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MUT cDNA ORF clone, Homo sapiens(Human)

Gene Symbol MUT
Entrez Gene ID 4594
Full Name methylmalonyl-CoA mutase
Synonyms MCM
General protein information
Preferred Names

methylmalonyl-CoA mutase

Names

methylmalonyl-CoA mutase, mitochondrial
methylmalonyl Coenzyme A mutase
methylmalonyl-CoA isomerase
mutant methylmalonyl CoA mutase
truncated methylmalonyl CoA mutase

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

6

6p12.3

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].
Disorder MIM:

609058

Disorder Html: Methylmalonic aciduria, mut(0) type, 251000 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_000255.3 NP_000246.2 methylmalonyl-CoA mutase, mitochondrial precursor
XM_005249143.3 XP_005249200.1 methylmalonyl-CoA mutase, mitochondrial isoform X1



Rattus norvegicus (Norway rat) Mut XP_006244706.1
Gallus gallus (chicken) MUT XP_004935974.1
Danio rerio (zebrafish) mut NP_001092696.1
Caenorhabditis elegans (roundworm) mmcm-1 NP_497786.2
Mus musculus (house mouse) Mut NP_032676.2
Canis lupus familiaris (dog) MUT XP_532164.3
Pan troglodytes (chimpanzee) MUT XP_001146876.1
Macaca mulatta (rhesus monkey) MUT XP_001104531.1
Homo sapiens (human) MUT NP_000246.2
Bos taurus (cattle) MUT NP_776364.2
Xenopus tropicalis (tropical clawed frog) mut XP_004915010.1


Related articles in PubMed

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
Han LS, Huang Z, Han F, Wang Y, Gong ZW, Gu XF
World journal of pediatrics : WJP13(4)381-386(2017 Aug)

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny P, Schnellmann AS, Buerer C, Lutz S, Fowler B, Froese DS, Baumgartner MR
Human mutation37(8)745-54(2016 Aug)

[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
Xie B, Luo J, Fan X, Chen R, Wang J, Zhang S, Li W, Chen S
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics33(2)135-9(2016 Apr)

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M
Cell164(4)805-17(2016 Feb)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants
Title: Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), are associated with methylmalonic academia in a Chinese family.
Title: [Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].

a novel splice site mutation in intron 12 of the MUT gene is a potential highly pathogenic allele via inhibition of alternative splicing leading to Methylmalonic aciduria.
Title: Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.

3 Patients with Isolated methylmalonic acidemia lacked methylmalonyl-CoA mutase (MCM) activity and had no MCM band, patients with the cobalamin defects had high MCM activity levels and an intense MCM band at about 83 kDa, in comparison to those in their parents.
Title: Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

In methylmalonic acidemia,a total of 10 novel MUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation.
Title: Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

The following MUT gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MUT cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu25184 NM_000255.3
Latest version!
Homo sapiens methylmalonyl-CoA mutase (MUT), mRNA. pcDNA3.1+/C-(K)DYK or customized vector 12-14 $265.30
$379.00
OHu25184 XM_005249143.3
Latest version!
Homo sapiens methylmalonyl-CoA mutase (MUT), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 12-14 $265.30
$379.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu25184
Clone ID Related Accession (Same CDS sequence) NM_000255.3 , XM_005249143.3
Accession Version NM_000255.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 2253bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-15
Organism Homo sapiens(Human)
Product methylmalonyl-CoA mutase, mitochondrial precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA777441.1, AK292568.1, AK312611.1 and AL590668.5. This sequence is a reference standard in the RefSeqGene project. On May 13, 2010 this sequence version replaced NM_000255.2. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK292568.1, M65131.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
ATGTTAAGAG CTAAGAATCA GCTTTTTTTA CTTTCACCTC ATTACCTGAG GCAGGTAAAA 
GAATCATCAG GCTCCAGGCT CATACAGCAA CGACTTCTAC ACCAGCAACA GCCCCTTCAC
CCAGAATGGG CTGCCCTGGC TAAAAAGCAG CTGAAAGGCA AAAACCCAGA AGACCTAATA
TGGCACACCC CGGAAGGGAT CTCTATAAAA CCCTTGTATT CCAAGAGAGA TACTATGGAC
TTACCTGAAG AACTTCCAGG AGTGAAGCCA TTCACACGTG GACCATATCC TACCATGTAT
ACCTTTAGGC CCTGGACCAT CCGCCAGTAT GCTGGTTTTA GTACTGTGGA AGAAAGCAAT
AAGTTCTATA AGGACAACAT TAAGGCTGGT CAGCAGGGAT TATCAGTTGC CTTTGATCTG
GCGACACATC GTGGCTATGA TTCAGACAAC CCTCGAGTTC GTGGTGATGT TGGAATGGCT
GGAGTTGCTA TTGACACTGT GGAAGATACC AAAATTCTTT TTGATGGAAT TCCTTTAGAA
AAAATGTCAG TTTCCATGAC TATGAATGGA GCAGTTATTC CAGTTCTTGC AAATTTTATA
GTAACTGGAG AAGAACAAGG TGTACCTAAA GAGAAGCTTA CTGGTACCAT CCAAAATGAT
ATACTAAAGG AATTTATGGT TCGAAATACA TACATTTTTC CTCCAGAACC ATCCATGAAA
ATTATTGCTG ACATATTTGA ATATACAGCA AAGCACATGC CAAAATTTAA TTCAATTTCA
ATTAGTGGAT ACCATATGCA GGAAGCAGGG GCTGATGCCA TTCTGGAGCT GGCCTATACT
TTAGCAGATG GATTGGAGTA CTCTAGAACT GGACTCCAGG CTGGCCTGAC AATTGATGAA
TTTGCACCAA GGTTGTCTTT CTTCTGGGGA ATTGGAATGA ATTTCTATAT GGAAATAGCA
AAGATGAGAG CTGGTAGAAG ACTCTGGGCT CACTTAATAG AGAAAATGTT TCAGCCTAAA
AACTCAAAAT CTCTTCTTCT AAGAGCACAC TGTCAGACAT CTGGATGGTC ACTTACTGAG
CAGGATCCCT ACAATAATAT TGTCCGTACT GCAATAGAAG CAATGGCAGC AGTATTTGGA
GGGACTCAGT CTTTGCACAC AAATTCTTTT GATGAAGCTT TGGGTTTGCC AACTGTGAAA
AGTGCTCGAA TTGCCAGGAA CACACAAATC ATCATTCAAG AAGAATCTGG GATTCCCAAA
GTGGCTGATC CTTGGGGAGG TTCTTACATG ATGGAATGTC TCACAAATGA TGTTTATGAT
GCTGCTTTAA AGCTCATTAA TGAAATTGAA GAAATGGGTG GAATGGCCAA AGCTGTAGCT
GAGGGAATAC CTAAACTTCG AATTGAAGAA TGTGCTGCCC GAAGACAAGC TAGAATAGAT
TCTGGTTCTG AAGTAATTGT TGGAGTAAAT AAGTACCAGT TGGAAAAAGA AGACGCTGTA
GAAGTTCTGG CAATTGATAA TACTTCAGTG CGAAACAGGC AGATTGAAAA ACTTAAGAAG
ATCAAATCCA GCAGGGATCA AGCTTTGGCT GAACGTTGTC TTGCTGCACT AACCGAATGT
GCTGCTAGCG GAGATGGAAA TATCCTGGCT CTTGCAGTGG ATGCATCTCG GGCAAGATGT
ACAGTGGGAG AAATCACAGA TGCCCTGAAA AAGGTATTTG GTGAACATAA AGCGAATGAT
CGAATGGTGA GTGGAGCATA TCGCCAGGAA TTTGGAGAAA GTAAAGAGAT AACATCTGCT
ATCAAGAGGG TTCATAAATT CATGGAACGT GAAGGTCGCA GACCTCGTCT TCTTGTAGCA
AAAATGGGAC AAGATGGCCA TGACAGAGGA GCAAAAGTTA TTGCTACAGG ATTTGCTGAT
CTTGGTTTTG ATGTGGACAT AGGCCCTCTT TTCCAGACTC CTCGTGAAGT GGCCCAGCAG
GCTGTGGATG CGGATGTGCA TGCTGTGGGC ATAAGCACCC TCGCTGCTGG TCATAAAACC
CTAGTTCCTG AACTCATCAA AGAACTTAAC TCCCTTGGAC GGCCAGATAT TCTTGTCATG
TGTGGAGGGG TGATACCACC TCAGGATTAT GAATTTCTGT TTGAAGTTGG TGTTTCCAAT
GTATTTGGTC CTGGGACTCG AATTCCAAAG GCTGCCGTTC AGGTGCTTGA TGATATTGAG
AAGTGTTTGG AAAAGAAGCA GCAATCTGTA TAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000246.2
CDS266..2518
Misc Feature(1)89..91
Misc Feature(2)383..1987
Misc Feature(3)386..2497
Misc Feature(4)530..532
Misc Feature(5)order(551..553,557..562,572..574,581..583,587..589,593..595,668..670,677..679,683..685,692..694,743..745,818..820,824..826,911..913,944..949,1058..1060,1067..1069,1175..1177,1181..1183,1187..1189,1307..1309,1313..1315,1319..1321,1328..1333,1412..1414,1439..1441,1448..1453)
Misc Feature(6)order(551..553,557..562,572..574,581..583,587..589,593..595,668..670,818..820,824..826,911..913,947..949,1055..1060,1175..1177,1181..1183,1187..1189,1307..1309,1313..1315,1319..1321,1412..1414)
Misc Feature(7)order(593..595,677..679,683..685,692..694,743..745,944..949,953..955,1067..1069,1328..1333,1439..1444,1448..1453)
Misc Feature(8)899..901
Misc Feature(9)1268..1270
Misc Feature(10)1292..1294
Misc Feature(11)1706..1708
Misc Feature(12)2048..2050
Misc Feature(13)2069..2071
Misc Feature(14)2102..2497
Misc Feature(15)order(2135..2155,2162..2164,2273..2281,2285..2293,2375..2377,2429..2431,2438..2440,2456..2458)
Misc Feature(16)2144..2146
Exon (1)1..226
Exon (2)227..650
Exon (3)651..1018
Exon (4)1019..1176
Exon (5)1177..1348
Exon (6)1349..1597
Exon (7)1598..1709
Exon (8)1710..1825
Exon (9)1826..1941
Exon (10)1942..2073
Exon (11)2074..2221
Exon (12)2222..2389
Exon (13)2390..3886
Translation

Target ORF information:

RefSeq Version NM_000255.3
Organism Homo sapiens(Human)
Definition Homo sapiens methylmalonyl-CoA mutase (MUT), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000255.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
ATGTTAAGAG CTAAGAATCA GCTTTTTTTA CTTTCACCTC ATTACCTGAG GCAGGTAAAA 
GAATCATCAG GCTCCAGGCT CATACAGCAA CGACTTCTAC ACCAGCAACA GCCCCTTCAC
CCAGAATGGG CTGCCCTGGC TAAAAAGCAG CTGAAAGGCA AAAACCCAGA AGACCTAATA
TGGCACACCC CGGAAGGGAT CTCTATAAAA CCCTTGTATT CCAAGAGAGA TACTATGGAC
TTACCTGAAG AACTTCCAGG AGTGAAGCCA TTCACACGTG GACCATATCC TACCATGTAT
ACCTTTAGGC CCTGGACCAT CCGCCAGTAT GCTGGTTTTA GTACTGTGGA AGAAAGCAAT
AAGTTCTATA AGGACAACAT TAAGGCTGGT CAGCAGGGAT TATCAGTTGC CTTTGATCTG
GCGACACATC GTGGCTATGA TTCAGACAAC CCTCGAGTTC GTGGTGATGT TGGAATGGCT
GGAGTTGCTA TTGACACTGT GGAAGATACC AAAATTCTTT TTGATGGAAT TCCTTTAGAA
AAAATGTCAG TTTCCATGAC TATGAATGGA GCAGTTATTC CAGTTCTTGC AAATTTTATA
GTAACTGGAG AAGAACAAGG TGTACCTAAA GAGAAGCTTA CTGGTACCAT CCAAAATGAT
ATACTAAAGG AATTTATGGT TCGAAATACA TACATTTTTC CTCCAGAACC ATCCATGAAA
ATTATTGCTG ACATATTTGA ATATACAGCA AAGCACATGC CAAAATTTAA TTCAATTTCA
ATTAGTGGAT ACCATATGCA GGAAGCAGGG GCTGATGCCA TTCTGGAGCT GGCCTATACT
TTAGCAGATG GATTGGAGTA CTCTAGAACT GGACTCCAGG CTGGCCTGAC AATTGATGAA
TTTGCACCAA GGTTGTCTTT CTTCTGGGGA ATTGGAATGA ATTTCTATAT GGAAATAGCA
AAGATGAGAG CTGGTAGAAG ACTCTGGGCT CACTTAATAG AGAAAATGTT TCAGCCTAAA
AACTCAAAAT CTCTTCTTCT AAGAGCACAC TGTCAGACAT CTGGATGGTC ACTTACTGAG
CAGGATCCCT ACAATAATAT TGTCCGTACT GCAATAGAAG CAATGGCAGC AGTATTTGGA
GGGACTCAGT CTTTGCACAC AAATTCTTTT GATGAAGCTT TGGGTTTGCC AACTGTGAAA
AGTGCTCGAA TTGCCAGGAA CACACAAATC ATCATTCAAG AAGAATCTGG GATTCCCAAA
GTGGCTGATC CTTGGGGAGG TTCTTACATG ATGGAATGTC TCACAAATGA TGTTTATGAT
GCTGCTTTAA AGCTCATTAA TGAAATTGAA GAAATGGGTG GAATGGCCAA AGCTGTAGCT
GAGGGAATAC CTAAACTTCG AATTGAAGAA TGTGCTGCCC GAAGACAAGC TAGAATAGAT
TCTGGTTCTG AAGTAATTGT TGGAGTAAAT AAGTACCAGT TGGAAAAAGA AGACGCTGTA
GAAGTTCTGG CAATTGATAA TACTTCAGTG CGAAACAGGC AGATTGAAAA ACTTAAGAAG
ATCAAATCCA GCAGGGATCA AGCTTTGGCT GAACGTTGTC TTGCTGCACT AACCGAATGT
GCTGCTAGCG GAGATGGAAA TATCCTGGCT CTTGCAGTGG ATGCATCTCG GGCAAGATGT
ACAGTGGGAG AAATCACAGA TGCCCTGAAA AAGGTATTTG GTGAACATAA AGCGAATGAT
CGAATGGTGA GTGGAGCATA TCGCCAGGAA TTTGGAGAAA GTAAAGAGAT AACATCTGCT
ATCAAGAGGG TTCATAAATT CATGGAACGT GAAGGTCGCA GACCTCGTCT TCTTGTAGCA
AAAATGGGAC AAGATGGCCA TGACAGAGGA GCAAAAGTTA TTGCTACAGG ATTTGCTGAT
CTTGGTTTTG ATGTGGACAT AGGCCCTCTT TTCCAGACTC CTCGTGAAGT GGCCCAGCAG
GCTGTGGATG CGGATGTGCA TGCTGTGGGC ATAAGCACCC TCGCTGCTGG TCATAAAACC
CTAGTTCCTG AACTCATCAA AGAACTTAAC TCCCTTGGAC GGCCAGATAT TCTTGTCATG
TGTGGAGGGG TGATACCACC TCAGGATTAT GAATTTCTGT TTGAAGTTGG TGTTTCCAAT
GTATTTGGTC CTGGGACTCG AATTCCAAAG GCTGCCGTTC AGGTGCTTGA TGATATTGAG
AAGTGTTTGG AAAAGAAGCA GCAATCTGTA TAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu25184
Clone ID Related Accession (Same CDS sequence) NM_000255.3 , XM_005249143.3
Accession Version XM_005249143.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 2253bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-06-06
Organism Homo sapiens(Human)
Product methylmalonyl-CoA mutase, mitochondrial isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000006.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process On Jun 6, 2016 this sequence version replaced XM_005249143.2. ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
ATGTTAAGAG CTAAGAATCA GCTTTTTTTA CTTTCACCTC ATTACCTGAG GCAGGTAAAA 
GAATCATCAG GCTCCAGGCT CATACAGCAA CGACTTCTAC ACCAGCAACA GCCCCTTCAC
CCAGAATGGG CTGCCCTGGC TAAAAAGCAG CTGAAAGGCA AAAACCCAGA AGACCTAATA
TGGCACACCC CGGAAGGGAT CTCTATAAAA CCCTTGTATT CCAAGAGAGA TACTATGGAC
TTACCTGAAG AACTTCCAGG AGTGAAGCCA TTCACACGTG GACCATATCC TACCATGTAT
ACCTTTAGGC CCTGGACCAT CCGCCAGTAT GCTGGTTTTA GTACTGTGGA AGAAAGCAAT
AAGTTCTATA AGGACAACAT TAAGGCTGGT CAGCAGGGAT TATCAGTTGC CTTTGATCTG
GCGACACATC GTGGCTATGA TTCAGACAAC CCTCGAGTTC GTGGTGATGT TGGAATGGCT
GGAGTTGCTA TTGACACTGT GGAAGATACC AAAATTCTTT TTGATGGAAT TCCTTTAGAA
AAAATGTCAG TTTCCATGAC TATGAATGGA GCAGTTATTC CAGTTCTTGC AAATTTTATA
GTAACTGGAG AAGAACAAGG TGTACCTAAA GAGAAGCTTA CTGGTACCAT CCAAAATGAT
ATACTAAAGG AATTTATGGT TCGAAATACA TACATTTTTC CTCCAGAACC ATCCATGAAA
ATTATTGCTG ACATATTTGA ATATACAGCA AAGCACATGC CAAAATTTAA TTCAATTTCA
ATTAGTGGAT ACCATATGCA GGAAGCAGGG GCTGATGCCA TTCTGGAGCT GGCCTATACT
TTAGCAGATG GATTGGAGTA CTCTAGAACT GGACTCCAGG CTGGCCTGAC AATTGATGAA
TTTGCACCAA GGTTGTCTTT CTTCTGGGGA ATTGGAATGA ATTTCTATAT GGAAATAGCA
AAGATGAGAG CTGGTAGAAG ACTCTGGGCT CACTTAATAG AGAAAATGTT TCAGCCTAAA
AACTCAAAAT CTCTTCTTCT AAGAGCACAC TGTCAGACAT CTGGATGGTC ACTTACTGAG
CAGGATCCCT ACAATAATAT TGTCCGTACT GCAATAGAAG CAATGGCAGC AGTATTTGGA
GGGACTCAGT CTTTGCACAC AAATTCTTTT GATGAAGCTT TGGGTTTGCC AACTGTGAAA
AGTGCTCGAA TTGCCAGGAA CACACAAATC ATCATTCAAG AAGAATCTGG GATTCCCAAA
GTGGCTGATC CTTGGGGAGG TTCTTACATG ATGGAATGTC TCACAAATGA TGTTTATGAT
GCTGCTTTAA AGCTCATTAA TGAAATTGAA GAAATGGGTG GAATGGCCAA AGCTGTAGCT
GAGGGAATAC CTAAACTTCG AATTGAAGAA TGTGCTGCCC GAAGACAAGC TAGAATAGAT
TCTGGTTCTG AAGTAATTGT TGGAGTAAAT AAGTACCAGT TGGAAAAAGA AGACGCTGTA
GAAGTTCTGG CAATTGATAA TACTTCAGTG CGAAACAGGC AGATTGAAAA ACTTAAGAAG
ATCAAATCCA GCAGGGATCA AGCTTTGGCT GAACGTTGTC TTGCTGCACT AACCGAATGT
GCTGCTAGCG GAGATGGAAA TATCCTGGCT CTTGCAGTGG ATGCATCTCG GGCAAGATGT
ACAGTGGGAG AAATCACAGA TGCCCTGAAA AAGGTATTTG GTGAACATAA AGCGAATGAT
CGAATGGTGA GTGGAGCATA TCGCCAGGAA TTTGGAGAAA GTAAAGAGAT AACATCTGCT
ATCAAGAGGG TTCATAAATT CATGGAACGT GAAGGTCGCA GACCTCGTCT TCTTGTAGCA
AAAATGGGAC AAGATGGCCA TGACAGAGGA GCAAAAGTTA TTGCTACAGG ATTTGCTGAT
CTTGGTTTTG ATGTGGACAT AGGCCCTCTT TTCCAGACTC CTCGTGAAGT GGCCCAGCAG
GCTGTGGATG CGGATGTGCA TGCTGTGGGC ATAAGCACCC TCGCTGCTGG TCATAAAACC
CTAGTTCCTG AACTCATCAA AGAACTTAAC TCCCTTGGAC GGCCAGATAT TCTTGTCATG
TGTGGAGGGG TGATACCACC TCAGGATTAT GAATTTCTGT TTGAAGTTGG TGTTTCCAAT
GTATTTGGTC CTGGGACTCG AATTCCAAAG GCTGCCGTTC AGGTGCTTGA TGATATTGAG
AAGTGTTTGG AAAAGAAGCA GCAATCTGTA TAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq XP_005249200.1
CDS171..2423
Misc Feature(1)288..1892
Misc Feature(2)291..2402
Misc Feature(3)order(456..458,462..467,477..479,486..488,492..494,498..500,573..575,582..584,588..590,597..599,648..650,723..725,729..731,816..818,849..854,963..965,972..974,1080..1082,1086..1088,1092..1094,1212..1214,1218..1220,1224..1226,1233..1238,1317..1319,1344..1346,1353..1358)
Misc Feature(4)order(456..458,462..467,477..479,486..488,492..494,498..500,573..575,723..725,729..731,816..818,852..854,960..965,1080..1082,1086..1088,1092..1094,1212..1214,1218..1220,1224..1226,1317..1319)
Misc Feature(5)order(498..500,582..584,588..590,597..599,648..650,849..854,858..860,972..974,1233..1238,1344..1349,1353..1358)
Misc Feature(6)2007..2402
Misc Feature(7)order(2040..2060,2067..2069,2178..2186,2190..2198,2280..2282,2334..2336,2343..2345,2361..2363)
Misc Feature(8)2049..2051
Translation

Target ORF information:

RefSeq Version XM_005249143.3
Organism Homo sapiens(Human)
Definition Homo sapiens methylmalonyl-CoA mutase (MUT), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_005249143.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
ATGTTAAGAG CTAAGAATCA GCTTTTTTTA CTTTCACCTC ATTACCTGAG GCAGGTAAAA 
GAATCATCAG GCTCCAGGCT CATACAGCAA CGACTTCTAC ACCAGCAACA GCCCCTTCAC
CCAGAATGGG CTGCCCTGGC TAAAAAGCAG CTGAAAGGCA AAAACCCAGA AGACCTAATA
TGGCACACCC CGGAAGGGAT CTCTATAAAA CCCTTGTATT CCAAGAGAGA TACTATGGAC
TTACCTGAAG AACTTCCAGG AGTGAAGCCA TTCACACGTG GACCATATCC TACCATGTAT
ACCTTTAGGC CCTGGACCAT CCGCCAGTAT GCTGGTTTTA GTACTGTGGA AGAAAGCAAT
AAGTTCTATA AGGACAACAT TAAGGCTGGT CAGCAGGGAT TATCAGTTGC CTTTGATCTG
GCGACACATC GTGGCTATGA TTCAGACAAC CCTCGAGTTC GTGGTGATGT TGGAATGGCT
GGAGTTGCTA TTGACACTGT GGAAGATACC AAAATTCTTT TTGATGGAAT TCCTTTAGAA
AAAATGTCAG TTTCCATGAC TATGAATGGA GCAGTTATTC CAGTTCTTGC AAATTTTATA
GTAACTGGAG AAGAACAAGG TGTACCTAAA GAGAAGCTTA CTGGTACCAT CCAAAATGAT
ATACTAAAGG AATTTATGGT TCGAAATACA TACATTTTTC CTCCAGAACC ATCCATGAAA
ATTATTGCTG ACATATTTGA ATATACAGCA AAGCACATGC CAAAATTTAA TTCAATTTCA
ATTAGTGGAT ACCATATGCA GGAAGCAGGG GCTGATGCCA TTCTGGAGCT GGCCTATACT
TTAGCAGATG GATTGGAGTA CTCTAGAACT GGACTCCAGG CTGGCCTGAC AATTGATGAA
TTTGCACCAA GGTTGTCTTT CTTCTGGGGA ATTGGAATGA ATTTCTATAT GGAAATAGCA
AAGATGAGAG CTGGTAGAAG ACTCTGGGCT CACTTAATAG AGAAAATGTT TCAGCCTAAA
AACTCAAAAT CTCTTCTTCT AAGAGCACAC TGTCAGACAT CTGGATGGTC ACTTACTGAG
CAGGATCCCT ACAATAATAT TGTCCGTACT GCAATAGAAG CAATGGCAGC AGTATTTGGA
GGGACTCAGT CTTTGCACAC AAATTCTTTT GATGAAGCTT TGGGTTTGCC AACTGTGAAA
AGTGCTCGAA TTGCCAGGAA CACACAAATC ATCATTCAAG AAGAATCTGG GATTCCCAAA
GTGGCTGATC CTTGGGGAGG TTCTTACATG ATGGAATGTC TCACAAATGA TGTTTATGAT
GCTGCTTTAA AGCTCATTAA TGAAATTGAA GAAATGGGTG GAATGGCCAA AGCTGTAGCT
GAGGGAATAC CTAAACTTCG AATTGAAGAA TGTGCTGCCC GAAGACAAGC TAGAATAGAT
TCTGGTTCTG AAGTAATTGT TGGAGTAAAT AAGTACCAGT TGGAAAAAGA AGACGCTGTA
GAAGTTCTGG CAATTGATAA TACTTCAGTG CGAAACAGGC AGATTGAAAA ACTTAAGAAG
ATCAAATCCA GCAGGGATCA AGCTTTGGCT GAACGTTGTC TTGCTGCACT AACCGAATGT
GCTGCTAGCG GAGATGGAAA TATCCTGGCT CTTGCAGTGG ATGCATCTCG GGCAAGATGT
ACAGTGGGAG AAATCACAGA TGCCCTGAAA AAGGTATTTG GTGAACATAA AGCGAATGAT
CGAATGGTGA GTGGAGCATA TCGCCAGGAA TTTGGAGAAA GTAAAGAGAT AACATCTGCT
ATCAAGAGGG TTCATAAATT CATGGAACGT GAAGGTCGCA GACCTCGTCT TCTTGTAGCA
AAAATGGGAC AAGATGGCCA TGACAGAGGA GCAAAAGTTA TTGCTACAGG ATTTGCTGAT
CTTGGTTTTG ATGTGGACAT AGGCCCTCTT TTCCAGACTC CTCGTGAAGT GGCCCAGCAG
GCTGTGGATG CGGATGTGCA TGCTGTGGGC ATAAGCACCC TCGCTGCTGG TCATAAAACC
CTAGTTCCTG AACTCATCAA AGAACTTAAC TCCCTTGGAC GGCCAGATAT TCTTGTCATG
TGTGGAGGGG TGATACCACC TCAGGATTAT GAATTTCTGT TTGAAGTTGG TGTTTCCAAT
GTATTTGGTC CTGGGACTCG AATTCCAAAG GCTGCCGTTC AGGTGCTTGA TGATATTGAG
AAGTGTTTGG AAAAGAAGCA GCAATCTGTA TAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
World journal of pediatrics : WJP13(4)381-386(2017 Aug)
Han LS,Huang Z,Han F,Wang Y,Gong ZW,Gu XF


book

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Human mutation37(8)745-54(2016 Aug)
Forny P,Schnellmann AS,Buerer C,Lutz S,Fowler B,Froese DS,Baumgartner MR


book

[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics33(2)135-9(2016 Apr)
Xie B,Luo J,Fan X,Chen R,Wang J,Zhang S,Li W,Chen S


book

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Cell164(4)805-17(2016 Feb)
Yang X,Coulombe-Huntington J,Kang S,Sheynkman GM,Hao T,Richardson A,Sun S,Yang F,Shen YA,Murray RR,Spirohn K,Begg BE,Duran-Frigola M,MacWilliams A,Pevzner SJ,Zhong Q,Trigg SA,Tam S,Ghamsari L,Sahni N,Yi S,Rodriguez MD,Balcha D,Tan G,Costanzo M,Andrews B,Boone C,Zhou XJ,Salehi-Ashtiani K,Charloteaux B,Chen AA,Calderwood MA,Aloy P,Roth FP,Hill DE,Iakoucheva LM,Xia Y,Vidal M


 
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