional information
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MTHFR gene polymorphism C677T is neither a determinant of baseline coronary flow indices nor does it modulate the effect of pravastatin on coronary reactivity
additional information
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MTHFR gene polymorphism C677T modulates an individual's susceptibility to gastric cancer while no association is obeserved for the effect of the MTHFR gene polymorphism A1298C
additional information
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MTHFR gene polymorphism C677T, but not A1298C has significant association with atlantoaxial dislocation
additional information
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MTHFR gene polymorphisms A1298C and C677T lead to increased homocysteine plasma levels
additional information
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MTHFR gene polymorphisms C677T and A1298C do not play a role for the pathogenesis of primary open-angle glaucoma
additional information
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MTHFR gene polymorphisms C677T and A1298C in combination with angiotensin-converting enzyme insertion/deletion are risk factors for chronic allograft dysfunction
additional information
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MTHFR genotypes are not associated with cognitive function, cognitive decline, or survival among nonagenarians
additional information
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MTHFR polymorphisms C677T and A1298T are associated with colorectal cancer
additional information
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neither the homozygote mutant form nor the heterozygote form of the gene polymorphisms C677T and A1298C is associated with placental abruption
additional information
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no association between MTHFR C677T gene polymorphism and breast cancer in the Turkish popullation
additional information
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no association between the maternal 1298C allele, the 677CT/1298AC genotype or any of the corresponding genotypes, and anencephaly
additional information
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no association is observed between the C677T MTHFR gene polymorphism and the clinical outcome of patients treated with hematopoietic cell transplant
additional information
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no association with the 5,10-methylenetetrahydrofolate reductase gene polymorphism C677T and major depressive disorder, gene polymorphism C677T results in the production of a mildly dysfunctional thermolabile enzyme and is associated with a significant elevation in the circulating concentrations of homocysteine and a decrease in serum folate concentrations
additional information
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no associations between the putative functional MTHFR gene polymorphisms, C677T and A1298C, and schizophrenia or bipolar disorder
additional information
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no correlatio between MTHFR gene polymorphisms C677T and A1298C and serum methotrextae levels in patients with rheumatoid arthritis
additional information
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no evidence for transmission of the MTHFR 677T allele of gene polymorphism C677T associated with schizophrenia risk
additional information
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no significant correlation is demonstrated for C677T MTHFR gene polymorphism and homocysteine levels in Brazilian patients with coronary arterial disease, ischemic stroke, and peripheral arterial obstructive disease
additional information
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no statistically significant differences are seen between the allelic and genotypic distribution of the MTHFR polymorphism C677T in patients chronic allograft nephropathy and with normal renal function
additional information
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positive association between the MTHFR variant homozygous allele 677TT and breast cancer risk
additional information
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serum folate concentration is lower in individuals with the MTHFR 677TT genotype than in those with the MTHFR 677CC or 677CT genotypes
additional information
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the A1298C polymorphism in MTHFR gene has effects on enzyme activity but it can not be considered a major risk factor for coronary artery disease in a selected Iranian population
additional information
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the association of homocysteine with cardiovascular disease is not modified by MTHFR C677T gene polymorphism
additional information
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the C1129T gene polymorphism leads to severe MTHFR deficiency which is associated with brain disease
additional information
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the C667T and A1298C MTHFR gene polymorphisms are not contributing to the aetiology of idiopathic mental retardation in an Indian population
additional information
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the C677T gene polymorphism causes a valine-to-alanine substitution which produces a thermolabile variant of the enzyme and is associated with higher levels of plasma total homocysteine and congitive test performance in older women
additional information
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the C677T gene polymorphism decreases enzyme activity and does not significantly contribute to the inherited genetic susceptibility to breast and prostate cancer, while there is some evidence for possible genetic contribution of this polymorphism to the development of head and neck carcinoma
additional information
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the C677T gene polymorphism does not influence the first and second trimester uterine artery Doppler flow
additional information
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the C677T gene polymorphism in combination with catechol-O-methyltransferase G324A (Val108/158Met) polymorphism might increase schizophrenia susceptibility
additional information
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the C677T gene polymorphism is a modulator of a B vitamin network with major effects on homocysteine metabolism und related to the plasma total homocysteine level
additional information
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the C677T gene polymorphism is associated with hypertension in Caucasian and Asian populations
additional information
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the C677T gene polymorphism is associated with increased homocysteine and decreased folate concentrations
additional information
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the C677T gene polymorphism is associated with increased risk of gastric cancer susceptibility in Chinese populations, there is no association between gastric cancer risk and A1298C polymorphism
additional information
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the C677T gene polymorphism is not associated with obesity
additional information
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the C677T gene polymorphism is not associated with the risk to develop dyskinesia, motor fluctuation, and psychosis induced by levodopa in Parkinson's disease patients
additional information
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the C677T MTHFR gene polymorphism contributes to certain executive function deficits in schizophrenia
additional information
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the C677T MTHFR gene polymorphism is no important risk factor for thromboembolic stroke associated with atrial fibrillation
additional information
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the C677T MTHFR gene polymorphism is not associated with chronic plaque psoriasis among Caucasians
additional information
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the C677T MTHFR gene polymorphism results in lower activity of the enzyme and in a subsequent increase in homocysteine levels, is not an independnet predictor on medium-term prognosis after acute coronary syndromes
additional information
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the C677T polymorphism modifies the age at onset of colorectal cancer in Caucasian Lynch syndrome subjects with the 677T allele having a protective effect, while there is no association between the MTHFR A1298C polymorphism and age at onset of colorectal cancer
additional information
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the C677T/A1298C compound heterozygous MTHFR genotype is associated with branch retinal artery occlusion
additional information
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the common MTHFR C677T gene polymorphism causing an Ala to Val protein change is associated with reduced enzyme activity thereby increasing plasma homocysteine level, C667Tis no contributing factor to thrombosis during cancer treatment
additional information
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the coronary artery disease risk increase is mainly associated with mild hyperhomocysteinaemia in homozygous gene polymorphism C677T, whereas in heterozygous C677T it is mainly associated with the conventional risk factors
additional information
the disorders of folate metabolism caused by MTHFR gene polymorphisms C677T and A1298C may lead to several disease states including coronary heart disease, venous thrombosis, and several types of cancer
additional information
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the effect of MTHFR polymorphisms C677T and A1298C on the risk of lung cancer is undetectable
additional information
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the G1793A gene polymorphism has a lowering effect on total plasma homocysteine
additional information
the genetic risk for gall bladder cancer is not modulated by MTHFR C677T gene polymorphism
additional information
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the homozygous C677T MTHFR gene polymorphism is associated with coronary artery obstruction
additional information
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the homozygous mutation (677TT) of the gene polymorphism C677T reduces enzyme activity, alters cellular folate composition, and decreases S-adenosyl methionine synthesis via folate-dependent re-methylation
additional information
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the MTHFR 677 T allele seems to protect against chronic hepatitis B virus infection in young African adults
additional information
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the MTHFR C677T and A1298C gene polymorphisms are no signifikant risk factors in adult acute lympohoblastic leukemia in the Korean population
additional information
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the MTHFR C677T gene polymorphism in combination with the thymidylate synthase enhancer region 2R(+) genotype is a risk factor of cholangiocarcinoma in a Korean population
additional information
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the MTHFR C677T gene polymorphism may play a role in influencing liver fibrosis progression in patients with recurrent hepatitis C
additional information
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the MTHFR C677T genotype is the dominant determinant of nonmethylfolate accumulation in red blood cells
additional information
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the MTHFR C677T polymorphism is associated with primary closed-angle glaucoma but not primary open-angle glaucoma in patients of Pakistani origin
additional information
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the MTHFR C677T variant CT and CT + TT genotypes decrease cervix cancer risk in North Indian women
additional information
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the MTHFR gene polymorphism C677T has no contribution in hyperhomocysteinemia in epileptic patients receiving carbamazepine or valproic acid
additional information
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the MTHFR gene polymorphism C677T is associated with diffuse multicystic encephalomalacia
additional information
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the MTHFR gene polymorphism C677T is associated with impaired catalytic properties of the enzyme, betaine is a strong determinant of plasma tHcy in subjects with low serum folate and homozygous C677T genotype
additional information
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the MTHFR gene polymorphism C677T is associated with lumbar spine and hip bone mineral density in children
additional information
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the MTHFR gene polymorphism C677T is no risk factor for the progression of fatty liver disease to nonalcoholic steatohepatitis
additional information
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the MTHFR gene polymorphism C677T is not associated with congenital heart disease and may be linked to the development of aortic arch anomalies
additional information
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the MTHFR gene polymorphism C677T is not associated with the development of diabetic nephropathy in Turkish type 2 diabetic patients
additional information
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the MTHFR gene polymorphisms C677T and A1298C are associated with altered enzyme activity
additional information
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the presence of the T allele in the C677T MTHFR gene polymorphism is associated with higher homocysteine levels, which is more prominent in men than in women
additional information
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the simultaneous presence of C677T and A1298A genotypes provides a significant risk of developing coronary artery disease, while the A1298C genotype combined with C677C shows a significant trend towards a decrease in coroary artery disease occurrence
additional information
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the T allele of the MTHFR C677T genotype is significantly associated with atherothrombotic infarction
additional information
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there is a correlation between MTHFR C677T gene mutations and recurrent fetal loss
additional information
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there is a trend for a higher MTHFR 677T allele frequency in breast cancer cases than in controls
additional information
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there is some evidence of association between MTHFR C677T gene polymorphism and diabetic nephropathy
additional information
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analysis of two mutations in MTHFR gene in compound heterozygous patients with extremely low or undetectable enzyme activity. Mutation c.523G>A leads to an Ala>Thr transition in the catalytic domain of the enzyme, mutation c.1166G>A induces alternative splicing of exon 7 at the junction of the catalytic and regulatory domains. Both parents carry only one of these mutations and present with moderate and intermediate hyperhomocysteinemia, respectively, without neurological symptoms
additional information
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a C677T polymorphism is associated with an increased risk for the development of cardiovascular disease, Alzheimers disease, and depression in adults and of neural tube defects in the fetus
additional information
construction of a full-length (amino acids 1-656, hsMTHFRFL) enzyme variant, a second variant encompassing just the catalytic domain and the regulatory domain (amino acids 38-644, hsMTHFRCD-RD), and a thrid variant encompassing the regulatory domain and part of the linker region (amino acids 348-656, hsMTHFRRD)
additional information
to examine the importance of the N-terminal serine-rich region to global protein phosphorylation, a recombinant HsMTHFR38-644 is produced, which removes the N-terminal 37 amino acids, including the entire serine-rich region as well as the poorly conserved C-terminal 12 amino acids predicted to be of high disorder. Purified HsMTHFR38-644 is not phosphorylated, determined by phosphorylation mapping, or native mass spectrometry, and treatment with CIP does not alter the protein molecular mass. Construction of truncated enzyme mutants, sMTHFR1-656 and HsMTHFR38-644. Dimeric mutant HsMTHFR38-644 is not phosphorylated
additional information
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enzyme null mutants lack 5-methyltetrahydrofolate and cannot utilize exogenous homocysteine for growth. In mouse model of infection, null mutants show good infectivity and virulence
additional information
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mutant strain RRY1 with single disruption of MET13 and strain RRY3 with double disruption of both MET12 and MET13, but not strain RRY2 with single disruption of MET12, result in loss of MTHFR activity and methionine auxothrophy, they can be complemented by overexpression of the human enzyme, but not by overexpression of the Escherichia coli metF gene
additional information
construction of a chimeric enzyme comprising the yeast N-terminal domain and the Arabidopsis thaliana C-terminal domain, recombinant expression in and complementation of an enzyme-deficient mutant strain with altered sensitivity to S-adenosyl-L-methionine and altered cofactor specifcity
additional information
-
construction of a chimeric enzyme comprising the yeast N-terminal domain and the Arabidopsis thaliana C-terminal domain, recombinant expression in and complementation of an enzyme-deficient mutant strain with altered sensitivity to S-adenosyl-L-methionine and altered cofactor specifcity
additional information
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mutant strain RRY1 with single disruption of MET13 and strain RRY3 with double disruption of both MET12 and MET13, but not strain RRY2 with single disruption of MET12, result in loss of MTHFR activity and methionine auxothrophy, they can be complemented by overexpression of the human enzyme, but not by overexpression of the Escherichia coli metF gene
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