LOCUS GU128154 4863 bp mRNA linear HUM 17-NOV-2009
DEFINITION Homo sapiens L1196M mutant anaplastic lymphoma receptor tyrosine
kinase (ALK) mRNA, complete cds.
ACCESSION GU128154
VERSION GU128154.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4863)
AUTHORS Wood,A., Laudenslager,M., Haglund,L., Courtright,J., Plegaria,J.,
Diskin,S., Attiyeh,E.F., Cole,K., Pawel,B., Zhao,H., Zhang,J.,
McGrady,P., London,W., McTigue,M.A., Marrone,T.J.,
Christensen,J.G., Maris,J.M. and Mosse,Y.P.
TITLE Targeted ALK inhibition therapy for neuroblastoma
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 4863)
AUTHORS Wood,A., Laudenslager,M., Haglund,L., Courtright,J., Plegaria,J.,
Diskin,S., Attiyeh,E.F., Cole,K., Pawel,B., Zhao,H., Zhang,J.,
McGrady,P., London,W., McTigue,M.A., Marrone,T.J.,
Christensen,J.G., Maris,J.M. and Mosse,Y.P.
TITLE Direct Submission
JOURNAL Submitted (22-OCT-2009) Oncology, The Children's Hospital of
Philadelphia, 3501 Civic Center Boulevard CTRB 3300, Philadelphia,
PA 19104, USA
FEATURES Location/Qualifiers
source 1..4863
/db_xref="H-InvDB:HIT000648483"
/organism="Homo sapiens"
/mol_type="mRNA"
/isolate="L1196M"
/db_xref="taxon:9606"
/tissue_type="neuroblastoma"
/collection_date="2008"
gene 1..4863
/gene="ALK"
CDS 1..4863
/gene="ALK"
/codon_start=1
/product="mutant anaplastic lymphoma receptor tyrosine
kinase"
/protein_id="ACY79562.1"
/translation="MGAIGLLWLLPLLLSTAAVGSGMGTGQRAGSPAAGPPLQPREPL
SYSRLQRKSLAVDFVVPSLFRVYARDLLLPPSSSELKAGRPEARGSLALDCAPLLRLL
GPAPGVSWTAGSPAPAEARTLSRVLKGGSVRKLRRAKQLVLELGEEAILEGCVGPPGE
AAVGLLQFNLSELFSWWIRQGEGRLRIRLMPEKKASEVGREGRLSAAIRASQPRLLFQ
IFGTGHSSLESPTNMPSPSPDYFTWNLTWIMKDSFPFLSHRSRYGLECSFDFPCELEY
SPPLHDLRNQSWSWRRIPSEEASQMDLLDGPGAERSKEMPRGSFLLLNTSADSKHTIL
SPWMRSSSEHCTLAVSVHRHLQPSGRYIAQLLPHNEAAREILLMPTPGKHGWTVLQGR
IGRPDNPFRVALEYISSGNRSLSAVDFFALKNCSEGTSPGSKMALQSSFTCWNGTVLQ
LGQACDFHQDCAQGEDESQMCRKLPVGFYCNFEDGFCGWTQGTLSPHTPQWQVRTLKD
ARFQDHQDHALLLSTTDVPASESATVTSATFPAPIKSSPCELRMSWLIRGVLRGNVSL
VLVENKTGKEQGRMVWHVAAYEGLSLWQWMVLPLLDVSDRFWLQMVAWWGQGSRAIVA
FDNISISLDCYLTISGEDKILQNTAPKSRNLFERNPNKELKPGENSPRQTPIFDPTVH
WLFTTCGASGPHGPTQAQCNNAYQNSNLSVEVGSEGPLKGIQIWKVPATDTYSISGYG
AAGGKGGKNTMMRSHGVSVLGIFNLEKDDMLYILVGQQGEDACPSTNQLIQKVCIGEN
NVIEEEIRVNRSVHEWAGGGGGGGGATYVFKMKDGVPVPLIIAAGGGGRAYGAKTDTF
HPERLENNSSVLGLNGNSGAAGGGGGWNDNTSLLWAGKSLQEGATGGHSCPQAMKKWG
WETRGGFGGGGGGCSSGGGGGGYIGGNAASNNDPEMDGEDGVSFISPLGILYTPALKV
MEGHGEVNIKHYLNCSHCEVDECHMDPESHKVICFCDHGTVLAEDGVSCIVSPTPEPH
LPLSLILSVVTSALVAALVLAFSGIMIVYRRKHQELQAMQMELQSPEYKLSKLRTSTI
MTDYNPNYCFAGKTSSISDLKEVPRKNITLIRGLGHGAFGEVYEGQVSGMPNDPSPLQ
VAVKTLPEVCSEQDELDFLMEALIISKFNHQNIVRCIGVSLQSLPRFILMELMAGGDL
KSFLRETRPRPSQPSSLAMLDLLHVARDIACGCQYLEENHFIHRDIAARNCLLTCPGP
GRVAKIGDFGMARDIYRASYYRKGGCAMLPVKWMPPEAFMEGIFTSKTDTWSFGVLLW
EIFSLGYMPYPSKSNQEVLEFVTSGGRMDPPKNCPGPVYRIMTQCWQHQPEDRPNFAI
ILERIEYCTQDPDVINTALPIEYGPLVEEEEKVPVRPKDPEGVPPLLVSQQAKREEER
SPAAPPPLPTTSSGKAAKKPTAAEISVRVPRGPAVEGGHVNMAFSQSNPPSELHKVHG
SRNKPTSLWNPTYGSWFTEKPTKKNNPIAKKEPHDRGNLGLEGSCTVPPNVATGRLPG
ASLLLEPSSLTANMKEVPLFRLRHFPCGNVNYGYQQQGLPLEAATAPGAGHYEDTILK
SKNSMNQPGP"
variation 3586
/gene="ALK"
/note="results in Leu to Met substitution"
/replace="c"
BASE COUNT 1083 a 1393 c 1429 g 958 t
ORIGIN
1 atgggagcca tcgggctcct gtggctcctg ccgctgctgc tttccacggc agctgtgggc
61 tccgggatgg ggaccggcca gcgcgcgggc tccccagctg cggggccgcc gctgcagccc
121 cgggagccac tcagctactc gcgcctgcag aggaagagtc tggcagttga cttcgtggtg
181 ccctcgctct tccgtgtcta cgcccgggac ctactgctgc caccatcctc ctcggagctg
241 aaggctggca ggcccgaggc ccgcggctcg ctagctctgg actgcgcccc gctgctcagg
301 ttgctggggc cggcgccggg ggtctcctgg accgccggtt caccagcccc ggcagaggcc
361 cggacgctgt ccagggtgct gaagggcggc tccgtgcgca agctccggcg tgccaagcag
421 ttggtgctgg agctgggcga ggaggcgatc ttggagggtt gcgtcgggcc ccccggggag
481 gcggctgtgg ggctgctcca gttcaatctc agcgagctgt tcagttggtg gattcgccaa
541 ggcgaagggc gactgaggat ccgcctgatg cccgagaaga aggcgtcgga agtgggcaga
601 gagggaaggc tgtccgcggc aattcgcgcc tcccagcccc gccttctctt ccagatcttc
661 gggactggtc atagctcctt ggaatcacca acaaacatgc cttctccttc tcctgattat
721 tttacatgga atctcacctg gataatgaaa gactccttcc ctttcctgtc tcatcgcagc
781 cgatatggtc tggagtgcag ctttgacttc ccctgtgagc tggagtattc ccctccactg
841 catgacctca ggaaccagag ctggtcctgg cgccgcatcc cctccgagga ggcctcccag
901 atggacttgc tggatgggcc tggggcagag cgttctaagg agatgcccag aggctccttt
961 ctccttctca acacctcagc tgactccaag cacaccatcc tgagtccgtg gatgaggagc
1021 agcagtgagc actgcacact ggccgtctcg gtgcacaggc acctgcagcc ctctggaagg
1081 tacattgccc agctgctgcc ccacaacgag gctgcaagag agatcctcct gatgcccact
1141 ccagggaagc atggttggac agtgctccag ggaagaatcg ggcgtccaga caacccattt
1201 cgagtggccc tggaatacat ctccagtgga aaccgcagct tgtctgcagt ggacttcttt
1261 gccctgaaga actgcagtga aggaacatcc ccaggctcca agatggccct gcagagctcc
1321 ttcacttgtt ggaatgggac agtcctccag cttgggcagg cctgtgactt ccaccaggac
1381 tgtgcccagg gagaagatga gagccagatg tgccggaaac tgcctgtggg tttttactgc
1441 aactttgaag atggcttctg tggctggacc caaggcacac tgtcacccca cactcctcaa
1501 tggcaggtca ggaccctaaa ggatgcccgg ttccaggacc accaagacca tgctctattg
1561 ctcagtacca ctgatgtccc cgcttctgaa agtgctacag tgaccagtgc tacgtttcct
1621 gcaccgatca agagctctcc atgtgagctc cgaatgtcct ggctcattcg tggagtcttg
1681 aggggaaacg tgtccttggt gctagtggag aacaaaaccg ggaaggagca aggcaggatg
1741 gtctggcatg tcgccgccta tgaaggcttg agcctgtggc agtggatggt gttgcctctc
1801 ctcgatgtgt ctgacaggtt ctggctgcag atggtcgcat ggtggggaca aggatccaga
1861 gccatcgtgg cttttgacaa tatctccatc agcctggact gctacctcac cattagcgga
1921 gaggacaaga tcctgcagaa tacagcaccc aaatcaagaa acctgtttga gagaaaccca
1981 aacaaggagc tgaaacccgg ggaaaattca ccaagacaga cccccatctt tgaccctaca
2041 gttcattggc tgttcaccac atgtggggcc agcgggcccc atggccccac ccaggcacag
2101 tgcaacaacg cctaccagaa ctccaacctg agcgtggagg tggggagcga gggccccctg
2161 aaaggcatcc agatctggaa ggtgccagcc accgacacct acagcatctc gggctacgga
2221 gctgctggcg ggaaaggcgg gaagaacacc atgatgcggt cccacggcgt gtctgtgctg
2281 ggcatcttca acctggagaa ggatgacatg ctgtacatcc tggttgggca gcagggagag
2341 gacgcctgcc ccagtacaaa ccagttaatc cagaaagtct gcattggaga gaacaatgtg
2401 atagaagaag aaatccgtgt gaacagaagc gtgcatgagt gggcaggagg cggaggagga
2461 gggggtggag ccacctacgt atttaagatg aaggatggag tgccggtgcc cctgatcatt
2521 gcagccggag gtggtggcag ggcctacggg gccaagacag acacgttcca cccagagaga
2581 ctggagaata actcctcggt tctagggcta aacggcaatt ccggagccgc aggtggtgga
2641 ggtggctgga atgataacac ttccttgctc tgggccggaa aatctttgca ggagggtgcc
2701 accggaggac attcctgccc ccaggccatg aagaagtggg ggtgggagac aagagggggt
2761 ttcggagggg gtggaggggg gtgctcctca ggtggaggag gcggaggata tataggcggc
2821 aatgcagcct caaacaatga ccccgaaatg gatggggaag atggggtttc cttcatcagt
2881 ccactgggca tcctgtacac cccagcttta aaagtgatgg aaggccacgg ggaagtgaat
2941 attaagcatt atctaaactg cagtcactgt gaggtagacg aatgtcacat ggaccctgaa
3001 agccacaagg tcatctgctt ctgtgaccac gggacggtgc tggctgagga tggcgtctcc
3061 tgcattgtgt cacccacccc ggagccacac ctgccactct cgctgatcct ctctgtggtg
3121 acctctgccc tcgtggccgc cctggtcctg gctttctccg gcatcatgat tgtgtaccgc
3181 cggaagcacc aggagctgca agccatgcag atggagctgc agagccctga gtacaagctg
3241 agcaagctcc gcacctcgac catcatgacc gactacaacc ccaactactg ctttgctggc
3301 aagacctcct ccatcagtga cctgaaggag gtgccgcgga aaaacatcac cctcattcgg
3361 ggtctgggcc atggcgcctt tggggaggtg tatgaaggcc aggtgtccgg aatgcccaac
3421 gacccaagcc ccctgcaagt ggctgtgaag acgctgcctg aagtgtgctc tgaacaggac
3481 gaactggatt tcctcatgga agccctgatc atcagcaaat tcaaccacca gaacattgtt
3541 cgctgcattg gggtgagcct gcaatccctg ccccggttca tcctgatgga gctcatggcg
3601 gggggagacc tcaagtcctt cctccgagag acccgccctc gcccgagcca gccctcctcc
3661 ctggccatgc tggaccttct gcacgtggct cgggacattg cctgtggctg tcagtatttg
3721 gaggaaaacc acttcatcca ccgagacatt gctgccagaa actgcctctt gacctgtcca
3781 ggccctggaa gagtggccaa gattggagac ttcgggatgg cccgagacat ctacagggcg
3841 agctactata gaaagggagg ctgtgccatg ctgccagtta agtggatgcc cccagaggcc
3901 ttcatggaag gaatattcac ttctaaaaca gacacatggt cctttggagt gctgctatgg
3961 gaaatctttt ctcttggata tatgccatac cccagcaaaa gcaaccagga agttctggag
4021 tttgtcacca gtggaggccg gatggaccca cccaagaact gccctgggcc tgtataccgg
4081 ataatgactc agtgctggca acatcagcct gaagacaggc ccaactttgc catcattttg
4141 gagaggattg aatactgcac ccaggacccg gatgtaatca acaccgcttt gccgatagaa
4201 tatggtccac ttgtggaaga ggaagagaaa gtgcctgtga ggcccaagga ccctgagggg
4261 gttcctcctc tcctggtctc tcaacaggca aaacgggagg aggagcgcag cccagctgcc
4321 ccaccacctc tgcctaccac ctcctctggc aaggctgcaa agaaacccac agctgcagag
4381 atctctgttc gagtccctag agggccggcc gtggaagggg gacacgtgaa tatggcattc
4441 tctcagtcca accctccttc ggagttgcac aaggtccacg gatccagaaa caagcccacc
4501 agcttgtgga acccaacgta cggctcctgg tttacagaga aacccaccaa aaagaataat
4561 cctatagcaa agaaggagcc acacgacagg ggtaacctgg ggctggaggg aagctgtact
4621 gtcccaccta acgttgcaac tgggagactt ccgggggcct cactgctcct agagccctct
4681 tcgctgactg ccaatatgaa ggaggtacct ctgttcaggc tacgtcactt cccttgtggg
4741 aatgtcaatt acggctacca gcaacagggc ttgcccttag aagccgctac tgcccctgga
4801 gctggtcatt acgaggatac cattctgaaa agcaagaata gcatgaacca gcctgggccc
4861 tga
//