BTK (NM_000061) Human Mutant ORF Clone

Specifications

Product Data
Product Name	BTK (NM_000061) Human Mutant ORF Clone
Mutation Description	L518R
Affected Codon#	518
Affected NT#	1553
Nucleotide Mutation	BTK Mutant (L518R), Myc-DDK-tagged ORF clone of Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK) as transfection-ready DNA
Effect	Ammlobulinemi
Synonyms	AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1; XLA
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000061
ORF Size	1977 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC400945 representing NM_000061 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGGCCGCAGTGATTCTGGAGAGCATCTTTCTGAAGCGATCCCAACAGAAAAAGAAAACATCACCTCTAA ACTTCAAGAAGCGCCTGTTTCTCTTGACCGTGCACAAACTCTCCTACTATGAGTATGACTTTGAACGTGG GAGAAGAGGCAGTAAGAAGGGTTCAATAGATGTTGAGAAGATCACTTGTGTTGAAACAGTGGTTCCTGAA AAAAATCCTCCTCCAGAAAGACAGATTCCGAGAAGAGGTGAAGAGTCCAGTGAAATGGAGCAAATTTCAA TCATTGAAAGGTTCCCTTATCCCTTCCAGGTTGTATATGATGAAGGGCCTCTCTACGTCTTCTCCCCAAC TGAAGAACTAAGGAAGCGGTGGATTCACCAGCTCAAAAACGTAATCCGGTACAACAGTGATCTGGTTCAG AAATATCACCCTTGCTTCTGGATCGATGGGCAGTATCTCTGCTGCTCTCAGACAGCCAAAAATGCTATGG GCTGCCAAATTTTGGAGAACAGGAATGGAAGCTTAAAACCTGGGAGTTCTCACCGGAAGACAAAAAAGCC TCTTCCCCCAACGCCTGAGGAGGACCAGATCTTGAAAAAGCCACTACCGCCTGAGCCAGCAGCAGCACCA GTCTCCACAAGTGAGCTGAAAAAGGTTGTGGCCCTTTATGATTACATGCCAATGAATGCAAATGATCTAC AGCTGCGGAAGGGTGATGAATATTTTATCTTGGAGGAAAGCAACTTACCATGGTGGAGAGCACGAGATAA AAATGGGCAGGAAGGCTACATTCCTAGTAACTATGTCACTGAAGCAGAAGACTCCATAGAAATGTATGAG TGGTATTCCAAACACATGACTCGGAGTCAGGCTGAGCAACTGCTAAAGCAAGAGGGGAAAGAAGGAGGTT TCATTGTCAGAGACTCCAGCAAAGCTGGCAAATATACAGTGTCTGTGTTTGCTAAATCCACAGGGGACCC TCAAGGGGTGATACGTCATTATGTTGTGTGTTCCACACCTCAGAGCCAGTATTACCTGGCTGAGAAGCAC CTTTTCAGCACCATCCCTGAGCTCATTAACTACCATCAGCACAACTCTGCAGGACTCATATCCAGGCTCA AATATCCAGTGTCTCAACAAAACAAGAATGCACCTTCCACTGCAGGCCTGGGATACGGATCATGGGAAAT TGATCCAAAGGACCTGACCTTCTTGAAGGAGCTGGGGACTGGACAATTTGGGGTAGTGAAGTATGGGAAA TGGAGAGGCCAGTACGACGTGGCCATCAAGATGATCAAAGAAGGCTCCATGTCTGAAGATGAATTCATTG AAGAAGCCAAAGTCATGATGAATCTTTCCCATGAGAAGCTGGTGCAGTTGTATGGCGTCTGCACCAAGCA GCGCCCCATCTTCATCATCACTGAGTACATGGCCAATGGCTGCCTCCTGAACTACCTGAGGGAGATGCGC CACCGCTTCCAGACTCAGCAGCTGCTAGAGATGTGCAAGGATGTCTGTGAAGCCATGGAATACCTGGAGT CAAAGCAGTTCCGTCACCGAGACCTGGCAGCTCGAAACTGTTTGGTAAACGATCAAGGAGTTGTTAAAGT ATCTGATTTCGGCCTGTCCAGGTATGTCCTGGATGATGAATACACAAGCTCAGTAGGCTCCAAATTTCCA GTCCGGTGGTCCCCACCGGAAGTCCTGATGTATAGCAAGTTCAGCAGCAAATCTGACATTTGGGCTTTTG GGGTTTTGATGTGGGAAATTTACTCCCTGGGGAAGATGCCATATGAGAGATTTACTAACAGTGAGACTGC TGAACACATTGCCCAAGGCCTACGTCTCTACAGGCCTCATCTGGCTTCAGAGAAGGTATATACCATCATG TACAGTTGCTGGCATGAGAAAGCAGATGAGCGTCCCACTTTCAAAATTCTTCTGAGCAATATTCTAGATG TCATGGATGAAGAATCC AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC400945 representing NM_000061 Red=Cloning site Green=Tags(s) MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPE KNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQ KYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAP VSTSELKKVVALYDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYE WYSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKH LFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGK WRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMR HRFQTQQLLEMCKDVCEAMEYLESKQFRHRDLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFP VRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIM YSCWHEKADERPTFKILLSNILDVMDEES SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene
OTI Disclaimer	Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. 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_000052
RefSeq Size	1977 bp
RefSeq ORF	1980 bp
Locus ID	695
Domains	pkinase, SH2, TyrKc, SH3, BTK, PH, S_TKc
Protein Families	Druggable Genome, Protein Kinase
Protein Pathways	B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Primary immunodeficiency
MW	72.5 kDa
Gene Summary	The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

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