LOCUS       AF075575     6911 bp    mRNA            PRI       23-SEP-1998
DEFINITION  Homo sapiens dysferlin mRNA, complete cds.
ACCESSION   AF075575
NID         g3600027
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
            Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6911)
  AUTHORS   Liu,J., Aoki,M., Illa,I., Wu,C., Fardeau,M., Angelini,C.,
            Serrano,C., Urtizberea,J.A., Hentati,F., Hamida,M.B., Bohlega,S.,
            Culper,E.J., Amato,A.A., Bossie,K., Oeltjen,J., Bejaoui,K.,
            McKenna-Yasek,D., Hosler,B.A., Schurr,E., Arahata,K., de Jong,P.J.
            and Brown,R.H. Jr.
  TITLE     Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi
            myopathy and limb girdle muscular dystrophy
  JOURNAL   Nature Genet. 20 (1), 31-36 (1998)
  MEDLINE   98400252
REFERENCE   2  (bases 1 to 6911)
  AUTHORS   Liu,J., Aoki,M. and Brown,R.H. Jr.
  TITLE     Direct Submission
  JOURNAL   Submitted (30-JUN-1998) Day Research Laboratory, Massachusetts
            General Hospital, Fruit Street, Boston, MA 02114, USA
FEATURES             Location/Qualifiers
     source          1..6911
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13"
                     /tissue_type="muscle"
     CDS             374..6616
                     /note="mutated in Miyoshi myopathy and limb girdle
                     muscular dystrophy"
                     /codon_start=1
                     /product="dysferlin"
                     /db_xref="PID:g3600028"
                     /translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
                     VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
                     APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDT
                     EDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQ
                     DFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGE
                     LFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGAR
                     GYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLP
                     QMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
                     MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDL
                     DDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVE
                     HSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKF
                     DMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIA
                     DRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYL
                     YQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWML
                     QGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKL
                     WFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLP
                     KDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNY
                     TDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPA
                     EKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDA
                     FRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIF
                     DYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLI
                     FYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTR
                     GSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYM
                     VPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNP
                     NFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAE
                     SPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSY
                     LEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIY
                     PLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKK
                     SVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLEN
                     RLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDK
                     EYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQ
                     MWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKG
                     WMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTES
                     KIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVS
                     LFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLE
                     DPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMK
                     LVKPFS"
BASE COUNT     1563 a   2011 c   1981 g   1356 t
ORIGIN      
        1 tcgaccgccc agccaggtgc aaaatgccgt gtcattggga gactccgcag ccggagcatt
       61 agattacagc tcgacggagc tcgggaaggg cggcgggggt ggaagatgag cagaagcccc
      121 tgttctcgga acgccggctg acaagcgggg tgagcgcagg cggggcgggg acccagccta
      181 gcccactgga gcagccgggg gtggcccgtt cccctttaag agcaactgct ctaagccagg
      241 agccagagat tcgagccggc ctcgcccagc cagccctctc cagcgagggg acccacaagc
      301 ggcgcctcgg ccctcccgac ctttccgagc cctctttgcg ccctgggcgc acggggccct
      361 acacgcgcca agcatgctga gggtcttcat cctctatgcc gagaacgtcc acacacccga
      421 caccgacatc agcgatgcct actgctccgc ggtgtttgca ggggtgaaga agagaaccaa
      481 agtcatcaag aacagcgtga accctgtatg gaatgaggga tttgaatggg acctcaaggg
      541 catccccctg gaccagggct ctgagcttca tgtggtggtc aaagaccatg agacgatggg
      601 gaggaacagg ttcctggggg aagccaaggt cccactccga gaggtcctcg ccacccctag
      661 tctgtccgcc agcttcaatg cccccctgct ggacaccaag aagcagccca caggggcctc
      721 gctggtcctg caggtgtcct acacaccgct gcctggagct gtgcccctgt tcccgccccc
      781 tactcctctg gagccctccc cgactctgcc tgacctggat gtagtggcag acacaggagg
      841 agaggaagac acagaggacc agggactcac tggagatgag gcggagccat tcctggatca
      901 aagcggaggc ccgggggctc ccaccacccc aaggaaacta ccttcacgtc ctccgcccca
      961 ctaccccggg atcaaaagaa agcgaagtgc gcctacatct agaaagctgc tgtcagacaa
     1021 accgcaggat ttccagatca gggtccaggt gatcgagggg cgccagctgc cgggggtgaa
     1081 catcaagcct gtggtcaagg ttaccgctgc agggcagacc aagcggacgc ggatccacaa
     1141 gggaaacagc ccactcttca atgagactct tttcttcaac ttgtttgact ctcctgggga
     1201 gctgtttgat gagcccatct ttatcacggt ggtagactct cgttctctca ggacagatgc
     1261 tctcctcggg gagttccgga tggacgtggg caccatttac agagagcccc ggcacgccta
     1321 tctcaggaag tggctgctgc tctcagaccc tgatgacttc tctgctgggg ccagaggcta
     1381 cctgaaaaca agcctttgtg tgctggggcc tggggacgaa gcgcctctgg agagaaaaga
     1441 cccctctgaa gacaaggagg acattgaaag caacctgctc cggcccacag gcgtagccct
     1501 gcgaggagcc cacttctgcc tgaaggtctt ccgggccgag gacttgccgc agatggacga
     1561 tgccgtgatg gacaacgtga aacagatctt tggcttcgag agtaacaaga agaacttggt
     1621 ggaccccttt gtggaggtca gctttgcggg gaaaatgctg tgcagcaaga tcttggagaa
     1681 gacggccaac cctcagtgga accagaacat cacactgcct gccatgtttc cctccatgtg
     1741 cgaaaaaatg aggattcgta tcatagactg ggaccgcctg actcacaatg acatcgtggc
     1801 taccacctac ctgagtatgt cgaaaatctc tgcccctgga ggagaaatag aagaggagcc
     1861 tgcaggtgct gtcaagcctt cgaaagcctc agacttggat gactacctgg gcttcctccc
     1921 cacttttggg ccctgctaca tcaacctcta tggcagtccc agagagttca caggcttccc
     1981 agacccctac acagagctca acacaggcaa gggggaaggt gtggcttatc gtggccggct
     2041 tctgctctcc ctggagacca agctggtgga gcacagtgaa cagaaggtgg aggaccttcc
     2101 tgcggatgac atcctccggg tggagaagta ccttaggagg cgcaagtact ccctgtttgc
     2161 ggccttctac tcagccacca tgctgcagga tgtggatgat gccatccagt ttgaggtcag
     2221 catcgggaac tacgggaaca agttcgacat gacctgcctg ccgctggcct ccaccactca
     2281 gtacagccgt gcagtctttg acgggtgcca ctactactac ctaccctggg gtaacgtgaa
     2341 acctgtggtg gtgctgtcat cctactggga ggacatcagc catagaatcg agactcagaa
     2401 ccagctgctt gggattgctg accggctgga agctggcctg gagcaggtcc acctggccct
     2461 gaaggcgcag tgctccacgg aggacgtgga ctcgctggtg gctcagctga cggatgagct
     2521 catcgcaggc tgcagccagc ctctgggtga catccatgag acaccctctg ccacccacct
     2581 ggaccagtac ctgtaccagc tgcgcaccca tcacctgagc caaatcactg aggctgccct
     2641 ggccctgaag ctcggccaca gtgagctccc tgcagctctg gagcaggcgg aggactggct
     2701 cctgcgtctg cgtgccctgg cagaggagcc ccagaacagc ctgccggaca tcgtcatctg
     2761 gatgctgcag ggagacaagc gtgtggcata ccagcgggtg cccgcccacc aagtcctctt
     2821 ctcccggcgg ggtgccaact actgtggcaa gaattgtggg aagctacaga caatctttct
     2881 gaaatatccg atggagaagg tgcctggcgc ccggatgcca gtgcagatac gggtcaagct
     2941 gtggtttggg ctctctgtgg atgagaagga gttcaaccag tttgctgagg ggaagctgtc
     3001 tgtctttgct gaaacctatg agaacgagac taagttggcc cttgttggga actggggcac
     3061 aacgggcctc acctacccca agttttctga cgtcacgggc aagatcaagc tacccaagga
     3121 cagcttccgc ccctcggccg gctggacctg ggctggagat tggttcgtgt gtccggagaa
     3181 gactctgctc catgacatgg acgccggtca cctgagcttc gtggaagagg tgtttgagaa
     3241 ccagacccgg cttcccggag gccagtggat ctacatgagt gacaactaca ccgatgtgaa
     3301 cggggagaag gtgcttccca aggatgacat tgagtgccca ctgggctgga agtgggaaga
     3361 tgaggaatgg tccacagacc tcaaccgggc tgtcgatgag caaggctggg agtatagcat
     3421 caccatcccc ccggagcgga agccgaagca ctgggtccct gctgagaaga tgtactacac
     3481 acaccgacgg cggcgctggg tgcgcctgcg caggagggat ctcagccaaa tggaagcact
     3541 gaaaaggcac aggcaggcgg aggcggaggg cgagggctgg gagtacgcct ctctttttgg
     3601 ctggaagttc cacctcgagt accgcaagac agatgccttc cgccgccgcc gctggcgccg
     3661 tcgcatggag ccactggaga agacggggcc tgcagctgtg tttgcccttg agggggccct
     3721 gggcggcgtg atggatgaca agagtgaaga ttccatgtcc gtctccacct tgagcttcgg
     3781 tgtgaacaga cccacgattt cctgcatatt cgactatggg aaccgctacc atctacgctg
     3841 ctacatgtac caggcccggg acctggctgc gatggacaag gactcttttt ctgatcccta
     3901 tgccatcgtc tccttcctgc accagagcca gaagacggtg gtggtgaaga acacccttaa
     3961 ccccacctgg gaccagacgc tcatcttcta cgagatcgag atctttggcg agccggccac
     4021 agttgctgag caaccgccca gcattgtggt ggagctgtac gaccatgaca cttatggtgc
     4081 agacgagttt atgggtcgct gcatctgtca accgagtctg gaacggatgc cacggctggc
     4141 ctggttccca ctgacgaggg gcagccagcc gtcgggggag ctgctggcct cttttgagct
     4201 catccagaga gagaagccgg ccatccacca tattcctggt tttgaggtgc aggagacatc
     4261 aaggatcctg gatgagtctg aggacacaga cctgccctac ccaccacccc agagggaggc
     4321 caacatctac atggttcctc agaacatcaa gccagcgctc cagcgtaccg ccatcgagat
     4381 cctggcatgg ggcctgcgga acatgaagag ttaccagctg gccaacatct cctcccccag
     4441 cctcgtggta gagtgtgggg gccagacggt gcagtcctgt gtcatcagga acctccggaa
     4501 gaaccccaac tttgacatct gcaccctctt catggaagtg atgctgccca gggaggagct
     4561 ctactgcccc cccatcaccg tcaaggtcat cgataaccgc cagtttggcc gccggcctgt
     4621 ggtgggccag tgtaccatcc gctccctgga gagcttcctg tgtgacccct actcggcgga
     4681 gagtccatcc ccacagggtg gcccagacga tgtgagccta ctcagtcctg gggaagacgt
     4741 gctcatcgac attgatgaca aggagcccct catccccatc caggaggaag agttcatcga
     4801 ttggtggagc aaattctttg cctccatagg ggagagggaa aagtgcggct cctacctgga
     4861 gaaggatttt gacaccctga aggtctatga cacacagctg gagaatgtgg aggcctttga
     4921 gggcctgtct gacttttgta acaccttcaa gctgtaccgg ggcaagacgc aggaggagac
     4981 agaagatcca tctgtgattg gtgaatttaa gggcctcttc aaaatttatc ccctcccaga
     5041 agacccagcc atccccatgc ccccaagaca gttccaccag ctggccgccc agggacccca
     5101 ggagtgcttg gtccgtatct acattgtccg agcatttggc ctgcagccca aggaccccaa
     5161 tggaaagtgt gatccttaca tcaagatctc catagggaag aaatcagtga gtgaccagga
     5221 taactacatc ccctgcacgc tggagcccgt atttggaaag atgttcgagc tgacctgcac
     5281 tctgcctctg gagaaggacc taaagatcac tctctatgac tatgacctcc tctccaagga
     5341 cgaaaagatc ggtgagacgg tcgtcgacct ggagaacagg ctgctgtcca agtttggggc
     5401 tcgctgtgga ctcccacaga cctactgtgt ctctggaccg aaccagtggc gggaccagct
     5461 ccgcccctcc cagctcctcc acctcttctg ccagcagcat agagtcaagg cacctgtgta
     5521 ccggacagac cgtgtaatgt ttcaggataa agaatattcc attgaagaga tagaggctgg
     5581 caggatccca aacccacacc tgggcccagt ggaggagcgt ctggctctgc atgtgcttca
     5641 gcagcagggc ctggtcccgg agcacgtgga gtcacggccc ctctacagcc ccctgcagcc
     5701 agacatcgag caggggaagc tgcagatgtg ggtcgaccta tttccgaagg ccctggggcg
     5761 gcctggacct cccttcaaca tcaccccacg gagagccaga aggtttttcc tgcgttgtat
     5821 tatctggaat accagagatg tgatcctgga tgacctgagc ctcacggggg agaagatgag
     5881 cgacatttat gtgaaaggtt ggatgattgg ctttgaagaa cacaagcaaa agacagacgt
     5941 gcattatcgt tccctgggag gtgaaggcaa cttcaactgg aggttcattt tccccttcga
     6001 ctacctgcca gctgagcaag tctgtaccat tgccaagaag gatgccttct ggaggctgga
     6061 caagactgag agcaaaatcc cagcacgagt ggtgttccag atctgggaca atgacaagtt
     6121 ctcctttgat gattttctgg gctccctgca gctcgatctc aaccgcatgc ccaagccagc
     6181 caagacagcc aagaagtgct ccttggacca gctggatgat gctttccacc cagaatggtt
     6241 tgtgtccctt tttgagcaga aaacagtgaa gggctggtgg ccctgtgtag cagaagaggg
     6301 tgagaagaaa atactggcgg gcaagctgga aatgaccttg gagattgtag cagagagtga
     6361 gcatgaggag cggcctgctg gccagggccg ggatgagccc aacatgaacc ctaagcttga
     6421 ggacccaagg cgccccgaca cctccttcct gtggtttacc tccccataca agaccatgaa
     6481 gttcatcctg tggcggcgtt tccggtgggc catcatcctc ttcatcatcc tcttcatcct
     6541 gctgctgttc ctggccatct tcatctacgc cttcccgaac tatgctgcca tgaagctggt
     6601 gaagcccttc agctgaggac tctcctgccc tgtagaaggg gccgtggggt cccctccagc
     6661 atgggactgg cctgcctcct ccgcccagct cggcgagctc ctccagacct cctaggcctg
     6721 attgtcctgc cagggtgggc agacagacag atggaccggc ccacactccc agagttgcta
     6781 acatggagct ctgagatcac cccacttcca tcatttcctt ctcccccaac ccaacgcttt
     6841 tttggatcag ctcagacata tttcagtata aaacagttgg aaccacaaaa aaaaaaaaaa
     6901 aaaaaaaaaa a
//



