LOCUS AF246221 1853 bp mRNA linear HUM 28-APR-2000
DEFINITION Homo sapiens transmembrane protein BRI mRNA, complete cds.
ACCESSION AF246221
VERSION AF246221.1
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 1853)
AUTHORS Vidal,R., Revesz,T., Rostagno,A., Kim,E., Holton,J.L., Bek,T.,
Bojsen-Moller,M., Braendgaard,H., Plant,G., Ghiso,J. and
Frangione,B.
TITLE A decamer duplication in the 3' region of the BRI gene originates
an amyloid peptide that is associated with dementia in a Danish
kindred
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (9), 4920-4925 (2000)
PUBMED 10781099
REFERENCE 2 (bases 1 to 1853)
AUTHORS Vidal,R.
TITLE Direct Submission
JOURNAL Submitted (15-MAR-2000) Pathology, NYUSM, 550 First Ave, TH 429,
New York, NY 10016, USA
FEATURES Location/Qualifiers
source 1..1853
/db_xref="H-InvDB:HIT000074932"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="13"
/map="13q14"
CDS 171..1004
/note="decamer duplication results in an amyloid protein
in patients with familial Danish dementia"
/codon_start=1
/product="transmembrane protein BRI"
/protein_id="AAF66130.1"
/translation="MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDV
VPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNE
PSADAPAALYQTIEENIKIFEEEEVEFISVPVPEFADSDPANIVHDFNKKLTAYLDLN
LDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFF
IYRLCHDKETYKLQRRETIKGIQKREASNCFAIRHFENKFAVETLICFNLFLNSQEKH
Y"
variation 956..975
/note="location of decamer duplication"
/replace="tttaatttgt"
BASE COUNT 556 a 375 c 349 g 573 t
ORIGIN
1 gcgagatccc taccgcagta gccgcctctg ccgccgcgga gcttcccgaa cctctcagcc
61 gcccggagcc gctcccggag cccggccgta gaggctgcaa tcgcagccgg gagcccgcag
121 cccgcgcccc gagcccgccg ccgcccttcg agggcgcccc aggccgcgcc atggtgaagg
181 tgacgttcaa ctccgctctg gcccagaagg aggccaagaa ggacgagccc aagagcggcg
241 aggaggcgct catcatcccc cccgacgccg tcgcggtgga ctgcaaggac ccagatgatg
301 tggtaccagt tggccaaaga agagcctggt gttggtgcat gtgctttgga ctagcattta
361 tgcttgcagg tgttattcta ggaggagcat acttgtacaa atattttgca cttcaaccag
421 atgacgtgta ctactgtgga ataaagtaca tcaaagatga tgtcatctta aatgagccct
481 ctgcagatgc cccagctgct ctctaccaga caattgaaga aaatattaaa atctttgaag
541 aagaagaagt tgaatttatc agtgtgcctg tcccagagtt tgcagatagt gatcctgcca
601 acattgttca tgactttaac aagaaactta cagcctattt agatcttaac ctggataagt
661 gctatgtgat ccctctgaac acttccattg ttatgccacc cagaaaccta ctggagttac
721 ttattaacat caaggctgga acctatttgc ctcagtccta tctgattcat gagcacatgg
781 ttattactga tcgcattgaa aacattgatc acctgggttt ctttatttat cgactgtgtc
841 atgacaagga aacttacaaa ctgcaacgca gagaaactat taaaggtatt cagaaacgtg
901 aagccagcaa ttgtttcgca attcggcatt ttgaaaacaa atttgccgtg gaaactttaa
961 tttgttttaa tttgttcttg aacagtcaag aaaaacatta ttgaggaaaa ttaatatcac
1021 agcataaccc caccctttac attttgtgca gtgattattt tttaaagtct tctttcatgt
1081 aagtagcaaa cagggcttta ctatcttttc atctcattaa ttcaattaaa accattacct
1141 taaaattttt ttctttcgaa gtgtggtgtc ttttatattt gaattagtaa ctgtatgaag
1201 tcatagataa tagtacatgt caccttaggt agtaggaaga attacaattt ctttaaatca
1261 tttatctgga tttttatgtt ttattagcat tttcaagaag acggattatc tagagaataa
1321 tcatatatat gcatacgtaa aaatggacca cagtgactta tttgtagttg ttagttgccc
1381 tgctacctag tttgttagtg catttgagca cacattttaa ttttcctcta attaaaatgt
1441 gcagtatttt cagtgtcaaa tatatttaac tatttagaga atgatttcca cctttatgtt
1501 ttaatatcct aggcatctgc tgtaataata ttttagaaaa tgtttggaat ttaagaaata
1561 acttgtgtta ctaatttgta taacccatat ctgtgcaatg gaatataaat atcacaaagt
1621 tgtttaacta gactgcgtgt tgtttttccc gtataataaa accaaagaat agtttggttc
1681 ttcaaatctt aagagaatcc acataaaaga agaaactatt ttttaaaaat tcacttctat
1741 atatacaatg agtaaaatca cagatttttt ctttaaataa aaataagtca ttttaataac
1801 taaaccagat tctttgtgga tactattaaa gtaacattta agcctcaacc ttg
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