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  JOURNAL   Unpublished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
//