LOCUS EU515161 6636 bp mRNA linear HUM 19-AUG-2010 DEFINITION Homo sapiens dysferlin variant V1_2 (DYSF) mRNA, complete cds, alternatively spliced. ACCESSION EU515161 VERSION EU515161.1 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 6636) 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 6636) 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dysferlin variants from alternative splicing: implications for dysferlin mutational screening and isoforms JOURNAL Unpublished REFERENCE 3 (bases 1 to 6636) AUTHORS Pramono,Z.A.D., Tan,C.L., See,J.S.L., Lim,C.C., Lai,P.S. and Yee,W.C. TITLE Direct Submission JOURNAL Submitted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..6636 /db_xref="H-InvDB:HIT000484997" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13" gene 1..6636 /gene="DYSF" CDS 142..6480 /gene="DYSF" /note="alternatively spliced" /codon_start=1 /product="dysferlin variant V1_2" /protein_id="ACB12758.1" /translation="MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVN PVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASF NAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRA ETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTP RKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVT AAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFR MDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDP FVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVA TTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTG FPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKY SLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYL PWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSL VAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELP AALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYC GKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETY ENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLH DMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEE WSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEAL KRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEG ALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSF SDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYD HDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIP GFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKS YQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVK VIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDD KEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSD FCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQEC LVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCT LPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRD QLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLAL HVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARR FFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFN WRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQ LDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGK LEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRR FRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS" BASE COUNT 1469 a 1926 c 1935 g 1306 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 atagaagagg agcctgcagg tgctgtcaag 1741 ccttcgaaag cctcagactt ggatgactac ctgggcttcc tccccacttt tgggccctgc 1801 tacatcaacc tctatggcag tcccagagag ttcacaggct tcccagaccc ctacacagag 1861 ctcaacacag gcaaggggga aggtgtggct tatcgtggcc ggcttctgct ctccctggag 1921 accaagctgg tggagcacag tgaacagaag gtggaggacc ttcctgcgga tgacatcctc 1981 cgggtggaga agtaccttag gaggcgcaag tactccctgt ttgcggcctt ctactcagcc 2041 accatgctgc aggatgtgga tgacgccatc cagtttgagg tcagcatcgg gaactacggg 2101 aacaagttcg acatgacctg cctgccgctg gcctccacca ctcagtacag ccgtgcagtc 2161 tttgacgggt gccactacta ctacctaccc tggggtaacg tgaaacctgt ggtggtgctg 2221 tcatcctact gggaggacat cagccataga atcgagactc agaaccagct gcttgggatt 2281 gctgaccggc tggaagctgg cctggagcag gtccacctgg ccctgaaggc gcagtgctcc 2341 acggaggacg tggactcgct ggtggctcag ctgacggatg agctcatcgc aggctgcagc 2401 cagcctctgg gtgacatcca tgagacaccc tctgccaccc acctggacca gtacctgtac 2461 cagctgcgca cccatcacct gagccaaatc actgaggctg ccctggccct gaagctcggc 2521 cacagtgagc tccctgcagc tctggagcag gcggaggact ggctcctgcg tctgcgtgcc 2581 ctggcagagg agccccagaa cagcctgccg gacatcgtca tctggatgct gcagggagac 2641 aagcgtgtgg cataccagcg ggtgcccgcc caccaagtcc tcttctcccg gcggggtgcc 2701 aactactgtg gcaagaattg tgggaagcta cagacaatct ttctgaaata tccgatggag 2761 aaggtgcctg gcgcccggat gccagtgcag atacgggtca agctgtggtt tgggctctct 2821 gtggatgaga aggagttcaa ccagtttgct gaggggaagc tgtctgtctt tgctgaaacc 2881 tatgagaacg agactaagtt ggcccttgtt gggaactggg gcacaacggg cctcacctac 2941 cccaagtttt ctgacgtcac gggcaagatc aagctaccca aggacagctt ccgcccctcg 3001 gccggctgga cctgggctgg agattggttc gtgtgtccgg agaagactct gctccatgac 3061 atggacgccg gtcacctgag cttcgtggaa gaggtgtttg agaaccagac ccggcttccc 3121 ggaggccagt ggatctacat gagtgacaac tacaccgatg tgaacgggga gaaggtgctt 3181 cccaaggatg acattgagtg cccactgggc tggaagtggg aagatgagga atggtccaca 3241 gacctcaacc gggctgtcga tgagcaaggc tgggagtata gcatcaccat ccccccggag 3301 cggaagccga agcactgggt ccctgctgag aagatgtact acacacaccg acggcggcgc 3361 tgggtgcgcc tgcgcaggag ggatctcagc caaatggaag cactgaaaag gcacaggcag 3421 gcggaggcgg agggcgaggg ctgggagtac gcctctcttt ttggctggaa gttccacctc 3481 gagtaccgca agacagatgc cttccgccgc cgccgctggc gccgtcgcat ggagccactg 3541 gagaagacgg ggcctgcagc tgtgtttgcc cttgaggggg ccctgggcgg cgtgatggat 3601 gacaagagtg aagattccat gtccgtctcc accttgagct tcggtgtgaa cagacccacg 3661 atttcctgca tattcgacta tgggaaccgc taccatctac gctgctacat gtaccaggcc 3721 cgggacctgg ctgcgatgga caaggactct ttttctgatc cctatgccat tgtctccttc 3781 ctgcaccaga gccagaagac ggtggtggtg aagaacaccc ttaaccccac ctgggaccag 3841 acgctcatct tctacgagat cgagatcttt ggcgagccgg ccacagttgc tgagcaaccg 3901 cccagcattg tggtggagct gtacgaccat gacacttatg gtgcagacga gtttatgggt 3961 cgctgcatct gtcaaccgag tctggaacgg atgccacggc tggcctggtt cccactgacg 4021 aggggcagcc agccgtcggg ggagctgctg gcctcttttg agctcatcca gagagagaag 4081 ccggccatcc accatattcc tggttttgag gtgcaggaga catcaaggat cctggatgag 4141 tctgaggaca cagacctgcc ctacccacca ccccagaggg aggccaacat ctacatggtt 4201 cctcagaaca tcaagccagc gctccagcgt accgccatcg agatactggc atggggcctg 4261 cggaacatga agagttacca gctggccaac atctcctccc ccagcctcgt ggtagagtgt 4321 gggggccaga cggtgcagtc ctgtgtcatc aggaacctcc ggaagaaccc caactttgac 4381 atctgcaccc tcttcatgga agtgatgctg cccagggagg agctctactg cccccccatc 4441 accgtcaagg tcatcgataa ccgccagttt ggccgccggc ctgtggtggg ccagtgtacc 4501 atccgctccc tggagagctt cctgtgtgac ccctactcgg cggagagtcc atccccacag 4561 ggtggcccag acgatgtgag cctactcagt cctggggaag acgtgctcat cgacattgat 4621 gacaaggagc ccctcatccc catccaggag gaagagttca tcgattggtg gagcaaattc 4681 tttgcctcca taggggagag ggaaaagtgc ggctcctacc tggagaagga ttttgacacc 4741 ttgaaggtct atgacacaca gctggagaat gtggaggcct ttgagggcct gtctgacttt 4801 tgtaacacct tcaagctgta ccggggcaag acgcaggagg agacagaaga tccatctgtg 4861 attggtgaat ttaagggcct cttcaaaatt tatcccctcc cagaagaccc agccatcccc 4921 atgcccccaa gacagttcca ccagctggcc gcccagggac cccaggagtg cttggtccgt 4981 atctacattg tccgagcatt tggcctgcag cccaaggacc ccaatggaaa gtgtgatcct 5041 tacatcaaga tctccatagg gaagaaatca gtgagtgacc aggataacta catcccctgc 5101 acgctggagc ccgtatttgg aaagatgttc gagctgacct gcactctgcc tctggagaag 5161 gacctaaaga tcactctcta tgactatgac ctcctctcca aggacgaaaa gatcggtgag 5221 acggtcgtcg acctggagaa caggctgctg tccaagtttg gggctcgctg tggactccca 5281 cagacctact gtgtctctgg accgaaccag tggcgggacc agctccgccc ctcccagctc 5341 ctccacctct tctgccagca gcatagagtc aaggcacctg tgtaccggac agaccgtgta 5401 atgtttcagg ataaagaata ttccattgaa gagatagagg ctggcaggat cccaaaccca 5461 cacctgggcc cagtggagga gcgtctggct ctgcatgtgc ttcagcagca gggcctggtc 5521 ccggagcacg tggagtcacg gcccctctac agccccctgc agccagacat cgagcagggg 5581 aagctgcaga tgtgggtcga cctatttccg aaggccctgg ggcggcctgg acctcccttc 5641 aacatcaccc cacggagagc cagaaggttt ttcctgcgtt gtattatctg gaataccaga 5701 gatgtgatcc tggatgacct gagcctcacg ggggagaaga tgagcgacat ttatgtgaaa 5761 ggttggatga ttggctttga agaacacaag caaaagacag acgtgcatta tcgttccctg 5821 ggaggtgaag gcaacttcaa ctggaggttc attttcccct tcgactacct gccagctgag 5881 caagtctgta ccattgccaa gaaggatgcc ttctggaggc tggacaagac tgagagcaaa 5941 atcccagcac gagtggtgtt ccagatctgg gacaatgaca agttctcctt tgatgatttt 6001 ctgggctccc tgcagctcga tctcaaccgc atgcccaagc cagccaagac agccaagaag 6061 tgctccttgg accagctgga tgatgctttc cacccagaat ggtttgtgtc cctttttgag 6121 cagaaaacag tgaagggctg gtggccctgt gtagcagaag agggtgagaa gaaaatactg 6181 gcgggcaagc tggaaatgac cttggagatt gtagcagaga gtgagcatga ggagcggcct 6241 gctggccagg gccgggatga gcccaacatg aaccctaagc ttgaggaccc aaggcgcccc 6301 gacacctcct tcctgtggtt tacctcccca tacaagacca tgaagttcat cctgtggcgg 6361 cgtttccggt gggccatcat cctcttcatc atcctcttca tcctgctgct gttcctggcc 6421 atcttcatct acgccttccc gaactatgct gccatgaagc tggtgaagcc cttcagctga 6481 ggactctcct gccctgtaga aggggccgtg gggtcccctc cagcatggga ctggcctgcc 6541 tcctccgccc agctcggcga gctcctccag acctcctagg cctgattgtc ctgccagggt 6601 gggcagacag acagatggac cggcccacac tcccag //