Tuberin (TSC2) (NM_000548) Human Mutant ORF Clone

Specifications

Product Data
Product Name	Tuberin (TSC2) (NM_000548) Human Mutant ORF Clone
Mutation Description	Q1148X
Affected Codon#	1148
Affected NT#	3442
Nucleotide Mutation	TSC2 Mutant (Q1148X), Myc-DDK-tagged ORF clone of Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1 as transfection-ready DNA
Effect	Tuberous slerosis
Synonyms	LAM; PPP1R160; TSC4
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000548
ORF Size	3441 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC402434 representing NM_000548 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACAC CGAGGCCAAATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGA ACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACC AAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGC CGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCGTTTGGG GGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTG GAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTG TCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAA TAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCTGTGCGTCCGGACCGCG TCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTG AGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTG GAAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATG GAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCT GGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGCCAT GGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGG AAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGA CCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCA GAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGAG TCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGA ACCTGCAGGCGCTGATGGAGAGATTCTTCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGA CGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGAGGAGCTGATTAACTCAGTGGTCATC TCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGTGG ACCTGGCAGAGGGCTGCCACACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGATGGCCCG CTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTG AAGACAGCCGTCCTGGGGCTTCTGGTCATCCTTCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCA CGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGC GAGCAGCATCCGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGC CTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGGAGCCAGAGAGAG GCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC CGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGAG TCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCT TTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAAGACACT GGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTG ACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGCGCGAGATGGTCTACTGCCTGGAGC AGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGA CATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCC GTCCCACTGCTGGAGTTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGC AGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTTTAATCAGTACATCGTGTG TCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCT TTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCA GGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTT GAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATC AGTGTGTCTGAACATGTGGTCCGCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAG ATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCT GGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCTCCTGTGGGCGAGTTC CTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGG GAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGCTCCAG CCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTG TCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACG TGCCGGCCTCC AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC402434 representing NM_000548 Red=Cloning site Green=Tags(s) MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKT KKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERL EVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTA SSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLM EDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYR KELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPE SSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVI SQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDV KTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLG LPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQE SDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVL TALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMA VPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVP FITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSI SVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEF LLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQV SRGARDRVRSMSGGHGLRVGALDVPAS SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-XhoI      Cloning Scheme for this gene
OTI Disclaimer	The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation	This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Reference Data
RefSeq	NP_000539
RefSeq Size	3441 bp
RefSeq ORF	5424 bp
Locus ID	7249
Domains	Rap_GAP, Tuberin
Protein Families	Druggable Genome
Protein Pathways	Insulin signaling pathway, mTOR signaling pathway, p53 signaling pathway
MW	126.2 kDa
Gene Summary	Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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