LOCUS EU515159 6697 bp mRNA linear HUM 19-AUG-2010 DEFINITION Homo sapiens dysferlin variant 6 (DYSF) mRNA, complete cds, alternatively spliced. ACCESSION EU515159 VERSION EU515159.1 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 6697) AUTHORS Pramono,Z.A., Tan,C.L., Seah,I.A., See,J.S., Kam,S.Y., Lai,P.S. and Yee,W.C. TITLE Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms JOURNAL Hum. Genet. 125 (4), 413-420 (2009) PUBMED 19221801 REFERENCE 2 (bases 1 to 6697) AUTHORS Pramono,Z.A.D., Kam,S.Y., Ho,M.F., Tan,C.L., Lim,C.C., See,J.S.L., Lai,P.S. and Yee,W.C. TITLE Human dysferlin variants from alternative splicing: implications for dysferlin mutational screening and isoforms JOURNAL Unpublished REFERENCE 3 (bases 1 to 6697) AUTHORS Pramono,Z.A.D., Tan,C.L., See,J.S.L., Lim,C.C., Lai,P.S. and Yee,W.C. TITLE Direct Submission JOURNAL Submitted (22-FEB-2008) Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng 308433, Singapore FEATURES Location/Qualifiers source 1..6697 /db_xref="H-InvDB:HIT000484995" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13" gene 1..6697 /gene="DYSF" CDS 278..6541 /gene="DYSF" /note="alternatively spliced" /codon_start=1 /product="dysferlin variant 6" /protein_id="ACB12756.1" /translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDT EDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQ DFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGE LFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGAR GYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLP QMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEVDDYLGFLPTFGPCY INLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDI LRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYS RAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLAL KAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEA ALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAH QVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQF AEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAG DWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDI ECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVR LRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLE KTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQ ARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVA EQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFEL IQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAI EILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLP REELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLL SPGEDVLIDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEEEFIDWWSKFFASIGE REKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEF KGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYI KISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGE TVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTD RVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPD IEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKM SDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFW RLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAF HPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEP NMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAF PNYAAMKLVKPFS" BASE COUNT 1486 a 1962 c 1931 g 1318 t ORIGIN 1 gggtggaaga tgagcagaag cccctgttct cggaacgccg gctgacaagc ggggtgagcg 61 caggcggggc ggggacccag cctagcccac tggagcagcc gggggtggcc cgttcccctt 121 taagagcaac tgctctaagc caggagccag agattcgagc cggcctcgcc cagccagccc 181 tctccagcga ggggacccac aagcggcgcc tcggccctcc cgacctttcc gagccctctt 241 tgcgccctgg gcgcacgggg ccctacacgc gccaagcatg ctgagggtct tcatcctcta 301 tgccgagaac gtccacacac ccgacaccga catcagcgat gcctactgct ccgcggtgtt 361 tgcaggggtg aagaagagaa ccaaagtcat caagaacagc gtgaaccctg tatggaatga 421 gggatttgaa tgggacctca agggcatccc cctggaccag ggctctgagc ttcatgtggt 481 ggtcaaagac catgagacga tggggaggaa caggttcctg ggggaagcca aggtcccact 541 ccgagaggtc ctcgccaccc ctagtctgtc cgccagcttc aatgcccccc tgctggacac 601 caagaagcag cccacagggg cctcgctggt cctgcaggtg tcctacacac cgctgcctgg 661 agctgtgccc ctgttcccgc cccctactcc tctggagccc tccccgactc tgcctgacct 721 ggatgtagtg gcagacacag gaggagagga agacacagag gaccagggac tcactggaga 781 tgaggcggag ccattcctgg atcaaagcgg aggcccgggg gctcccacca ccccaaggaa 841 actaccttca cgtcctccgc cccactaccc cgggatcaaa agaaagcgaa gtgcgcctac 901 atctagaaag ctgctgtcag acaaaccgca ggatttccag atcagggtcc aggtgatcga 961 ggggcgccag ctgccggggg tgaacatcaa gcctgtggtc aaggttaccg ctgcagggca 1021 gaccaagcgg acgcggatcc acaagggaaa cagcccactc ttcaatgaga ctcttttctt 1081 caacttgttt gactctcctg gggagctgtt tgatgagccc atctttatca cggtggtaga 1141 ctctcgttct ctcaggacag atgctctcct cggggagttc cggatggacg tgggcaccat 1201 ttacagagag ccccggcacg cctatctcag gaagtggctg ctgctctcag accctgatga 1261 cttctctgct ggggccagag gctacctgaa aacaagcctt tgtgtgctgg ggcctgggga 1321 cgaagcgcct ctggagagaa aagacccctc tgaagacaag gaggacattg aaagcaacct 1381 gctccggccc acaggcgtag ccctgcgagg agcccacttc tgcctgaagg tcttccgggc 1441 cgaggacttg ccgcagatgg acgatgccgt gatggacaac gtgaaacaga tctttggctt 1501 cgagagtaac aagaagaact tggtggaccc ctttgtggag gtcagctttg cggggaaaat 1561 gctgtgcagc aagatcttgg agaagacggc caaccctcag tggaaccaga acatcacact 1621 gcctgccatg tttccctcca tgtgcgaaaa aatgaggatt cgtatcatag actgggaccg 1681 cctgactcac aatgacatcg tggctaccac ctacctgagt atgtcgaaaa tctctgcccc 1741 tggaggagaa atagaagtgg atgactacct gggcttcctc cccacttttg ggccctgcta 1801 catcaacctc tatggcagtc ccagagagtt cacaggcttc ccagacccct acacagagct 1861 caacacaggc aagggggaag gtgtggctta tcgtggccgg cttctgctct ccctggagac 1921 caagctggtg gagcacagtg aacagaaggt ggaggacctt cctgcggatg acatcctccg 1981 ggtggagaag taccttagga ggcgcaagta ctccctgttt gcggccttct actcagccac 2041 catgctgcag gatgtggatg atgccatcca gtttgaggtc agcatcggga actacgggaa 2101 caagttcgac atgacctgcc tgccgctggc ctccaccact cagtacagcc gtgcagtctt 2161 tgacgggtgc cactactact acctaccctg gggtaacgtg aaacctgtgg tggtgctgtc 2221 atcctactgg gaggacatca gccatagaat cgagactcag aaccagctgc ttgggattgc 2281 tgaccggctg gaagctggcc tggagcaggt ccacctggcc ctgaaggcgc agtgctccac 2341 ggaggacgtg gactcgctgg tggctcagct gacggatgag ctcatcgcag gctgcagcca 2401 gcctctgggt gacatccatg agacaccctc tgccacccac ctggaccagt acctgtacca 2461 gctgcgcacc catcacctga gccaaatcac tgaggctgcc ctggccctga agctcggcca 2521 cagtgagctc cctgcagctc tggagcaggc ggaggactgg ctcctgcgtc tgcgtgccct 2581 ggcagaggag ccccagaaca gcctgccgga catcgtcatc tggatgctgc agggagacaa 2641 gcgtgtggca taccagcggg tgcccgccca ccaagtcctc ttctcccggc ggggtgccaa 2701 ctactgtggc aagaattgtg ggaagctaca gacaatcttt ctgaaatatc cgatggagaa 2761 ggtgcctggc gcccggatgc cagtgcagat acgggtcaag ctgtggtttg ggctctctgt 2821 ggatgagaag gagttcaacc agtttgctga ggggaagctg tctgtctttg ctgaaaccta 2881 tgagaacgag actaagttgg cccttgttgg gaactggggc acaacgggcc tcacctaccc 2941 caagttttct gacgtcacgg gcaagatcaa gctacccaag gacagcttcc gcccctcggc 3001 cggctggacc tgggctggag attggttcgt gtgtccggag aagactctgc tccatgacat 3061 ggacgccggt cacctgagct tcgtggaaga ggtgtttgag aaccagaccc ggcttcccgg 3121 aggccagtgg atctacatga gtgacaacta caccgatgtg aacggggaga aggtgcttcc 3181 caaggatgac attgagtgcc cactgggctg gaagtgggaa gatgaggaat ggtccacaga 3241 cctcaaccgg gctgtcgatg agcaaggctg ggagtatagc atcaccatcc ccccggagcg 3301 gaagccgaag cactgggtcc ctgctgagaa gatgtactac acacaccgac ggcggcgctg 3361 ggtgcgcctg cgcaggaggg atctcagcca aatggaagca ctgaaaaggc acaggcaggc 3421 ggaggcggag ggcgagggct gggagtacgc ctctcttttt ggctggaagt tccacctcga 3481 gtaccgcaag acagatgcct tccgccgccg ccgctggcgc cgtcgcatgg agccactgga 3541 gaagacgggg cctgcagctg tgtttgccct tgagggggcc ctgggcggcg tgatggatga 3601 caagagtgaa gattccatgt ccgtctccac cttgagcttc ggtgtgaaca gacccacgat 3661 ttcctgcata ttcgactatg ggaaccgcta ccatctacgc tgctacatgt accaggcccg 3721 ggacctggct gcgatggaca aggactcttt ttctgatccc tatgccatcg tctccttcct 3781 gcaccagagc cagaagacgg tggtggtgaa gaacaccctt aaccccacct gggaccagac 3841 gctcatcttc tacgagatcg agatctttgg cgagccggcc acagttgctg agcaaccgcc 3901 cagcattgtg gtggagctgt acgaccatga cacttatggt gcagacgagt ttatgggtcg 3961 ctgcatctgt caaccgagtc tggaacggat gccacggctg gcctggttcc cactgacgag 4021 gggcagccag ccgtcggggg agctgctggc ctcttttgag ctcatccaga gagagaagcc 4081 ggccatccac catattcctg gttttgaggt gcaggagaca tcaaggatcc tggatgagtc 4141 tgaggacaca gacctgccct acccaccacc ccagagggag gccaacatct acatggttcc 4201 tcagaacatc aagccagcgc tccagcgtac cgccatcgag atcctggcat ggggcctgcg 4261 gaacatgaag agttaccagc tggccaacat ctcctccccc agcctcgtgg tagagtgtgg 4321 gggccagacg gtgcagtcct gtgtcatcag gaacctccgg aagaacccca actttgacat 4381 ctgcaccctc ttcatggaag tgatgctgcc cagggaggag ctctactgcc cccccatcac 4441 cgtcaaggtc atcgataacc gccagtttgg ccgccggcct gtggtgggcc agtgtaccat 4501 ccgctccctg gagagcttcc tgtgtgaccc ctactcggcg gagagtccat ccccacaggg 4561 tggcccagac gatgtgagcc tactcagtcc tggggaagac gtgctcatcg acattgatga 4621 caaggagccc ctcatcccca tccagcttgc agacggtctg tcgagcttgg cccccactaa 4681 cacggcttct cctccatcca gtcctcatga ggaagagttc atcgattggt ggagcaaatt 4741 ctttgcctcc ataggggaga gggaaaagtg cggctcctac ctggagaagg attttgacac 4801 cctgaaggtc tatgacacac agctggagaa tgtggaggcc tttgagggcc tgtctgactt 4861 ttgtaacacc ttcaagctgt accggggcaa gacgcaggag gagacagaag atccatctgt 4921 gattggtgaa tttaagggcc tcttcaaaat ttatcccctc ccagaagacc cagccatccc 4981 catgccccca agacagttcc accagctggc cgcccaggga ccccaggagt gcttggtccg 5041 tatctacatt gtccgagcat ttggcctgca gcccaaggac cccaatggaa agtgtgatcc 5101 ttacatcaag atctccatag ggaagaaatc agtgagtgac caggataact acatcccctg 5161 cacgctggag cccgtatttg gaaagatgtt cgagctgacc tgcactctgc ctctggagaa 5221 ggacctaaag atcactctct atgactatga cctcctctcc aaggacgaaa agatcggtga 5281 gacggtcgtc gacctggaga acaggctgct gtccaagttt ggggctcgct gtggactccc 5341 acagacctac tgtgtctctg gaccgaacca gtggcgggac cagctccgcc cctcccagct 5401 cctccacctc ttctgccagc agcatagagt caaggcacct gtgtaccgga cagaccgtgt 5461 aatgtttcag gataaagaat attccattga agagatagag gctggcagga tcccaaaccc 5521 acacctgggc ccagtggagg agcgtctggc tctgcatgtg cttcagcagc agggcctggt 5581 cccggagcac gtggagtcac ggcccctcta cagccccctg cagccagaca tcgagcaggg 5641 gaagctgcag atgtgggtcg acctatttcc gaaggccctg gggcggcctg gacctccctt 5701 caacatcacc ccacggagag ccagaaggtt tttcctgcgt tgtattatct ggaataccag 5761 agatgtgatc ctggatgacc tgagcctcac gggggagaag atgagcgaca tttatgtgaa 5821 aggttggatg attggctttg aagaacacaa gcaaaagaca gacgtgcatt atcgttccct 5881 gggaggtgaa ggcaacttca actggaggtt cattttcccc ttcgactacc tgccagctga 5941 gcaagtctgt accattgcca agaaggatgc cttctggagg ctggacaaga ctgagagcaa 6001 aatcccagca cgagtggtgt tccagatctg ggacaatgac aagttctcct ttgatgattt 6061 tctgggctcc ctgcagctcg atctcaaccg catgcccaag ccagccaaga cagccaagaa 6121 gtgctccttg gaccagctgg atgatgcttt ccacccagaa tggtttgtgt ccctttttga 6181 gcagaaaaca gtgaagggct ggtggccctg tgtagcagaa gagggtgaga agaaaatact 6241 ggcgggcaag ctggaaatga ccttggagat tgtagcagag agtgagcatg aggagcggcc 6301 tgctggccag ggccgggatg agcccaacat gaaccctaag cttgaggacc caaggcgccc 6361 cgacacctcc ttcctgtggt ttacctcccc atacaagacc atgaagttca tcctgtggcg 6421 gcgtttccgg tgggccatca tcctcttcat catcctcttc atcctgctgc tgttcctggc 6481 catcttcatc tacgccttcc cgaactatgc tgccatgaag ctggtgaagc ccttcagctg 6541 aggactctcc tgccctgtag aaggggccgt ggggtcccct ccagcatggg actggcctgc 6601 ctcctccgcc cagctcggcg agctcctcca gacctcctag gcctgattgt cctgccaggg 6661 tgggcagaca gacagatgga ccggcccaca ctcccag //