LOCUS EU515163 6606 bp mRNA linear HUM 19-AUG-2010 DEFINITION Homo sapiens dysferlin variant V1_4 (DYSF) mRNA, complete cds, alternatively spliced. ACCESSION EU515163 VERSION EU515163.1 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 6606) 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 6606) 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dysferlin variants from alternative splicing: implications for dysferlin mutational screening and isoforms JOURNAL Unpublished REFERENCE 3 (bases 1 to 6606) AUTHORS Pramono,Z.A.D., Tan,C.L., See,J.S.L., Lim,C.C., Lai,P.S. and Yee,W.C. TITLE Direct Submission JOURNAL Submitted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..6606 /db_xref="H-InvDB:HIT000484999" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13" gene 1..6606 /gene="DYSF" CDS 142..6450 /gene="DYSF" /note="alternatively spliced" /codon_start=1 /product="dysferlin variant V1_4" /protein_id="ACB12760.1" /translation="MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVN PVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASF NAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEED TEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKP QDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPG ELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGA RGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDL PQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLP AMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASD LDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLV EHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNK FDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGI ADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQY LYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWM LQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVK LWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKL PKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDN YTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVP AEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTD AFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCI FDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTL IFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLT RGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIY MVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKN PNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSA ESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEE EFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRG KTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAF GLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKIT LYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHL FCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVP EHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNT RDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYL PAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPA KTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAE SEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFII LFILLLFLAIFIYAFPNYAAMKLVKPFS" BASE COUNT 1458 a 1923 c 1914 g 1311 t ORIGIN 1 tctccgcgga ggagcagcga aggcgacagc tctcttggcg cggctgcctg ggagccgggc 61 gcttgctggg tgggtgctcg ggcccggtgc tcccgctccc gccctgactg cgcgcctgtg 121 tgccgccggg gctgcccagc catgctgtgc tgcctgctgg tgagggccag caacctcccc 181 agtgcgaaga aggaccggcg cagcgaccct gtcgcaagcc tgactttccg aggggtgaag 241 aagagaacca aagtcatcaa gaacagcgtg aaccctgtat ggaatgaggg atttgaatgg 301 gacctcaagg gcatccccct ggaccagggc tctgagcttc atgtggtggt caaagaccat 361 gagacgatgg ggaggaacag gttcctgggg gaagccaagg tcccactccg agaggtcctc 421 gccaccccta gtctgtccgc cagcttcaat gcccccctgc tggacaccaa gaagcagccc 481 acaggggcct cgctggtcct gcaggtgtcc tacacaccgc tgcctggagc tgtgcccctg 541 ttcccgcccc ctactcctct ggagccctcc ccgactctgc ctgacctgga tgtagtggca 601 gacacaggag gagaggaaga cacagaggac cagggactca ctggagatga ggcggagcca 661 ttcctggatc aaagcggagg cccgggggct cccaccaccc caaggaaact accttcacgt 721 cctccgcccc actaccccgg gatcaaaaga aagcgaagtg cgcctacatc tagaaagctg 781 ctgtcagaca aaccgcagga tttccagatc agggtccagg tgatcgaggg gcgccagctg 841 ccgggggtga acatcaagcc tgtggtcaag gttaccgctg cagggcagac caagcggacg 901 cggatccaca agggaaacag cccactcttc aatgagactc ttttcttcaa cttgtttgac 961 tctcctgggg agctgtttga tgagcccatc tttatcacgg tggtagactc tcgttctctc 1021 aggacagatg ctctcctcgg ggagttccgg atggacgtgg gcaccattta cagagagccc 1081 cggcacgcct atctcaggaa gtggctgctg ctctcagacc ctgatgactt ctctgctggg 1141 gccagaggct acctgaaaac aagcctttgt gtgctggggc ctggggacga agcgcctctg 1201 gagagaaaag acccctctga agacaaggag gacattgaaa gcaacctgct ccggcccaca 1261 ggcgtagccc tgcgaggagc ccacttctgc ctgaaggtct tccgggccga ggacttgccg 1321 cagatggacg atgccgtgat ggacaacgtg aaacagatct ttggcttcga gagtaacaag 1381 aagaacttgg tggacccctt tgtggaggtc agctttgcgg ggaaaatgct gtgcagcaag 1441 atcttggaga agacggccaa ccctcagtgg aaccagaaca tcacactgcc tgccatgttt 1501 ccctccatgt gcgaaaaaat gaggattcgt atcatagact gggaccgcct gactcacaat 1561 gacatcgtgg ctaccaccta cctgagtatg tcgaaaatct ctgcccctgg aggagaaata 1621 gaagaggagc ctgcaggtgc tgtcaagcct tcgaaagcct cagacttgga tgactacctg 1681 ggcttcctcc ccacttttgg gccctgctac atcaacctct atggcagtcc cagagagttc 1741 acaggcttcc cagaccccta cacagagctc aacacaggca agggggaagg tgtggcttat 1801 cgtggccggc ttctgctctc cctggagacc aagctggtgg agcacagtga acagaaggtg 1861 gaggaccttc ctgcggatga catcctccgg gtggagaagt accttaggag gcgcaagtac 1921 tccctgtttg cggccttcta ctcagccacc atgctgcagg atgtggatga cgccatccag 1981 tttgaggtca gcatcgggaa ctacgggaac aagttcgaca tgacctgcct gccgctggcc 2041 tccaccactc agtacagccg tgcagtcttt gacgggtgcc actactacta cctaccctgg 2101 ggtaacgtga aacctgtggt ggtgctgtca tcctactggg aggacatcag ccatagaatc 2161 gagactcaga accagctgct tgggattgct gaccggctgg aagctggcct ggagcaggtc 2221 cacctggccc tgaaggcgca gtgctccacg gaggacgtgg actcgctggt ggctcagctg 2281 acggatgagc tcatcgcagg ctgcagccag cctctgggtg acatccatga gacaccctct 2341 gccacccacc tggaccagta cctgtaccag ctgcgcaccc atcacctgag ccaaatcact 2401 gaggctgccc tggccctgaa gctcggccac agtgagctcc ctgcagctct ggagcaggcg 2461 gaggactggc tcctgcgtct gcgtgccctg gcagaggagc cccagaacag cctgccggac 2521 atcgtcatct ggatgctgca gggagacaag cgtgtggcat accagcgggt gcccgcccac 2581 caagtcctct tctcccggcg gggtgccaac tactgtggca agaattgtgg gaagctacag 2641 acaatctttc tgaaatatcc gatggagaag gtgcctggcg cccggatgcc agtgcagata 2701 cgggtcaagc tgtggtttgg gctctctgtg gatgagaagg agttcaacca gtttgctgag 2761 gggaagctgt ctgtctttgc tgaaacctat gagaacgaga ctaagttggc ccttgttggg 2821 aactggggca caacgggcct cacctacccc aagttttctg acgtcacggg caagatcaag 2881 ctacccaagg acagcttccg cccctcggcc ggctggacct gggctggaga ttggttcgtg 2941 tgtccggaga agactctgct ccatgacatg gacgccggtc acctgagctt cgtggaagag 3001 gtgtttgaga accagacccg gcttcccgga ggccagtgga tctacatgag tgacaactac 3061 accgatgtga acggggagaa ggtgcttccc aaggatgaca ttgagtgccc actgggctgg 3121 aagtgggaag atgaggaatg gtccacagac ctcaaccggg ctgtcgatga gcaaggctgg 3181 gagtatagca tcaccatccc cccggagcgg aagccgaagc actgggtccc tgctgagaag 3241 atgtactaca cacaccgacg gcggcgctgg gtgcgcctgc gcaggaggga tctcagccaa 3301 atggaagcac tgaaaaggca caggcaggcg gaggcggagg gcgagggctg ggagtacgcc 3361 tctctttttg gctggaagtt ccacctcgag taccgcaaga cagatgcctt ccgccgccgc 3421 cgctggcgcc gtcgcatgga gccactggag aagacggggc ctgcagctgt gtttgccctt 3481 gagggggccc tgggcggcgt gatggatgac aagagtgaag attccatgtc cgtctccacc 3541 ttgagcttcg gtgtgaacag acccacgatt tcctgcatat tcgactatgg gaaccgctac 3601 catctacgct gctacatgta ccaggcccgg gacctggctg cgatggacaa ggactctttt 3661 tctgatccct atgccattgt ctccttcctg caccagagcc agaagacggt ggtggtgaag 3721 aacaccctta accccacctg ggaccagacg ctcatcttct acgagatcga gatctttggc 3781 gagccggcca cagttgctga gcaaccgccc agcattgtgg tggagctgta cgaccatgac 3841 acttatggtg cagacgagtt tatgggtcgc tgcatctgtc aaccgagtct ggaacggatg 3901 ccacggctgg cctggttccc actgacgagg ggcagccagc cgtcggggga gctgctggcc 3961 tcttttgagc tcatccagag agagaagccg gccatccacc atattcctgg ttttgaggtg 4021 caggagacat caaggatcct ggatgagtct gaggacacag acctgcccta cccaccaccc 4081 cagagggagg ccaacatcta catggttcct cagaacatca agccagcgct ccagcgtacc 4141 gccatcgaga tactggcatg gggcctgcgg aacatgaaga gttaccagct ggccaacatc 4201 tcctccccca gcctcgtggt agagtgtggg ggccagacgg tgcagtcctg tgtcatcagg 4261 aacctccgga agaaccccaa ctttgacatc tgcaccctct tcatggaagt gatgctgccc 4321 agggaggagc tctactgccc ccccatcacc gtcaaggtca tcgataaccg ccagtttggc 4381 cgccggcctg tggtgggcca gtgtaccatc cgctccctgg agagcttcct gtgtgacccc 4441 tactcggcgg agagtccatc cccacagggt ggcccagacg atgtgagcct actcagtcct 4501 ggggaagacg tgctcatcga cattgatgac aaggagcccc tcatccccat ccagcttgca 4561 gacggtctgt cgagcttggc ccccactaac acggcttctc ctccatccag tcctcatgag 4621 gaagagttca tcgattggtg gagcaaattc tttgcctcca taggggagag ggaaaagtgc 4681 ggctcctacc tggagaagga ttttgacacc ttgaaggtct atgacacaca gctggagaat 4741 gtggaggcct ttgagggcct gtctgacttt tgtaacacct tcaagctgta ccggggcaag 4801 acgcaggagg agacagaaga tccatctgtg attggtgaat ttaagggcct cttcaaaatt 4861 tatcccctcc cagaagaccc agccatcccc atgcccccaa gacagttcca ccagctggcc 4921 gcccagggac cccaggagtg cttggtccgt atctacattg tccgagcatt tggcctgcag 4981 cccaaggacc ccaatggaaa gtgtgatcct tacatcaaga tctccatagg gaagaaatca 5041 gtgagtgacc aggataacta catcccctgc acgctggagc ccgtatttgg aaagatgttc 5101 gagctgacct gcactctgcc tctggagaag gacctaaaga tcactctcta tgactatgac 5161 ctcctctcca aggacgaaaa gatcggtgag acggtcgtcg acctggagaa caggctgctg 5221 tccaagtttg gggctcgctg tggactccca cagacctact gtgtctctgg accgaaccag 5281 tggcgggacc agctccgccc ctcccagctc ctccacctct tctgccagca gcatagagtc 5341 aaggcacctg tgtaccggac agaccgtgta atgtttcagg ataaagaata ttccattgaa 5401 gagatagagg ctggcaggat cccaaaccca cacctgggcc cagtggagga gcgtctggct 5461 ctgcatgtgc ttcagcagca gggcctggtc ccggagcacg tggagtcacg gcccctctac 5521 agccccctgc agccagacat cgagcagggg aagctgcaga tgtgggtcga cctatttccg 5581 aaggccctgg ggcggcctgg acctcccttc aacatcaccc cacggagagc cagaaggttt 5641 ttcctgcgtt gtattatctg gaataccaga gatgtgatcc tggatgacct gagcctcacg 5701 ggggagaaga tgagcgacat ttatgtgaaa ggttggatga ttggctttga agaacacaag 5761 caaaagacag acgtgcatta tcgttccctg ggaggtgaag gcaacttcaa ctggaggttc 5821 attttcccct tcgactacct gccagctgag caagtctgta ccattgccaa gaaggatgcc 5881 ttctggaggc tggacaagac tgagagcaaa atcccagcac gagtggtgtt ccagatctgg 5941 gacaatgaca agttctcctt tgatgatttt ctgggctccc tgcagctcga tctcaaccgc 6001 atgcccaagc cagccaagac agccaagaag tgctccttgg accagctgga tgatgctttc 6061 cacccagaat ggtttgtgtc cctttttgag cagaaaacag tgaagggctg gtggccctgt 6121 gtagcagaag agggtgagaa gaaaatactg gcgggcaagc tggaaatgac cttggagatt 6181 gtagcagaga gtgagcatga ggagcggcct gctggccagg gccgggatga gcccaacatg 6241 aaccctaagc ttgaggaccc aaggcgcccc gacacctcct tcctgtggtt tacctcccca 6301 tacaagacca tgaagttcat cctgtggcgg cgtttccggt gggccatcat cctcttcatc 6361 atcctcttca tcctgctgct gttcctggcc atcttcatct acgccttccc gaactatgct 6421 gccatgaagc tggtgaagcc cttcagctga ggactctcct gccctgtaga aggggccgtg 6481 gggtcccctc cagcatggga ctggcctgcc tcctccgccc agctcggcga gctcctccag 6541 acctcctagg cctgattgtc ctgccagggt gggcagacag acagatggac cggcccacac 6601 tcccag //