MYO3A (NM_017433) Human Mutant ORF Clone

Specifications

Product Data
Product Name	MYO3A (NM_017433) Human Mutant ORF Clone
Mutation Description	Y1042X
Affected Codon#	1042
Affected NT#	3126
Nucleotide Mutation	MYO3A Mutant (Y1042X), Myc-DDK-tagged ORF clone of Homo sapiens myosin IIIA (MYO3A) as transfection-ready DNA
Effect	Non-syndromic hearing loss
Synonyms	DFNB30
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_017433
ORF Size	3123 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC403208 representing NM_017433 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGTTTCCATTAATTGGAAAAACAATCATCTTTGATAACTTTCCTGATCCTTCTGATACATGGGAAATCA CTGAGACAATTGGCAAAGGAACTTATGGGAAAGTTTTTAAAGTATTGAATAAGAAAAATGGCCAAAAAGC AGCAGTCAAAATTCTTGATCCAATTCACGATATTGACGAAGAGATTGAAGCAGAATATAACATCTTAAAA GCACTTTCTGACCACCCTAATGTGGTCAGATTCTATGGGATATACTTTAAGAAGGATAAAGTAAATGGAG ACAAGCTGTGGTTGGTTCTTGAGCTCTGCAGTGGAGGATCAGTGACTGACCTTGTGAAAGGATTTCTGAA GAGGGGTGAAAGAATGAGTGAGCCTCTAATTGCCTATATTTTACATGAAGCACTAATGGGACTTCAACAT TTGCATAACAACAAAACTATCCACAGAGATGTGAAAGGCAATAACATTCTATTGACCACGGAAGGTGGAG TGAAACTAGTAGATTTTGGTGTGTCTGCACAGCTCACCAGTACCCGGCACCGTCGGAACACATCCGTAGG AACACCGTTTTGGATGGCTCCTGAGGTGATTGCATGTGAACAGCAATTGGATACCACTTATGACGCCAGA TGTGACACTTGGTCCCTGGGTATCACGGCCATTGAGCTGGGTGATGGAGATCCTCCACTAGCTGACCTTC ATCCCATGAGAGCACTCTTCAAAATACCAAGGAATCCACCCCCAAAACTAAGGCAGCCTGAGCTATGGTC AGCAGAATTCAATGACTTCATAAGCAAGTGCTTGACTAAAGATTATGAAAAGCGTCCAACAGTGTCAGAA CTTTTACAGCATAAATTCATTACTCAAATTGAGGGCAAAGATGTGATGCTACAAAAACAACTAACGGAAT TCATTGGCATCCATCAATGCATGGGAGGCACAGAAAAGGCCAGACGTGAACGTATTCACACGAAGAAAGG GAACTTCAACCGACCTCTAATATCCAATCTGAAGGATGTAGATGATTTAGCAACCCTAGAAATTTTGGAT GAGAATACAGTCTCAGAGCAACTTGAGAAGTGTTATTCCAGAGATCAGATCTACGTCTATGTGGGAGACA TACTCATTGCTCTTAACCCTTTTCAGAGTCTGGGTCTTTACTCCACAAAGCATTCCAAACTATATATTGG ATCAAAGAGAACTGCCAGTCCTCCTCACATTTTTGCAATGGCTGACTTAGGATATCAATCTATGATAACA TATAATTCAGATCAGTGCATTGTTATTTCTGGAGAAAGTGGTGCTGGAAAGACTGAAAATGCTCATCTTT TAGTTCAGCAGCTGACAGTGCTTGGAAAGGCTAATAACAGAACCTTGCAAGAGAAGATTTTACAAGTGAA CAATTTGGTAGAAGCCTTTGGCAATGCCTGCACTATTATAAATGACAATTCTAGCAGATTTGGAAAATAC TTAGAAATGAAATTCACCTCTTCTGGAGCGGTAGTGGGAGCACAGATTTCTGAATATCTCCTGGAAAAAT CCCGAGTTATCCACCAAGCTATTGGAGAAAAAAATTTTCATATTTTTTACTACATTTATGCTGGTTTGGC TGAAAAGAAGAAACTAGCCCATTACAAACTGCCTGAAAATAAGCCTCCCAGGTACCTACAAAATGACCAC CTCAGAACAGTACAAGACATCATGAATAATAGTTTCTATAAATCCCAGTATGAATTAATTGAGCAATGTT TCAAAGTCATAGGTTTTACAATGGAGCAACTTGGTAGTATATACAGCATACTCGCTGCAATCTTGAATGT TGGCAACATTGAATTTTCTTCTGTGGCAACTGAACACCAGATTGACAAGAGCCACATTTCTAATCATACA GCCCTGGAGAACTGTGCTTCTTTGCTTTGCATTCGGGCAGATGAGCTACAAGAAGCTCTCACCTCCCACT GTGTGGTCACTAGAGGAGAAACAATTATACGACCCAATACTGTAGAAAAAGCTACCGATGTCAGGGATGC CATGGCTAAAACTTTATATGGACGTCTCTTTAGTTGGATAGTCAATTGCATTAACAGTTTGTTGAAGCAT GACTCATCACCAAGTGGGAATGGTGATGAGCTGAGCATTGGCATTCTTGATATATTTGGCTTTGAAAATT TCAAAAAAAATTCCTTCGAGCAGCTGTGCATTAACATTGCAAATGAACAAATTCAGTATTATTATAATCA ACATGTGTTTGCATGGGAACAGAATGAATACCTAAATGAAGATGTGGATGCTAGAGTTATTGAATATGAG GATAACTGGCCCCTCTTAGATATGTTTCTGCAAAAGCCAATGGGTTTACTTTCCCTACTTGATGAAGAAA GTAGATTTCCCAAGGCCACTGACCAGACTCTTGTAGAAAAATTTGAAGGTAACCTGAAATCACAATACTT CTGGAGACCCAAAAGAATGGAACTTAGTTTTGGAATTCACCATTATGCAGGAAAGGTCCTCTATAATGCA AGTGGATTCTTAGCCAAAAACAGAGACACTCTTCCTACTGACATTGTGCTACTTTTGAGGTCATCCGACA ACAGTGTAATTAGGCAACTAGTCAACCACCCTCTGACCAAAACAGGTAATCTGCCACATTCTAAAACTAA AAATGTTATAAACTATCAAATGAGGACTTCAGAAAAATTAATCAACCTGGCAAAGGGCGACACTGGAGAA GCCACACGTCATGCCAGAGAGACAACCAACATGAAAACACAAACGGTTGCATCATATTTTAGATATTCCC TGATGGATTTGTTGTCTAAAATGGTGGTGGGCCAACCTCATTTTGTCCGTTGCATCAAACCAAATAGTGA GCGTCAGGCAAGAAAATATGACAAAGAGAAAGTTCTGCTACAGCTTCGGTACACAGGAATTCTGGAAACA GCAAGAATTCGAAGACTAGGATTCTCCCATCGGATACTTTTTGCTAACTTTATAAAGCGGTACTACCTTC TCTGCTACAAGTCGAGCGAGGAGCCCCGCATGAGCCCTGACACCTGTGCCACCATTTTGGAAAAAGCTGG TCTCGATAACTGGGCTCTTGGAAAAACAAAAGTGTTCCTTAAG AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC403208 representing NM_017433 Red=Cloning site Green=Tags(s) MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDEEIEAEYNILK ALSDHPNVVRFYGIYFKKDKVNGDKLWLVLELCSGGSVTDLVKGFLKRGERMSEPLIAYILHEALMGLQH LHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRHRRNTSVGTPFWMAPEVIACEQQLDTTYDAR CDTWSLGITAIELGDGDPPLADLHPMRALFKIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSE LLQHKFITQIEGKDVMLQKQLTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILD ENTVSEQLEKCYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMIT YNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTIINDNSSRFGKY LEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKKKLAHYKLPENKPPRYLQNDH LRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSILAAILNVGNIEFSSVATEHQIDKSHISNHT ALENCASLLCIRADELQEALTSHCVVTRGETIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKH DSSPSGNGDELSIGILDIFGFENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYE DNWPLLDMFLQKPMGLLSLLDEESRFPKATDQTLVEKFEGNLKSQYFWRPKRMELSFGIHHYAGKVLYNA SGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKLINLAKGDTGE ATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQARKYDKEKVLLQLRYTGILET ARIRRLGFSHRILFANFIKRYYLLCYKSSEEPRMSPDTCATILEKAGLDNWALGKTKVFLK 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_059129
RefSeq Size	3123 bp
RefSeq ORF	4851 bp
Locus ID	53904
Protein Families	Druggable Genome, Protein Kinase
MW	114.5 kDa
Gene Summary	The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]

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