Association of methylenetetrahydrofolate reductase genetic polymorphisms with atlantoaxial dislocation

Pradhan, M.; Behari, S.; Kalra, S.K.; Ojha, P.; Agarwal, S.; Jain, V.K.; J. Neurosurg. Spine 7, 623-630 (2007)

 show all sequences of 1.5.1.20

Data extracted from this reference:

Engineering
Amino acid exchange Commentary Organism
additional information MTHFR gene polymorphism C677T, but not A1298C has significant association with atlantoaxial dislocation Homo sapiens
Organism
Organism Primary Accession No. (UniProt) Commentary Textmining
Homo sapiens
-
-
-
Source Tissue
Source Tissue Commentary Organism Textmining
blood
-
 Homo sapiens
-
Substrates and Products (Substrate)
Substrates Commentary Substrates Literature (Substrates) Organism Products Commentary (Products) Literature (Products) Organism (Products) Reversibility
5,10-methylenetetrahydrofolate + reduced acceptor
-
 688554 Homo sapiens 5-methyltetrahydrofolate + oxidized acceptor
-
-
-
 ?
Engineering (protein specific)
Amino acid exchange Commentary Organism
additional information MTHFR gene polymorphism C677T, but not A1298C has significant association with atlantoaxial dislocation Homo sapiens
Source Tissue (protein specific)
Source Tissue Commentary Organism Textmining
blood
-
 Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
Substrates Commentary Substrates Literature (Substrates) Organism Products Commentary (Products) Literature (Products) Organism (Products) Reversibility
5,10-methylenetetrahydrofolate + reduced acceptor
-
 688554 Homo sapiens 5-methyltetrahydrofolate + oxidized acceptor
-
-
-
 ?

See also following references to EC number 1.5.1.20 (sorted by year of publication):
No.1st authorPub
Med		titleorganimsjournalvolumepagesyearActivating CompoundApplicationCloned(Commentary)Crystallization (Commentary)EngineeringGeneral StabilityInhibitorsKM Value [mM]LocalizationMetals/IonsMolecular Weight [Da]Natural Substrates/ Products (Substrates)Organic Solvent StabilityOrganismOxidation StabilityPosttranslational ModificationPurification (Commentary)ReactionRenatured (Commentary)Source TissueSpecific Activity [micromol/min/mg]Storage StabilitySubstrates and Products (Substrate)SubunitsTemperature Optimum [°C]Temperature Range [°C]Temperature Stability [°C]Turnover Number [1/s]pH OptimumpH RangepH StabilityCofactorKi Value [mM]pI ValueIC50 ValueActivating Compound (protein specific)Application (protein specific)Cloned(Commentary) (protein specific)Cofactor (protein specific)Crystallization (Commentary) (protein specific)Engineering (protein specific)General Stability (protein specific)IC50 Value (protein specific)Inhibitors (protein specific)Ki Value [mM] (protein specific)KM Value [mM] (protein specific)Localization (protein specific)Metals/Ions (protein specific)Molecular Weight [Da] (protein specific)Natural Substrates/ Products (Substrates) (protein specific)Organic Solvent Stability (protein specific)Oxidation Stability (protein specific)Posttranslational Modification (protein specific)Purification (Commentary) (protein specific)Renatured (Commentary) (protein specific)Source Tissue (protein specific)Specific Activity [micromol/min/mg] (protein specific)Storage Stability (protein specific)Substrates and Products (Substrate) (protein specific)Subunits (protein specific)Temperature Optimum [°C] (protein specific)Temperature Range [°C] (protein specific)Temperature Stability [°C] (protein specific)Turnover Number [1/s] (protein specific)pH Optimum (protein specific)pH Range (protein specific)pH Stability (protein specific)pI Value (protein specific)ExpressionGeneral InformationGeneral Information (protein specific)Expression (protein specific)KCat/KM [mM/s]KCat/KM [mM/s] (protein specific)
712182Fernandez-PeraltaAssociation of polymorphisms M ...Homo sapiensInt. J. Colorectal Dis.25141-1512010-1--2--------1-----1----------------1---2--------------1------------------
713042ForgesLife-threatening methylenetetr ...Homo sapiensMol. Genet. Metab.100143-1482010----1--------1---------1----------------1------------------1--------------
688709SabinoPolymorphism in the methylenet ...Homo sapiensJ. Thromb. Thrombolysis2782-872009----1--------1-----1--1-----------------1--------------1--1---------------
696353LeeFunctional role for the confor ...Escherichia coliBiochemistry487673-76852009---12-19-----1--------2----6---22-----212--129------------2----6----------
696920PickellMethylenetetrahydrofolate redu ...Mus musculusBirth Defects Res. Part A Clin. Mol. Teratol.85531-5412009-1-----------1----------------------1-------------------------------------
697433SzamosiPlasma homocysteine levels, th ...Homo sapiensClin. Rev. Allergy Immunol.36145-1492009-1--1--------1----------------------1---1---------------------------------
697857JakubowskiGenetic or nutritional disorde ...Homo sapiensFASEB J.231721-17272009-1--1--------1----------------------1---1---------------------------------
698118GilfixAn unusual melting curve on a ...Homo sapiensGenet. Test. Mol. Biomarkers13769-7712009-1--1--------2----------------------1---1---------------------------------
698143LawranceMethylenetetrahydrofolate redu ...Mus musculusGut58805-8112009-2-----------1----------------------2-------------------------------------
699676YuanMethylenetetrahydrofolate redu ...Homo sapiensJ. Neurol. Sci.28764-682009-1-----------1----------------------1-------------------------------------
699836FisherMetaanalysis of methylenetetra ...Homo sapiensJ. Rheumatol.36539-5452009-1--2--------1----------------------1---2---------------------------------
699849Almawi-Case-control study of methylen ...Homo sapiensJ. Stroke Cerebrovasc. Dis.18407-4082009-1--2--------1----------------------1---2---------------------------------
699930Karas Kuzelicki5,10-Methylenetetrahydrofolate ...Homo sapiensLeuk. Res.331344-13482009-1-----------1----------------------1-------------------------------------
700462ChenC677T methylenetetrahydrofolat ...Homo sapiensNeurosci. Lett.44948-512009-1--1--------1----------------------1---1---------------------------------
702155McGuireMetabolism-blocked antifolates ...Homo sapiensBiochem. Pharmacol.771161-11722009------9------1--1-----1-1---------9-------99---------1----1-1-------------
705297BrosnanCreatine synthesis is a major ...Sus scrofaJ. Nutr.1391292-12972009-------------1-----106-------1--------------------------106-------1---------
684274BocciaMeta- and pooled analyses of t ...Homo sapiensAm. J. Epidemiol.167505-5162008----1--------1--------1-----------------1-----------------1---------------
684291Martinez-FriasThe biochemical structure and ...Homo sapiensAm. J. Med. Genet. A146A1477-14822008----1--------1--------1--------1------1-1-----------------1---------------
684428NageleInfluence of methylenetetrahyd ...Homo sapiensAnesthesiology10936-432008----1--------1-----1--------------------1--------------1------------------
684442ErogluThe 19-bp deletion of dihydrof ...Homo sapiensAnn. Hematol.8873-762008----1--------1-----1--------------------1--------------1------------------
684738ShekariImpact of methylenetetrahydrof ...Homo sapiensArch. Gynecol. Obstet.278517-5242008----1--------1-----1--------------------1--------------1------------------
684805RallidisRole of methylenetetrahydrofol ...Homo sapiensAtherosclerosis200115-1202008----1--------1-----2--------------------1--------------2------------------
685862SharpPolymorphisms in the methylene ...Homo sapiensBr. J. Nutr.99379-3892008----1--------1-----1--1-----------------1--------------1--1---------------
685895LangsenlehnerMethylenetetrahydrofolate redu ...Homo sapiensBreast Cancer Res. Treat.107459-4602008----1--------1--------------------------1---------------------------------
685990SazciMethylenetetrahydrofolate redu ...Homo sapiensCell Biochem. Funct.26291-2962008----1--------1-----1--------------------1--------------1------------------
685995SunKnock-down of methylenetetrahy ...Homo sapiensCell Biol. Int.32879-8872008-1----1------1-----1--1-------------1------1-----------1--1---------------
686144SharmaThymidylate synthase and methy ...Homo sapiensClin. Cancer Res.14817-8252008----2--------1-----1--1-----------------2--------------1--1---------------
686158NaghibalhossainiEasy detection of 5,10-methyle ...Homo sapiensClin. Chem. Lab. Med.46987-9892008----1--------1-----1--1-----------------1--------------1--1---------------
686240SpiroskiAssociation of methylenetetrah ...Homo sapiensCroat. Med. J.4939-492008----2--------1-----1--1-----------------2--------------1--1---------------
686334SrivastavaNo association of methylenetet ...Homo sapiensDNA Cell Biol.27127-1322008----1--------1-----1--1-----------------1--------------1--1---------------
686497SunMethylenetetrahydrofolate redu ...Homo sapiensEur. J. Cancer Prev.17446-4522008----1--------1-----1--1-----------------1--------------1--1---------------
686513LewisThe methylenetetrahydrofolate ...Homo sapiensEur. J. Endocrinol.15935-402008----1--------1--------1-----------------1-----------------1---------------
686517SummersInfluence of the cystathionine ...Homo sapiensEur. J. Hum. Genet.161010-10132008-1--1--------1--------1-------------1---1-----------------1---------------
686540StonekCarriage of the methylenetetra ...Homo sapiensEur. J. Obstet. Gynecol. Reprod. Biol.140178-1822008----1--------1-----1--1-----------------1--------------1--1---------------
686572MuntjewerffPolymorphisms in catechol-O-me ...Homo sapiensEur. Neuropsychopharmacol.1899-1062008----1--------1-----1--1-----------------1--------------1--1---------------
686590AzarpiraPolymorphism of the methylenet ...Homo sapiensExp. Clin. Transplant.654-582008----1--------2-----2--1-----------------1--------------2--1---------------
686592WegerThe methylenetetrahydrofolate ...Homo sapiensExp. Dermatol.17748-7512008----1--------1-----1--1-----------------1--------------1--1---------------
686829HechtCommon 677C-->T mutation of th ...Homo sapiensFertil. Steril.9156-612008----1--------1-----1--------------------1--------------1------------------
686835OzgerMethylenetetrahydrofolate redu ...Homo sapiensFolia Biol.5453-572008----1--------1-----1--1-----------------1--------------1--1---------------
687066RassoulPlasma homocysteine levels & 6 ...Homo sapiensIndian J. Med. Res.127154-1582008----1--------1-----1--------------------1--------------1------------------
687167KimMethylenetetrahydrofolate redu ...Homo sapiensInt. J. Geriatr. Psychiatry23454-4592008----1--------1-----1--------------------1--------------1------------------
687170SugimotoDecreased risk of acute graft- ...Homo sapiensInt. J. Hematol.87451-4582008----1--------1-----1--------------------1--------------1------------------
687772LeclercEndoplasmic reticulum stress i ...Mus musculusJ. Biol. Chem.2833151-316020086-1---1------1-----1--1------------6-1-----1-----------1--1---------------
687894SteerThe methylenetetrahydrofolate ...Homo sapiensJ. Bone Miner. Res.24117-1242008----1--------1--------------------------1---------------------------------
687925RoyValproic acid increases expres ...Mus musculusJ. Cell. Biochem.105467-47620081-1----------1--------1------------1-1--------------------1---------------
687946AygunDiffuse multicystic encephalom ...Homo sapiensJ. Child Neurol.23695-6982008----1--------1--------1-----------------1-----------------1---------------
688057NishioSerum folate and methylenetetr ...Homo sapiensJ. Epidemiol.18125-1312008----1--------1-----1--1-----------------1--------------1--1---------------
688135BronowickiMethylenetetrahydrofolate redu ...Homo sapiensJ. Hepatol.48532-5392008----1--------1-----1--1-----------------1--------------1--1---------------
688142MaoMethylenetetrahydrofolate redu ...Homo sapiensJ. Hum. Genet.53340-3482008----1--------1--------1-----------------1-----------------1---------------
688184LiMefolinate (5-methyltetrahydro ...Homo sapiensJ. Inherit. Metab. Dis.31403-4112008-1-----------4--------1-------------1---------------------1---------------
688562SolisFolate intake at RDA levels is ...Homo sapiensJ. Nutr.13867-722008----1--------1--------------------------1---------------------------------
688710PattiMethylenetetrahydrofolate redu ...Homo sapiensJ. Thromb. Thrombolysis27413-4202008----1--------1--------------------------1---------------------------------
688778ToniuttoMethylenetetrahydrofolate redu ...Homo sapiensLiver Int.28257-2632008----1--------1-----1--------------------1--------------1------------------
689103MichaelC677T polymorphism in the meth ...Homo sapiensMol. Vis.14661-6652008----1--------1-----1--1-----------------1--------------1--1---------------
689166LinnebankThe methylenetetrahydrofolate ...Homo sapiensNeuro-oncology10548-5522008----1--------1-----1--1-----------------1--------------1--1---------------
689282DuttaScreening for methylenetetrahy ...Homo sapiensNutr. Neurosci.1118-242008----1--------1-----1--1-----------------1--------------1--1---------------
689329Alcasabas5,10-Methylenetetrahydrofolate ...Homo sapiensPediatr. Blood Cancer51178-1822008----1--------1-----1--1-----------------1--------------1--1---------------
689330KooMethylenetetrahydrofolate redu ...Homo sapiensPediatr. Cardiol.29136-1412008----1--------1-----1--1-----------------1--------------1--1---------------
689333BueyuekcelikArterial thrombosis associated ...Homo sapiensPediatr. Nephrol.23491-4942008----1--------1-----1--1-----------------1--------------1--1---------------
689364CeltikciAltered expression of methylen ...Mus musculusPharmacogenet. Genomics18577-5892008-11----------1-----1--1-------------11-----------------1--1---------------
689833OzbekEffect of the methylenetetrahy ...Homo sapiensProg. Neuropsychopharmacol. Biol. Psychiatry321331-13372008----2--------1-----1--1-----------------2--------------1--1---------------
689836VurucuEvaluation of the relationship ...Homo sapiensProg. Neuropsychopharmacol. Biol. Psychiatry32844-8482008----1--------1-----1--1-----------------1--------------1--1---------------
690124FreitasMethylenetetrahydrofolate redu ...Homo sapiensThromb. Res.122648-6562008----1--------1-----1--1-----------------1--------------1--1---------------
690199MokarramMethylenetetrahydrofolate redu ...Homo sapiensWorld J. Gastroenterol.143662-36712008----1--------1-----1--------------------1--------------1------------------
695436GuerreiroRisk of colorectal cancer asso ...Homo sapiensAm. J. Clin. Nutr.881413-14182008-2--1--------1----------------------2---1---------------------------------
684226Lin5,10-methylenetetrahydrofolate ...Homo sapiensActa Neurol.16150-1572007----1--------1-----1--------------------1--------------1------------------
684273ElkinsMethylenetetrahydrofolate redu ...Homo sapiensAm. J. Epidemiol.166672-6782007----1--------1-----1--------------------1--------------1------------------
684280HustadThe methylenetetrahydrofolate ...Homo sapiensAm. J. Hum. Genet.80846-8552007----1--------1-----1--------------------1--------------1------------------
684295MuntjewerffNo evidence for a preferential ...Homo sapiensAm. J. Med. Genet. B144B891-8942007----1--------1-----1--------------------1--------------1------------------
684297GaysinaNo association with the 5,10-m ...Homo sapiensAm. J. Med. Genet. B147B699-7062007----1--------1--------------------------1---------------------------------
684298JoenssonTwo methylenetetrahydrofolate ...Homo sapiensAm. J. Med. Genet. B147B976-9822007----1--------1--------------------------1---------------------------------
684314AnanthAssociations between 2 polymor ...Homo sapiensAm. J. Obstet. Gynecol.197385e1-385e72007----1--------1-----1--------------------1--------------1------------------
684441SirajGenetic polymorphisms of methy ...Homo sapiensAnn. Hematol.86887-8952007----1--------1-----1--------------------1--------------1------------------
684465PareInfluence of thymidylate synth ...Homo sapiensAnticancer Drugs18821-8252007----1--------1-----1--------------------1--------------1------------------
684469KoPolymorphisms of 5,10-methylen ...Homo sapiensAnticancer Res.264229-42332007----1--------1-----1--------------------1--------------1------------------
684473OhAssociation of the 5,10-methyl ...Homo sapiensAnticancer Res.273419-34242007----1--------1-----1--------------------1--------------1------------------
685493BocciaMethylenetetrahydrofolate redu ...Homo sapiensBiomarkers12635-6442007----1--------1-----1--------------------1--------------1------------------
685860RuizHomocysteine levels in childre ...Homo sapiensBr. J. Nutr.97255-2622007----1--------1-----1--------------------1--------------1------------------
685893JakubowskaMethylenetetrahydrofolate redu ...Homo sapiensBreast Cancer Res. Treat.104299-3082007----2--------1-----1--1-----------------2--------------1--1---------------
685894MacisMethylenetetrahydrofolate redu ...Homo sapiensBreast Cancer Res. Treat.106263-2712007----1--------1-----1--------------------1--------------1------------------
685917PandeInfluence of methylenetetrahyd ...Homo sapiensCancer Epidemiol. Biomarkers Prev.161753-17592007----1--------1-----1--1-----------------1--------------1--1---------------
685988Hekim-No association between methyle ...Homo sapiensCell Biochem. Funct.25115-1172007----1--------1-----1--1-----------------1--------------1--1---------------
686128DoelekMolecular analysis of factor V ...Homo sapiensClin. Appl. Thromb. Hemost.13435-4382007----1--------1-----1--1-----------------1--------------1--1---------------
686133ReljicThe methylenetetrahydrofolate ...Homo sapiensClin. Biochem.40981-9852007----1--------1-----1--1-----------------1--------------1--1---------------
686149ZeeHomocysteine, 5,10-methylenete ...Homo sapiensClin. Chem.53845-8512007----1--------1-----1--------------------1--------------1------------------
686185AngiusMethylenetetrahydrofolate redu ...Homo sapiensClin. Lab.5329-332007----1--------1-----1--1-----------------1--------------1--1---------------
686310ErogluThe relationship of the methyl ...Homo sapiensDiabetes Metab. Res. Rev.23621-6242007----1--------1-----1--1-----------------1--------------1--1---------------
686329SerinMethylenetetrahydrofolate redu ...Homo sapiensDigest. Dis. Sci.521183-11862007----1--------1-----1--1-----------------1--------------1--1---------------
686343HeurBranch retinal artery occlusio ...Homo sapiensDoc. Ophthalmol.114163-1682007----1--------1--------------------------1---------------------------------
686515QianA meta-analysis of association ...Homo sapiensEur. J. Hum. Genet.151239-12452007----1--------1--------1-----------------1-----------------1---------------
686589AzarpiraMethylenetetrahydrofolate redu ...Homo sapiensExp. Clin. Transplant.5693-6972007----1--------1-----1--1-----------------1--------------1--1---------------
686633ChwatkoMutations in methylenetetrahyd ...Homo sapiens, Mus musculusFASEB J.211707-17132007----2--------2-----2--2-----------------2--------------2--2---------------
686994GemmatiMethylenetetrahydrofolate redu ...Homo sapiensHaematologica92478-4852007----1--------1-----1--1-----------------1--------------1--1---------------
687023RiosSex-specific effect of the the ...Homo sapiensHum. Biol.79453-4612007----1--------1-----1--------------------1--------------1------------------
687152CakirMyocardial infarction and veno ...Homo sapiensInt. J. Cardiol.117e98-1002007----1--------1--------------------------1---------------------------------
687174BoettigerAssociation of total plasma ho ...Homo sapiensInt. J. Mol. Med.19659-6652007----3--------1-----1--------------------3--------------1------------------
687359AraiPolymorphisms of apolipoprotei ...Homo sapiensJ. Artheroscl. Thromb.14167-1712007----1--------1-----1--------------------1--------------1------------------
687832BennouarThermolabile methylenetetrahyd ...Homo sapiensJ. Biomed. Biotechnol.2007806872007----1--------1-----1--------------------1--------------1------------------
687957HolmModulation of the homocysteine ...Homo sapiensJ. Clin. Endocrinol. Metab.921535-15412007----1--------1-----1--1-----------------1--------------1--1---------------
688129BathumMethylenetetrahydrofolate redu ...Homo sapiensJ. Gerontol. A Biol. Sci. Med. Sci.62196-2012007----1--------1-----2--1-----------------1--------------2--1---------------
688140ZintzarasMethylenetetrahydrofolate redu ...Homo sapiensJ. Hum. Genet.52881-8902007----1--------1--------1-----------------1-----------------1---------------
688451AgarwalImproved real-time multiplex p ...Homo sapiensJ. Mol. Diagn.9345-3502007----1--------1-----1--1-----------------1--------------1--1---------------
688476LiApplication of microarray-base ...Homo sapiensJ. Nanosci. Nanotechnol.73245-32492007----1--------1--------------------------1---------------------------------
688554PradhanAssociation of methylenetetrah ...Homo sapiensJ. Neurosurg. Spine7623-6302007----1--------1-----1--1-----------------1--------------1--1---------------
688565SmuldersRed blood cell folate vitamer ...Homo sapiensJ. Nutr. Biochem.18693-6992007----1--------1-----1--1-----------------1--------------1--1---------------
688688KawamotoAn association of 5,10-methyle ...Homo sapiensJ. Stroke Cerebrovasc. Dis.1467-742007----1--------1-----1--1-----------------1--------------1--1---------------
688704Ghaedi-Common polymorphism A1298C in ...Homo sapiensJ. Tehran Univ. Heart Cent.2161-1662007----1--------1-----1--1-----------------1--------------1--1---------------
688715FukinoMethylenetetrahydrofolate redu ...Homo sapiensJ. Toxicol. Sci.32449-4522007----1--------1-----1--------------------1--------------1------------------
688756ChiangFolate restriction and methyle ...Homo sapiensLeukemia21651-6582007--1-1--------1-----------------------1--1---------------------------------
689009StraussPrevention of brain disease fr ...Homo sapiensMol. Genet. Metab.91165-1752007----1--------1-----1--------------------1--------------1------------------
689031MunozMethylenetetrahydrofolate redu ...Homo sapiensMol. Hum. Reprod.13419-4242007----1--------1-----1--1-----------------1--------------1--1---------------
689078KasapMolecular phylogenetic analysi ...Agrobacterium tumefaciens, Aquifex aeolicus, Arabidopsis thaliana, Aspergillus oryzae, Bacteroides thetaiotaomicron, Bifidobacterium longum, Bordetella bronchiseptica, Bordetella parapertussis, Bos taurus, Bradyrhizobium japonicum, Brucella suis, Caenorhabditis elegans, Candida albicans, Candida glabrata, Candidatus Blochmannia floridanus, Caulobacter vibrioides, Chromobacterium violaceum, Collimonas fungivorans, Corynebacterium diphtheriae, Corynebacterium glutamicum, Coxiella burnetii, Desulfovibrio vulgaris, Dictyostelium discoideum, Emericella nidulans, Escherichia coli, Gibberella zeae, Gloeobacter violaceus, Homo sapiens, Leptospira interrogans, Macaca fascicularis, Macaca mulatta, Magnaporthe grisea, Mesorhizobium loti, Methanosarcina mazei, Mus musculus, Oryza sativa, Pasteurella multocida, Photorhabdus luminescens, Prochlorococcus marinus, Pseudomonas syringae, Ralstonia solanacearum, Rattus norvegicus, Rhodopirellula baltica, Rhodopseudomonas palustris, Saccharomyces cerevisiae, Schizosaccharomyces pombe, Shigella flexneri, Sinorhizobium meliloti, Streptococcus pneumoniae, Tetraodon nigroviridis, Thermus thermophilus, Vibrio cholerae, Vibrio parahaemolyticus, Vibrio vulnificus, Wolinella succinogenes, Xenopus laevis, Xylella fastidiosa, Zea maysMol. Phylogenet. Evol.42838-8462007----2--------58--------58--------58------58-2-----------------58---------------
689111KimThe interactive effect of meth ...Homo sapiensMutat. Res.62214-182007----1--------1--------1-----------------1-----------------1---------------
689284StonekMethylenetetrahydrofolate redu ...Homo sapiensObstet. Gynecol.110363-3682007-