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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens methylmalonyl CoA mutase (MUT), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25184 Homo sapiens methylmalonyl CoA mutase (MUT), mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu25184C Homo sapiens methylmalonyl CoA mutase (MUT), mRNA. Customized vector On-demand $329.00 12-14

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_000255.3, 296010795
Length 2253 bp
Structure linear
Update Date 18-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens methylmalonyl CoA mutase (MUT), mRNA.
Product methylmalonyl-CoA mutase, mitochondrial precursor
Comment

Summary: This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000246.2
CDS 266..2518
Misc Feature(1)89..91
Misc Feature(2)383..1987
Misc Feature(3)386..2497
Misc Feature(4)order(551..553,557..562,572..574,581..583,587..589,
Misc Feature(5)order(551..553,557..562,572..574,581..583,587..589,
Misc Feature(6)order(593..595,677..679,683..685,692..694,743..745,
Misc Feature(7)2111..2476
Misc Feature(8)order(2135..2155,2162..2164,2273..2281,2285..2293,
Misc Feature(9)2144..2146
Exon (1)1..226
Gene:MUT
Gene Synonym:MCM
Exon (2)227..650
Gene:MUT
Gene Synonym:MCM
Exon (3)651..1018
Gene:MUT
Gene Synonym:MCM
Exon (4)1019..1176
Gene:MUT
Gene Synonym:MCM
Exon (5)1177..1348
Gene:MUT
Gene Synonym:MCM
Exon (6)1349..1597
Gene:MUT
Gene Synonym:MCM
Exon (7)1598..1709
Gene:MUT
Gene Synonym:MCM
Exon (8)1710..1825
Gene:MUT
Gene Synonym:MCM
Exon (9)1826..1941
Gene:MUT
Gene Synonym:MCM
Exon (10)1942..2073
Gene:MUT
Gene Synonym:MCM
Exon (11)2074..2221
Gene:MUT
Gene Synonym:MCM
Exon (12)2222..2389
Gene:MUT
Gene Synonym:MCM
Exon (13)2390..3886
Gene:MUT
Gene Synonym:MCM
Translation MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLI WHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESN KFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLE KMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDE FAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTE QDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPK VADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTEC AASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSA IKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQ AVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV
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Position Chain Variation Link
68+dbSNP:
68+a, tdbSNP:3729619
complement(75)-g, adbSNP:116391415
complement(99)-c, adbSNP:144562919
complement(108..109)-, cdbSNP:145574629
complement(170)-t, cdbSNP:200217597
complement(187)-t, cdbSNP:184509406
complement(243)-dbSNP:
complement(243)-t, cdbSNP:200150817
317+c, tdbSNP:121918248
complement(318)-t, cdbSNP:372601759
356+c, tdbSNP:398123278
complement(415)-g, cdbSNP:368296765
complement(470)-t, cdbSNP:115923556
complement(506)-g, adbSNP:150841850
543+a, gdbSNP:121918251
complement(549)-g, adbSNP:190834116
complement(550)-t, cdbSNP:113008304
578+c, tdbSNP:121918249
587+c, tdbSNP:121918257
complement(592)-t, cdbSNP:371185170
614+g, tdbSNP:121918253
complement(631)-g, cdbSNP:368780480
complement(658)-dbSNP:
complement(658)-t, cdbSNP:145682249
complement(703)-g, adbSNP:200735240
complement(726)-t, cdbSNP:142068898
complement(756)-t, adbSNP:201477610
complement(759)-t, cdbSNP:199668104
complement(778)-t, gdbSNP:200617069
complement(821)-t, cdbSNP:148331800
complement(831)-t, cdbSNP:200908035
complement(885)-c, adbSNP:144034003
901+a, gdbSNP:2229384
908+a, gdbSNP:121918258
920+a, tdbSNP:121918256
complement(947)-g, adbSNP:200596762
complement(976)-t, cdbSNP:138085432
complement(986)-t, cdbSNP:145586906
complement(1021)-dbSNP:
complement(1021)-g, adbSNP:376716145
complement(1040)-t, cdbSNP:201459583
complement(1046)-t, cdbSNP:375054307
complement(1093)-t, cdbSNP:12175488
1101+a, gdbSNP:2228282
complement(1143)-t, cdbSNP:138374956
complement(1177)-dbSNP:
complement(1177)-t, cdbSNP:201311681
complement(1215)-g, adbSNP:184829210
complement(1273)-t, cdbSNP:150095448
complement(1301)-t, gdbSNP:140775584
complement(1373)-dbSNP:
complement(1373)-t, gdbSNP:368790885
complement(1380)-g, adbSNP:150968643
complement(1390)-t, cdbSNP:148091558
1395+a, cdbSNP:121918250
complement(1471)-c, adbSNP:142539215
complement(1529)-t, cdbSNP:186505851
complement(1535)-g, adbSNP:373381232
complement(1551)-t, cdbSNP:201741770
complement(1562)-g, adbSNP:375604969
complement(1570)-t, adbSNP:372277433
complement(1610)-dbSNP:
complement(1610)-t, cdbSNP:200726800
complement(1665)-t, cdbSNP:147737629
complement(1667)-t, cdbSNP:145677661
complement(1670)-t, cdbSNP:200850870
complement(1682)-c, adbSNP:188766510
complement(1686)-t, cdbSNP:368746965
1720+dbSNP:
1720+a, gdbSNP:1803946
complement(1758)-t, cdbSNP:377604600
1760+a, gdbSNP:2229385
complement(1776)-g, cdbSNP:375164316
complement(1804)-t, cdbSNP:201483594
complement(1824)-t, gdbSNP:199655896
complement(1830)-dbSNP:
complement(1830)-t, cdbSNP:144665233
complement(1835)-t, cdbSNP:372988725
1860+a, c, gdbSNP:1141321
complement(1863)-t, cdbSNP:139765234
complement(1872)-g, adbSNP:369902876
complement(1894)-g, adbSNP:150642856
complement(1895)-t, cdbSNP:78150750
complement(1999)-dbSNP:
complement(1999)-t, cdbSNP:139323928
complement(2023)-t, cdbSNP:201138975
complement(2027)-g, adbSNP:140727018
complement(2028)-c, adbSNP:141829043
complement(2042)-g, cdbSNP:148285323
complement(2057)-t, cdbSNP:9473556
complement(2066)-t, cdbSNP:201888226
complement(2103)-dbSNP:
complement(2103)-t, cdbSNP:368690932
complement(2107)-t, cdbSNP:200996892
2117..2119+, cttdbSNP:398123277
complement(2130)-g, adbSNP:201536536
2132+a, gdbSNP:121918254
complement(2145)-t, cdbSNP:372486357
complement(2154)-t, cdbSNP:143023066
complement(2163)-c, adbSNP:200055428
2217+c, tdbSNP:1136145
complement(2224)-dbSNP:
complement(2224)-g, adbSNP:149460386
complement(2234)-c, adbSNP:370718165
complement(2256)-g, adbSNP:137958217
complement(2257)-t, cdbSNP:144146728
2276+a, gdbSNP:8589
complement(2288)-t, cdbSNP:367850243
complement(2290)-g, adbSNP:373708083
complement(2291)-t, cdbSNP:147715336
complement(2298)-t, cdbSNP:147094927
complement(2311)-g, adbSNP:201456803
complement(2364)-t, adbSNP:140600746
2372+c, gdbSNP:121918255
complement(2395)-g, adbSNP:375956047
complement(2402)-t, gdbSNP:188796821
2415+g, tdbSNP:121918252
complement(2461)-g, adbSNP:201963242
complement(2483)-t, cdbSNP:372245965
2548+a, gdbSNP:14341
complement(2552)-t, cdbSNP:199933641
complement(2569)-g, cdbSNP:199521080
complement(2619)-t, cdbSNP:113025987
2626+a, cdbSNP:1803945
complement(2644)-t, cdbSNP:192605776
complement(2711)-t, adbSNP:76470114
complement(2719)-, tdbSNP:10713340
complement(2775)-t, gdbSNP:187747098
complement(2796)-t, cdbSNP:182726681
complement(2797)-g, adbSNP:192552805
complement(2799)-t, cdbSNP:144168425
complement(2821)-g, adbSNP:113362290
2833+c, gdbSNP:1141333
2892+c, gdbSNP:1141334
2947+a, tdbSNP:1141335
complement(3047)-t, cdbSNP:187987243
complement(3063)-t, gdbSNP:74854132
complement(3076)-t, cdbSNP:111322712
complement(3093)-t, g, cdbSNP:190188528
complement(3098)-t, cdbSNP:11757098
complement(3199)-g, adbSNP:186205803
complement(3315)-c, adbSNP:377179859
3344+c, tdbSNP:139283545
complement(3611)-t, cdbSNP:146257268
complement(3625..3626)-, tdbSNP:71777574
complement(3844)-t, cdbSNP:9381784
Gene SymbolMUT
Gene SynonymMCM
Chromosome6
Locus Map6p12.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000255 Homo sapiens methylmalonyl CoA mutase (MUT), mRNA. On-demand $279.00 12-14
XM_005249143 PREDICTED: Homo sapiens methylmalonyl CoA mutase (MUT), transcript variant X1, mRNA. On-demand $279.00 12-14
Title A switch III motif relays signaling between a B12 enzyme and its G-protein chaperone .
Author Lofgren M, Padovani D, Koutmos M and Banerjee R.
Journal Nat. Chem. Biol. 9 (9), 535-539 (2013)
Title Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease .
Author van Meurs JB, Pare G, Schwartz SM, Hazra A, Tanaka T, Vermeulen SH, Cotlarciuc I, Yuan X, Malarstig A, Bandinelli S, Bis JC, Blom H, Brown MJ, Chen C, Chen YD, Clarke RJ, Dehghan A, Erdmann J, Ferrucci L, Hamsten A, Hofman A, Hunter DJ, Goel A, Johnson AD, Kathiresan S, Kampman E, Kiel DP, Kiemeney LA, Chambers JC, Kraft P, Lindemans J, McKnight B, Nelson CP, O'Donnell CJ, Psaty BM, Ridker PM, Rivadeneira F, Rose LM, Seedorf U, Siscovick DS, Schunkert H, Selhub J, Ueland PM, Vollenweider P, Waeber G, Waterworth DM, Watkins H, Witteman JC, den Heijer M, Jacques P, Uitterlinden AG, Kooner JS, Rader DJ, Reilly MP, Mooser V, Chasman DI, Samani NJ and Ahmadi KR.
Journal Am. J. Clin. Nutr. 98 (3), 668-676 (2013)
Title Mutagenesis of a conserved glutamate reveals the contribution of electrostatic energy to adenosylcobalamin co-C bond homolysis in ornithine 4,5-aminomutase and methylmalonyl-CoA mutase .
Author Makins C, Pickering AV, Mariani C and Wolthers KR.
Journal Biochemistry 52 (5), 878-888 (2013)
Title [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia] .
Author Mendez ST, Vela-Amieva M, Velazquez-Arellano A, Ibarra I and Flores ME.
Journal Rev. Invest. Clin. 64 (3), 255-261 (2012)
Title Methylmalonic Acidemia .
Author Manoli,I. and Venditti,C.P.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title The Organic Acidemias: An Overview .
Author Seashore,M.R.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase .
Author Crane AM, Martin LS, Valle D and Ledley FD.
Journal Hum. Genet. 89 (3), 259-264 (1992)
Title Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria .
Author Crane AM, Jansen R, Andrews ER and Ledley FD.
Journal J. Clin. Invest. 89 (2), 385-391 (1992)
Title Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation .
Author Raff ML, Crane AM, Jansen R, Ledley FD and Rosenblatt DS.
Journal J. Clin. Invest. 87 (1), 203-207 (1991)
Title Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats .
Author Frenkel,E.P. and Kitchens,R.L.
Journal Br. J. Haematol. 31 (4), 501-513 (1975)

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