LOCUS EU515166 6657 bp mRNA linear HUM 19-AUG-2010 DEFINITION Homo sapiens dysferlin variant V1_7 (DYSF) mRNA, complete cds, alternatively spliced. ACCESSION EU515166 VERSION EU515166.1 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 6657) 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 6657) 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dysferlin variants from alternative splicing: implications for dysferlin mutational screening and isoforms JOURNAL Unpublished REFERENCE 3 (bases 1 to 6657) AUTHORS Pramono,Z.A.D., Tan,C.L., See,J.S.L., Lim,C.C., Lai,P.S. and Yee,W.C. TITLE Direct Submission JOURNAL Submitted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..6657 /db_xref="H-InvDB:HIT000485002" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13" gene 1..6657 /gene="DYSF" CDS 142..6501 /gene="DYSF" /note="alternatively spliced" /codon_start=1 /product="dysferlin variant V1_7" /protein_id="ACB12763.1" /translation="MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVN PVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASF NAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRA ETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTP RKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVT AAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFR MDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDP FVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVA TTYLSMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGE GVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQD VDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSY WEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQ PLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLR ALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKY PMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGT TGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVF ENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGW EYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWE YASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSM SVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQ KTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCI CQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDES EDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVE CGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVG QCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQLADGLS SLAPTNTASPPSSPHEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVE AFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLA AQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGK MFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVS GPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGP VEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNI TPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSL GGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFD DFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGE KKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTM KFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS" BASE COUNT 1469 a 1939 c 1935 g 1314 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 ggcgggggac agagccgggc cgagacttgg tccctgctca gtgacagcac catggacacg 661 agatactctg gaaagaagtg gccggccccc acggacacag gaggagagga agacacagag 721 gaccagggac tcactggaga tgaggcggag ccattcctgg atcaaagcgg aggcccgggg 781 gctcccacca ccccaaggaa actaccttca cgtcctccgc cccactaccc cgggatcaaa 841 agaaagcgaa gtgcgcctac atctagaaag ctgctgtcag acaaaccgca ggatttccag 901 atcagggtcc aggtgatcga ggggcgccag ctgccggggg tgaacatcaa gcctgtggtc 961 aaggttaccg ctgcagggca gaccaagcgg acgcggatcc acaagggaaa cagcccactc 1021 ttcaatgaga ctcttttctt caacttgttt gactctcctg gggagctgtt tgatgagccc 1081 atctttatca cggtggtaga ctctcgttct ctcaggacag atgctctcct cggggagttc 1141 cggatggacg tgggcaccat ttacagagag ccccggcacg cctatctcag gaagtggctg 1201 ctgctctcag accctgatga cttctctgct ggggccagag gctacctgaa aacaagcctt 1261 tgtgtgctgg ggcctgggga cgaagcgcct ctggagagaa aagacccctc tgaagacaag 1321 gaggacattg aaagcaacct gctccggccc acaggcgtag ccctgcgagg agcccacttc 1381 tgcctgaagg tcttccgggc cgaggacttg ccgcagatgg acgatgccgt gatggacaac 1441 gtgaaacaga tctttggctt cgagagtaac aagaagaact tggtggaccc ctttgtggag 1501 gtcagctttg cggggaaaat gctgtgcagc aagatcttgg agaagacggc caaccctcag 1561 tggaaccaga acatcacact gcctgccatg tttccctcca tgtgcgaaaa aatgaggatt 1621 cgtatcatag actgggaccg cctgactcac aatgacatcg tggctaccac ctacctgagt 1681 atgtcgaaaa tctctgcccc tggaggagaa atagaagtgg atgactacct gggcttcctc 1741 cccacttttg ggccctgcta catcaacctc tatggcagtc ccagagagtt cacaggcttc 1801 ccagacccct acacagagct caacacaggc aagggggaag gtgtggctta tcgtggccgg 1861 cttctgctct ccctggagac caagctggtg gagcacagtg aacagaaggt ggaggacctt 1921 cctgcggatg acatcctccg ggtggagaag taccttagga ggcgcaagta ctccctgttt 1981 gcggccttct actcagccac catgctgcag gatgtggatg acgccatcca gtttgaggtc 2041 agcatcggga actacgggaa caagttcgac atgacctgcc tgccgctggc ctccaccact 2101 cagtacagcc gtgcagtctt tgacgggtgc cactactact acctaccctg gggtaacgtg 2161 aaacctgtgg tggtgctgtc atcctactgg gaggacatca gccatagaat cgagactcag 2221 aaccagctgc ttgggattgc tgaccggctg gaagctggcc tggagcaggt ccacctggcc 2281 ctgaaggcgc agtgctccac ggaggacgtg gactcgctgg tggctcagct gacggatgag 2341 ctcatcgcag gctgcagcca gcctctgggt gacatccatg agacaccctc tgccacccac 2401 ctggaccagt acctgtacca gctgcgcacc catcacctga gccaaatcac tgaggctgcc 2461 ctggccctga agctcggcca cagtgagctc cctgcagctc tggagcaggc ggaggactgg 2521 ctcctgcgtc tgcgtgccct ggcagaggag ccccagaaca gcctgccgga catcgtcatc 2581 tggatgctgc agggagacaa gcgtgtggca taccagcggg tgcccgccca ccaagtcctc 2641 ttctcccggc ggggtgccaa ctactgtggc aagaattgtg ggaagctaca gacaatcttt 2701 ctgaaatatc cgatggagaa ggtgcctggc gcccggatgc cagtgcagat acgggtcaag 2761 ctgtggtttg ggctctctgt ggatgagaag gagttcaacc agtttgctga ggggaagctg 2821 tctgtctttg ctgaaaccta tgagaacgag actaagttgg cccttgttgg gaactggggc 2881 acaacgggcc tcacctaccc caagttttct gacgtcacgg gcaagatcaa gctacccaag 2941 gacagcttcc gcccctcggc cggctggacc tgggctggag attggttcgt gtgtccggag 3001 aagactctgc tccatgacat ggacgccggt cacctgagct tcgtggaaga ggtgtttgag 3061 aaccagaccc ggcttcccgg aggccagtgg atctacatga gtgacaacta caccgatgtg 3121 aacggggaga aggtgcttcc caaggatgac attgagtgcc cactgggctg gaagtgggaa 3181 gatgaggaat ggtccacaga cctcaaccgg gctgtcgatg agcaaggctg ggagtatagc 3241 atcaccatcc ccccggagcg gaagccgaag cactgggtcc ctgctgagaa gatgtactac 3301 acacaccgac ggcggcgctg ggtgcgcctg cgcaggaggg atctcagcca aatggaagca 3361 ctgaaaaggc acaggcaggc ggaggcggag ggcgagggct gggagtacgc ctctcttttt 3421 ggctggaagt tccacctcga gtaccgcaag acagatgcct tccgccgccg ccgctggcgc 3481 cgtcgcatgg agccactgga gaagacgggg cctgcagctg tgtttgccct tgagggggcc 3541 ctgggcggcg tgatggatga caagagtgaa gattccatgt ccgtctccac cttgagcttc 3601 ggtgtgaaca gacccacgat ttcctgcata ttcgactatg ggaaccgcta ccatctacgc 3661 tgctacatgt accaggcccg ggacctggct gcgatggaca aggactcttt ttctgatccc 3721 tatgccattg tctccttcct gcaccagagc cagaagacgg tggtggtgaa gaacaccctt 3781 aaccccacct gggaccagac gctcatcttc tacgagatcg agatctttgg cgagccggcc 3841 acagttgctg agcaaccgcc cagcattgtg gtggagctgt acgaccatga cacttatggt 3901 gcagacgagt ttatgggtcg ctgcatctgt caaccgagtc tggaacggat gccacggctg 3961 gcctggttcc cactgacgag gggcagccag ccgtcggggg agctgctggc ctcttttgag 4021 ctcatccaga gagagaagcc ggccatccac catattcctg gttttgaggt gcaggagaca 4081 tcaaggatcc tggatgagtc tgaggacaca gacctgccct acccaccacc ccagagggag 4141 gccaacatct acatggttcc tcagaacatc aagccagcgc tccagcgtac cgccatcgag 4201 atactggcat ggggcctgcg gaacatgaag agttaccagc tggccaacat ctcctccccc 4261 agcctcgtgg tagagtgtgg gggccagacg gtgcagtcct gtgtcatcag gaacctccgg 4321 aagaacccca actttgacat ctgcaccctc ttcatggaag tgatgctgcc cagggaggag 4381 ctctactgcc cccccatcac cgtcaaggtc atcgataacc gccagtttgg ccgccggcct 4441 gtggtgggcc agtgtaccat ccgctccctg gagagcttcc tgtgtgaccc ctactcggcg 4501 gagagtccat ccccacaggg tggcccagac gatgtgagcc tactcagtcc tggggaagac 4561 gtgctcatcg acattgatga caaggagccc ctcatcccca tccagcttgc agacggtctg 4621 tcgagcttgg cccccactaa cacggcttct cctccatcca gtcctcatga ggaagagttc 4681 atcgattggt ggagcaaatt ctttgcctcc ataggggaga gggaaaagtg cggctcctac 4741 ctggagaagg attttgacac cttgaaggtc tatgacacac agctggagaa tgtggaggcc 4801 tttgagggcc tgtctgactt ttgtaacacc ttcaagctgt accggggcaa gacgcaggag 4861 gagacagaag atccatctgt gattggtgaa tttaagggcc tcttcaaaat ttatcccctc 4921 ccagaagacc cagccatccc catgccccca agacagttcc accagctggc cgcccaggga 4981 ccccaggagt gcttggtccg tatctacatt gtccgagcat ttggcctgca gcccaaggac 5041 cccaatggaa agtgtgatcc ttacatcaag atctccatag ggaagaaatc agtgagtgac 5101 caggataact acatcccctg cacgctggag cccgtatttg gaaagatgtt cgagctgacc 5161 tgcactctgc ctctggagaa ggacctaaag atcactctct atgactatga cctcctctcc 5221 aaggacgaaa agatcggtga gacggtcgtc gacctggaga acaggctgct gtccaagttt 5281 ggggctcgct gtggactccc acagacctac tgtgtctctg gaccgaacca gtggcgggac 5341 cagctccgcc cctcccagct cctccacctc ttctgccagc agcatagagt caaggcacct 5401 gtgtaccgga cagaccgtgt aatgtttcag gataaagaat attccattga agagatagag 5461 gctggcagga tcccaaaccc acacctgggc ccagtggagg agcgtctggc tctgcatgtg 5521 cttcagcagc agggcctggt cccggagcac gtggagtcac ggcccctcta cagccccctg 5581 cagccagaca tcgagcaggg gaagctgcag atgtgggtcg acctatttcc gaaggccctg 5641 gggcggcctg gacctccctt caacatcacc ccacggagag ccagaaggtt tttcctgcgt 5701 tgtattatct ggaataccag agatgtgatc ctggatgacc tgagcctcac gggggagaag 5761 atgagcgaca tttatgtgaa aggttggatg attggctttg aagaacacaa gcaaaagaca 5821 gacgtgcatt atcgttccct gggaggtgaa ggcaacttca actggaggtt cattttcccc 5881 ttcgactacc tgccagctga gcaagtctgt accattgcca agaaggatgc cttctggagg 5941 ctggacaaga ctgagagcaa aatcccagca cgagtggtgt tccagatctg ggacaatgac 6001 aagttctcct ttgatgattt tctgggctcc ctgcagctcg atctcaaccg catgcccaag 6061 ccagccaaga cagccaagaa gtgctccttg gaccagctgg atgatgcttt ccacccagaa 6121 tggtttgtgt ccctttttga gcagaaaaca gtgaagggct ggtggccctg tgtagcagaa 6181 gagggtgaga agaaaatact ggcgggcaag ctggaaatga ccttggagat tgtagcagag 6241 agtgagcatg aggagcggcc tgctggccag ggccgggatg agcccaacat gaaccctaag 6301 cttgaggacc caaggcgccc cgacacctcc ttcctgtggt ttacctcccc atacaagacc 6361 atgaagttca tcctgtggcg gcgtttccgg tgggccatca tcctcttcat catcctcttc 6421 atcctgctgc tgttcctggc catcttcatc tacgccttcc cgaactatgc tgccatgaag 6481 ctggtgaagc ccttcagctg aggactctcc tgccctgtag aaggggccgt ggggtcccct 6541 ccagcatggg actggcctgc ctcctccgcc cagctcggcg agctcctcca gacctcctag 6601 gcctgattgt cctgccaggg tgggcagaca gacagatgga ccggcccaca ctcccag //