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  JOURNAL   Unpublished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
//