• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Services Price Order
NM_000255 Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA. ORF Sequence $653.37
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_000255.3, 296010795
Length 3886 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, 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)389..2497
Misc Feature(3)389..1987
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
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
complement(68)-dbSNP:
complement(68)-t, adbSNP: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
complement(297)-g, adbSNP:147328233
complement(317)-t, cdbSNP:121918248
complement(454)-t, gdbSNP:145324686
complement(470)-t, cdbSNP:115923556
complement(506)-g, adbSNP:150841850
complement(543)-g, adbSNP:121918251
complement(549)-g, adbSNP:190834116
complement(550)-t, cdbSNP:113008304
complement(578)-t, cdbSNP:121918249
complement(587)-t, cdbSNP:121918257
complement(614)-t, gdbSNP:121918253
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
complement(901)-g, adbSNP:2229384
complement(908)-g, adbSNP:121918258
complement(920)-t, adbSNP:121918256
complement(947)-g, adbSNP:200596762
complement(976)-t, cdbSNP:138085432
complement(986)-t, cdbSNP:145586906
complement(1040)-dbSNP:
complement(1040)-t, cdbSNP:201459583
complement(1093)-t, cdbSNP:12175488
complement(1101)-g, adbSNP: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(1380)-dbSNP:
complement(1380)-g, adbSNP:150968643
complement(1390)-t, cdbSNP:148091558
complement(1395)-c, adbSNP:121918250
complement(1471)-c, adbSNP:142539215
complement(1529)-t, cdbSNP:186505851
complement(1551)-t, cdbSNP:201741770
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(1720)-dbSNP:
complement(1720)-g, adbSNP:1803946
complement(1760)-g, adbSNP:2229385
complement(1804)-t, cdbSNP:201483594
complement(1824)-t, gdbSNP:199655896
complement(1830)-dbSNP:
complement(1830)-t, cdbSNP:144665233
complement(1860)-g, c, adbSNP:1141321
complement(1863)-t, cdbSNP:139765234
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(2107)-dbSNP:
complement(2107)-t, cdbSNP:200996892
complement(2130)-g, adbSNP:201536536
complement(2132)-g, adbSNP:121918254
complement(2154)-t, cdbSNP:143023066
complement(2163)-c, adbSNP:200055428
complement(2217)-t, cdbSNP:1136145
complement(2224)-dbSNP:
complement(2224)-g, adbSNP:149460386
complement(2256)-g, adbSNP:137958217
complement(2257)-t, cdbSNP:144146728
complement(2276)-g, adbSNP:8589
complement(2291)-t, cdbSNP:147715336
complement(2298)-t, cdbSNP:147094927
complement(2311)-g, adbSNP:201456803
complement(2364)-t, adbSNP:140600746
complement(2372)-g, cdbSNP:121918255
complement(2402)-t, gdbSNP:188796821
complement(2415)-t, gdbSNP:121918252
complement(2461)-g, adbSNP:201963242
complement(2548)-g, adbSNP:14341
complement(2552)-t, cdbSNP:199933641
complement(2569)-g, cdbSNP:199521080
complement(2619)-t, cdbSNP:113025987
complement(2626)-c, adbSNP: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
complement(2833)-g, cdbSNP:1141333
complement(2892)-g, cdbSNP:1141334
complement(2947)-t, adbSNP:1141335
complement(3047)-t, cdbSNP:187987243
complement(3063)-t, gdbSNP:74854132
complement(3076)-t, cdbSNP:111322712
complement(3093)-t, gdbSNP:190188528
complement(3098)-t, cdbSNP:11757098
complement(3199)-g, adbSNP:186205803
complement(3344)-t, cdbSNP:139283545
complement(3611)-t, cdbSNP:146257268
complement(3624..3625)-, tdbSNP:71777574
complement(3626..3627)-, tdbSNP:76854879
complement(3844)-t, cdbSNP:9381784
Gene SymbolMUT
Gene SynonymMCM
Chromosome6
Locus Map6p12.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000255 Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA. Full Length $1360.10
ORF Sequence $653.37
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,A.V., Mariani,C. and Wolthers,K.R.
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,S.T., Vela-Amieva,M., Velazquez-Arellano,A., Ibarra,I. and Flores,M.E.
Journal Rev. Invest. Clin. 64 (3), 255-261 (2012)
Title Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase .
Author Lofgren,M. and Banerjee,R.
Journal Biochemistry 50 (25), 5790-5798 (2011)
Title Protection and reactivation of human methylmalonyl-CoA mutase by .
Author Takahashi-Iniguez,T., Garcia-Arellano,H., Trujillo-Roldan,M.A. and Flores,M.E.
Journal Biochem. Biophys. Res. Commun. 404 (1), 443-447 (2011)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase .
Author Crane,A.M., Martin,L.S., Valle,D. and Ledley,F.D.
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,A.M., Jansen,R., Andrews,E.R. and Ledley,F.D.
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,M.L., Crane,A.M., Jansen,R., Ledley,F.D. and Rosenblatt,D.S.
Journal J. Clin. Invest. 87 (1), 203-207 (1991)
Title Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning .
Author Jansen,R. and Ledley,F.D.
Journal Am. J. Hum. Genet. 47 (5), 808-814 (1990)
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)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

Secured Online Quotation
Email: gene@genscript.com
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188
Fax: 1-732-210-0262 1-732-885-5878