LOCUS AF075575 6911 bp mRNA linear HUM 09-OCT-1998 DEFINITION Homo sapiens dysferlin mRNA, complete cds. ACCESSION AF075575 VERSION AF075575.1 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 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 Nat. Genet. 20 (1), 31-36 (1998) PUBMED 9731526 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 /db_xref="H-InvDB:HIT000066155" /organism="Homo sapiens" /mol_type="mRNA" /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" /protein_id="AAC63519.1" /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 //