LOCUS KC120778 2531 bp mRNA linear HUM 20-JAN-2013
DEFINITION Homo sapiens beta 3 integrin G392C mutant (ITGB3) mRNA, complete
cds.
ACCESSION KC120778
VERSION KC120778.1
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 2531)
AUTHORS Castellino,F.J., Liang,Z., Davis,P.K., Balsara,R.D., Musunuru,H.,
Donahue,D.L., Smith,D.L., Sandoval-Cooper,M.J., Ploplis,V.A. and
Walsh,M.
TITLE Abnormal whole blood thrombi in humans with inherited platelet
receptor defects
JOURNAL PLoS ONE 7 (12), E52878 (2012)
PUBMED 23300803
REMARK Publication Status: Online-Only
REFERENCE 2 (bases 1 to 2531)
AUTHORS Liang,Z. and Castellino,F.J.
TITLE Direct Submission
JOURNAL Submitted (30-OCT-2012) W. M. Keck Center for Transgene Research,
University of Notre Dame, 230 Raclin-Carmichael Hall, Notre Dame,
IN 46556, USA
COMMENT ##Assembly-Data-START##
Sequencing Technology :: Sanger dideoxy sequencing
##Assembly-Data-END##
FEATURES Location/Qualifiers
source 1..2531
/db_xref="H-InvDB:HIT000722481"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/country="USA"
/note="GT-1 patient"
gene 1..2531
/gene="ITGB3"
CDS 21..2387
/gene="ITGB3"
/note="platelet glycoprotein IIIa, antigen CD61"
/codon_start=1
/product="beta 3 integrin G392C mutant"
/protein_id="AGC54784.1"
/translation="MRARPRPRPLWATVLALGALAGVGVGGPNICTTRGVSSCQQCLA
VSPMCAWCSDEALPLGSPRCDLKENLLKDNCAPESIEFPVSEARVLEDRPLSDKGSGD
SSQVTQVSPQRIALRLRPDDSKNFSIQVPQVEDYPVDIYYLMDLSYSMKDDLWSIQNL
GTKLATQMRKLTSNLRIGFGAFVDKPVSPYMYISPPEALENPCYDMKTTCLPMFGYKH
VLTLTDQVTRFNEEVKKQSVSRNRDAPEGGFDAIMQATVCDEKIGWRNDASHLLVFTT
DAKTHIALDGRLAGIVQPNDGQCHVGSDNHYSASTTMDYPSLGLMTEKLSQKNINLIF
AVTENVVNLYQNYSELIPGTTVGVLSMDSSNVLQLIVDAYGKIRSKVELEVRDLPEEL
SLSFNATCLNNEVIPGLKSCMGLKIGDTVSFSIEAKVRGCPQEKEKSFTIKPVGFKDS
LIVQVTFDCDCACQAQAEPNSHRCNNGNGTFECGVCRCGPGWLGSQCECSEEDYRPSQ
QDECSPREGQPVCSQRGECLCGQCVCHSSDFGKITGKYCECDDFSCVRYKGEMCSGHG
QCSCGDCLCDSDWTGYYCNCTTRTDTCMSSNGLLCSGRGKCECGSCVCIQPGSYGDTC
EKCPTCPDACTFKKECVECKKFDRGALHDENTCNRYCRDEIESVKELKDTGKDAVNCT
YKNEDDCVVRFQYYEDSSGKSILYVVEEPECPKGPDILVVLLSVMGAILLIGLAALLI
WKLLITIHDRKEFAKFEEERARAKWDTANNPLYKEATSTFTNITYRGT"
BASE COUNT 586 a 655 c 729 g 561 t
ORIGIN
1 cgccgcggga ggcggacgag atgcgagcgc ggccgcggcc ccggccgctc tgggcgactg
61 tgctggcgct gggggcgctg gcgggcgttg gcgtaggagg gcccaacatc tgtaccacgc
121 gaggtgtgag ctcctgccag cagtgcctgg ctgtgagccc catgtgtgcc tggtgctctg
181 atgaggccct gcctctgggc tcacctcgct gtgacctgaa ggagaatctg ctgaaggata
241 actgtgcccc agaatccatc gagttcccag tgagtgaggc ccgagtacta gaggacaggc
301 ccctcagcga caagggctct ggagacagct cccaggtcac tcaagtcagt ccccagagga
361 ttgcactccg gctccggcca gatgattcga agaatttctc catccaagtg ccgcaggtgg
421 aggattaccc tgtggacatc tactacttga tggacctgtc ttactccatg aaggatgatc
481 tgtggagcat ccagaacctg ggtaccaagc tggccaccca gatgcgaaag ctcaccagta
541 acctgcggat tggcttcggg gcatttgtgg acaagcctgt gtcaccatac atgtatatct
601 ccccaccaga ggccctcgaa aacccctgct atgatatgaa gaccacctgc ttgcccatgt
661 ttggctacaa acacgtgctg acgctaactg accaggtgac ccgcttcaat gaggaagtga
721 agaagcagag tgtgtcacgg aaccgagatg ccccagaggg tggctttgat gccatcatgc
781 aggctacagt ctgtgatgaa aagattggct ggaggaatga tgcatcccac ttgctggtgt
841 ttaccactga tgccaagact catatagcat tggacggaag gctggcaggc attgtccagc
901 ctaatgacgg gcagtgtcat gttggtagtg acaatcatta ctctgcctcc actaccatgg
961 attatccctc tttggggctg atgactgaga agctatccca gaaaaacatc aatttgatct
1021 ttgcagtgac tgaaaatgta gtcaatctct atcagaacta tagtgagctc atcccaggga
1081 ccacagttgg ggttctgtcc atggattcca gcaatgtcct ccagctcatt gttgatgctt
1141 atgggaaaat ccgttctaaa gtagagctgg aagtgcgtga cctccctgaa gagttgtctc
1201 tatccttcaa tgccacctgc ctcaacaatg aggtcatccc tggcctcaag tcttgtatgg
1261 gactcaagat tggagacacg gtgagcttca gcattgaggc caaggtgcga ggctgtcccc
1321 aggagaagga gaagtccttt accataaagc ccgtgggctt caaggacagc ctgatcgtcc
1381 aggtcacctt tgattgtgac tgtgcctgcc aggcccaagc tgaacctaat agccatcgct
1441 gcaacaatgg caatgggacc tttgagtgtg gggtatgccg ttgtgggcct ggctggctgg
1501 gatcccagtg tgagtgctca gaggaggact atcgcccttc ccagcaggac gaatgcagcc
1561 cccgggaggg tcagcccgtc tgcagccagc ggggcgagtg cctctgtggt caatgtgtct
1621 gccacagcag tgactttggc aagatcacgg gcaagtactg cgagtgtgac gacttctcct
1681 gtgtccgcta caagggggag atgtgctcag gccatggcca gtgcagctgt ggggactgcc
1741 tgtgtgactc cgactggacc ggctactact gcaactgtac cacgcgtact gacacctgca
1801 tgtccagcaa tgggctgctg tgcagcggcc gcggcaagtg tgaatgtggc agctgtgtct
1861 gtatccagcc gggctcctat ggggacacct gtgagaagtg ccccacctgc ccagatgcct
1921 gcacctttaa gaaagaatgt gtggagtgta agaagtttga ccggggagcc ctacatgacg
1981 aaaatacctg caaccgttac tgccgtgacg agattgagtc agtgaaagag cttaaggaca
2041 ctggcaagga tgcagtgaat tgtacctata agaatgagga tgactgtgtc gtcagattcc
2101 agtactatga agattctagt ggaaagtcca tcctgtatgt ggtagaagag ccagagtgtc
2161 ccaagggccc tgacatcctg gtggtcctgc tctcagtgat gggggccatt ctgctcattg
2221 gccttgccgc cctgctcatc tggaaactcc tcatcaccat ccacgaccga aaagaattcg
2281 ctaaatttga ggaagaacgc gccagagcaa aatgggacac agccaacaac ccactgtata
2341 aagaggccac gtctaccttc accaatatca cgtaccgggg cacttaatga taagcagtca
2401 tcctcagatc attatcagcc tgtgccacga ttgcaggagt ccctgccatc atgtttacag
2461 aggacagtat ttgtggggag ggatttgggg ctcagagtgg ggtaggttgg gagaatgtca
2521 gtatgtggaa g
//