LOCUS AY973034 3652 bp mRNA linear HUM 24-JAN-2006
DEFINITION Homo sapiens Janus kinase 2 (JAK2) mRNA, complete cds.
ACCESSION AY973034
VERSION AY973034.1
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 3652)
AUTHORS Frohling,S., Lipka,D.B., Kayser,S., Scholl,C., Schlenk,R.F.,
Dohner,H., Gilliland,D.G., Levine,R.L. and Dohner,K.
TITLE Rare occurrence of the JAK2 V617F mutation in AML subtypes M5, M6,
and M7
JOURNAL Blood 107 (3), 1242-1243 (2006)
PUBMED 16434499
REFERENCE 2 (bases 1 to 3652)
AUTHORS Lipka,D.B., Kayser,S., Habdank,M., Frohling,S., Dohner,H. and
Dohner,K.
TITLE Mutation analysis of the hematopoiesis-associated gene JAK2 in
myeloid disorders
JOURNAL Unpublished
REFERENCE 3 (bases 1 to 3652)
AUTHORS Lipka,D.B., Kayser,S., Habdank,M., Frohling,S., Dohner,H. and
Dohner,K.
TITLE Direct Submission
JOURNAL Submitted (23-MAR-2005) Internal Medicine III, Univerity of Ulm,
Robert-Koch-Strasse, Ulm 89081, Germany
FEATURES Location/Qualifiers
source 1..3652
/db_xref="H-InvDB:HIT000333550"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/cell_line="human erythroleukemia cell-line (HEL)"
gene 1..3652
/gene="JAK2"
CDS 72..3470
/gene="JAK2"
/codon_start=1
/product="Janus kinase 2"
/protein_id="AAY22962.1"
/translation="MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLY
HSLGKSEADYLTFPSGEYVAEEICIAASKACGITPVYHNMFALMSETERIWYPPNHVF
HIDESTRHNVLYRIRFYFPRWYCSGSNRAYRHGISRGAEAPLLDDFVMSYLFAQWRHD
FVHGWIKVPVTHETQEECLGMAVLDMMRIAKENDQTPLAIYNSISYKTFLPKCIRAKI
QDYHILTRKRIRYRFRRFIQQFSQCKATARNLKLKYLINLETLQSAFYTEKFEVKEPG
SGPSGEEIFATIIITGNGGIQWSRGKHKESETLTEQDLQLYCDFPNIIDVSIKQANQE
GSNESRVVTIHKQDGKNLEIELSSLREALSFVSLIDGYYRLTADAHHYLCKEVAPPAV
LENIQSNCHGPISMDFAISKLKKAGNQTGLYVLRCSPKDFNKYFLTFAVERENVIEYK
HCLITKNENEEYNLSGTKKNFSSLKDLLNCYQMETVRSDNIIFQFTKCCPPKPKDKSN
LLVFRTNGVSDVPTSPTLQRPTHMNQMVFHKIRNEDLIFNESLGQGTFTKIFKGVRRE
VGDYGQLHETEVLLKVLDKAHRNYSESFFEAASMMSKLSHKHLVLNYGVCFCGDENIL
VQEFVKFGSLDTYLKKNKNCINILWKLEVAKQLAWAMHFLEENTLIHGNVCAKNILLI
REEDRKTGNPPFIKLSDPGISITVLPKDILQERIPWVPPECIENPKNLNLATDKWSFG
TTLWEICSGGDKPLSALDSQRKLQFYEDRHQLPAPKWAELANLINNCMDYEPDFRPSF
RAIIRDLNSLFTPDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLG
KGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYK
GVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTKRY
IHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESK
FSVASDVWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVFHLIELLKNNGRL
PRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQIRDNMAG"
variation 1920
/gene="JAK2"
/note="V617F"
/replace="g"
BASE COUNT 1225 a 645 c 762 g 1020 t
ORIGIN
1 tttctcttct gcagaaaaag aggctcttcc tcctcctccc gcgacggcaa atgttctgaa
61 aaagactctg catgggaatg gcctgcctta cgatgacaga aatggaggga acatccacct
121 cttctatata tcagaatggt gatatttctg gaaatgccaa ttctatgaag caaatagatc
181 cagttcttca ggtgtatctt taccattccc ttgggaaatc tgaggcagat tatctgacct
241 ttccatctgg ggagtatgtt gcagaagaaa tctgtattgc tgcttctaaa gcttgtggta
301 tcacacctgt gtatcataat atgtttgctt taatgagtga aacagaaagg atctggtatc
361 cacccaacca tgtcttccat atagatgagt caaccaggca taatgtactc tacagaataa
421 gattttactt tcctcgttgg tattgcagtg gcagcaacag agcctatcgg catggaatat
481 ctcgaggtgc tgaagctcct cttcttgatg actttgtcat gtcttacctc tttgctcagt
541 ggcggcatga ttttgtgcac ggatggataa aagtacctgt gactcatgaa acacaggaag
601 aatgtcttgg gatggcagtg ttagatatga tgagaatagc caaagaaaac gatcaaaccc
661 cactggccat ctataactct atcagctaca agacattctt accaaaatgt attcgagcaa
721 agatccaaga ctatcatatt ttgacaagga agcgaataag gtacagattt cgcagattta
781 ttcagcaatt cagccaatgc aaagccactg ccagaaactt gaaacttaag tatcttataa
841 atctggaaac tctgcagtct gccttctaca cagagaaatt tgaagtaaaa gaacctggaa
901 gtggtccttc aggtgaggag atttttgcaa ccattataat aactggaaac ggtggaattc
961 agtggtcaag agggaaacat aaagaaagtg agacactgac agaacaggat ttacagttat
1021 attgcgattt tcctaatatt attgatgtca gtattaagca agcaaaccaa gagggttcaa
1081 atgaaagccg agttgtaact atccataagc aagatggtaa aaatctggaa attgaactta
1141 gctcattaag ggaagctttg tctttcgtgt cattaattga tggatattat agattaactg
1201 cagatgcaca tcattacctc tgtaaagaag tagcacctcc agccgtgctt gaaaatatac
1261 aaagcaactg tcatggccca atttcgatgg attttgccat tagtaaactg aagaaagcag
1321 gtaatcagac tggactgtat gtacttcgat gcagtcctaa ggactttaat aaatattttt
1381 tgacttttgc tgtcgagcga gaaaatgtca ttgaatataa acactgtttg attacaaaaa
1441 atgagaatga agagtacaac ctcagtggga caaagaagaa cttcagcagt cttaaagatc
1501 ttttgaattg ttaccagatg gaaactgttc gctcagacaa tataattttc cagtttacta
1561 aatgctgtcc cccaaagcca aaagataaat caaaccttct agtcttcaga acgaatggtg
1621 tttctgatgt accaacctca ccaacattac agaggcctac tcatatgaac caaatggtgt
1681 ttcacaaaat cagaaatgaa gatttgatat ttaatgaaag ccttggccaa ggcactttta
1741 caaagatttt taaaggcgta cgaagagaag taggagacta cggtcaactg catgaaacag
1801 aagttctttt aaaagttctg gataaagcac acagaaacta ttcagagtct ttctttgaag
1861 cagcaagtat gatgagcaag ctttctcaca agcatttggt tttaaattat ggagtatgtt
1921 tctgtggaga cgagaatatt ctggttcagg agtttgtaaa atttggatca ctagatacat
1981 atctgaaaaa gaataaaaat tgtataaata tattatggaa acttgaagtt gctaaacagt
2041 tggcatgggc catgcatttt ctagaagaaa acacccttat tcatgggaat gtatgtgcca
2101 aaaatattct gcttatcaga gaagaagaca ggaagacagg aaatcctcct ttcatcaaac
2161 ttagtgatcc tggcattagt attacagttt tgccaaagga cattcttcag gagagaatac
2221 catgggtacc acctgaatgc attgaaaatc ctaaaaattt aaatttggca acagacaaat
2281 ggagttttgg taccactttg tgggaaatct gcagtggagg agataaacct ctaagtgctc
2341 tggattctca aagaaagcta caattttatg aagataggca tcagcttcct gcaccaaagt
2401 gggcagaatt agcaaacctt ataaataatt gtatggatta tgaaccagat ttcaggcctt
2461 ctttcagagc catcatacga gatcttaaca gtttgtttac tccagattat gaactattaa
2521 cagaaaatga catgttacca aatatgagga taggtgccct ggggttttct ggtgcctttg
2581 aagaccggga tcctacacag tttgaagaga gacatttgaa atttctacag caacttggca
2641 agggtaattt tgggagtgtg gagatgtgcc ggtatgaccc tctacaggac aacactgggg
2701 aggtggtcgc tgtaaaaaag cttcagcata gtactgaaga gcacctaaga gactttgaaa
2761 gggaaattga aatcctgaaa tccctacagc atgacaacat tgtaaagtac aagggagtgt
2821 gctacagtgc tggtcggcgt aatctaaaat taattatgga atatttacca tatggaagtt
2881 tacgagacta tcttcaaaaa cataaagaac ggatagatca cataaaactt ctgcagtaca
2941 catctcagat atgcaagggt atggagtatc ttggtacaaa aaggtatatc cacagggatc
3001 tggcaacgag aaatatattg gtggagaacg agaacagagt taaaattgga gattttgggt
3061 taaccaaagt cttgccacaa gacaaagaat actataaagt aaaagaacct ggtgaaagtc
3121 ccatattctg gtatgctcca gaatcactga cagagagcaa gttttctgtg gcctcagatg
3181 tttggagctt tggagtggtt ctgtatgaac ttttcacata cattgagaag agtaaaagtc
3241 caccagcgga atttatgcgt atgattggca atgacaaaca aggacagatg atcgtgttcc
3301 atttgataga acttttgaag aataatggaa gattaccaag accagatgga tgcccagatg
3361 agatctatat gatcatgaca gaatgctgga acaataatgt aaatcaacgc ccctccttta
3421 gggatctagc tcttcgagtg gatcaaataa gggataacat ggctggatga aagaaatgac
3481 cttcattctg agaccaaagt agatttacag aacaaagttt tatatttcac attgctgtgg
3541 actattatta catatatcat tattatataa atcatgatgc tagccagcaa agatgtgaaa
3601 atatctgctc aaaactttca aagtttagta agtttttctt catgaggcca cc
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