LOCUS       EU515159                6697 bp    mRNA    linear   HUM 19-AUG-2010
DEFINITION  Homo sapiens dysferlin variant 6 (DYSF) mRNA, complete cds,
            alternatively spliced.
ACCESSION   EU515159
VERSION     EU515159.1
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 6697)
  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 6697)
  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  JOURNAL   Unpublished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 6697)
  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..6697
                     /db_xref="H-InvDB:HIT000484995"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13"
     gene            1..6697
                     /gene="DYSF"
     CDS             278..6541
                     /gene="DYSF"
                     /note="alternatively spliced"
                     /codon_start=1
                     /product="dysferlin variant 6"
                     /protein_id="ACB12756.1"
                     /translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
                     VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
                     APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDT
                     EDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQ
                     DFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGE
                     LFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGAR
                     GYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLP
                     QMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
                     MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEVDDYLGFLPTFGPCY
                     INLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDI
                     LRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYS
                     RAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLAL
                     KAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEA
                     ALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAH
                     QVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQF
                     AEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAG
                     DWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDI
                     ECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVR
                     LRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLE
                     KTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQ
                     ARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVA
                     EQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFEL
                     IQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAI
                     EILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLP
                     REELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLL
                     SPGEDVLIDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEEEFIDWWSKFFASIGE
                     REKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEF
                     KGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYI
                     KISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGE
                     TVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTD
                     RVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPD
                     IEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKM
                     SDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFW
                     RLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAF
                     HPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEP
                     NMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAF
                     PNYAAMKLVKPFS"
BASE COUNT         1486 a         1962 c         1931 g         1318 t
ORIGIN      
        1 gggtggaaga tgagcagaag cccctgttct cggaacgccg gctgacaagc ggggtgagcg
       61 caggcggggc ggggacccag cctagcccac tggagcagcc gggggtggcc cgttcccctt
      121 taagagcaac tgctctaagc caggagccag agattcgagc cggcctcgcc cagccagccc
      181 tctccagcga ggggacccac aagcggcgcc tcggccctcc cgacctttcc gagccctctt
      241 tgcgccctgg gcgcacgggg ccctacacgc gccaagcatg ctgagggtct tcatcctcta
      301 tgccgagaac gtccacacac ccgacaccga catcagcgat gcctactgct ccgcggtgtt
      361 tgcaggggtg aagaagagaa ccaaagtcat caagaacagc gtgaaccctg tatggaatga
      421 gggatttgaa tgggacctca agggcatccc cctggaccag ggctctgagc ttcatgtggt
      481 ggtcaaagac catgagacga tggggaggaa caggttcctg ggggaagcca aggtcccact
      541 ccgagaggtc ctcgccaccc ctagtctgtc cgccagcttc aatgcccccc tgctggacac
      601 caagaagcag cccacagggg cctcgctggt cctgcaggtg tcctacacac cgctgcctgg
      661 agctgtgccc ctgttcccgc cccctactcc tctggagccc tccccgactc tgcctgacct
      721 ggatgtagtg gcagacacag gaggagagga agacacagag gaccagggac tcactggaga
      781 tgaggcggag ccattcctgg atcaaagcgg aggcccgggg gctcccacca ccccaaggaa
      841 actaccttca cgtcctccgc cccactaccc cgggatcaaa agaaagcgaa gtgcgcctac
      901 atctagaaag ctgctgtcag acaaaccgca ggatttccag atcagggtcc aggtgatcga
      961 ggggcgccag ctgccggggg tgaacatcaa gcctgtggtc aaggttaccg ctgcagggca
     1021 gaccaagcgg acgcggatcc acaagggaaa cagcccactc ttcaatgaga ctcttttctt
     1081 caacttgttt gactctcctg gggagctgtt tgatgagccc atctttatca cggtggtaga
     1141 ctctcgttct ctcaggacag atgctctcct cggggagttc cggatggacg tgggcaccat
     1201 ttacagagag ccccggcacg cctatctcag gaagtggctg ctgctctcag accctgatga
     1261 cttctctgct ggggccagag gctacctgaa aacaagcctt tgtgtgctgg ggcctgggga
     1321 cgaagcgcct ctggagagaa aagacccctc tgaagacaag gaggacattg aaagcaacct
     1381 gctccggccc acaggcgtag ccctgcgagg agcccacttc tgcctgaagg tcttccgggc
     1441 cgaggacttg ccgcagatgg acgatgccgt gatggacaac gtgaaacaga tctttggctt
     1501 cgagagtaac aagaagaact tggtggaccc ctttgtggag gtcagctttg cggggaaaat
     1561 gctgtgcagc aagatcttgg agaagacggc caaccctcag tggaaccaga acatcacact
     1621 gcctgccatg tttccctcca tgtgcgaaaa aatgaggatt cgtatcatag actgggaccg
     1681 cctgactcac aatgacatcg tggctaccac ctacctgagt atgtcgaaaa tctctgcccc
     1741 tggaggagaa atagaagtgg atgactacct gggcttcctc cccacttttg ggccctgcta
     1801 catcaacctc tatggcagtc ccagagagtt cacaggcttc ccagacccct acacagagct
     1861 caacacaggc aagggggaag gtgtggctta tcgtggccgg cttctgctct ccctggagac
     1921 caagctggtg gagcacagtg aacagaaggt ggaggacctt cctgcggatg acatcctccg
     1981 ggtggagaag taccttagga ggcgcaagta ctccctgttt gcggccttct actcagccac
     2041 catgctgcag gatgtggatg atgccatcca gtttgaggtc agcatcggga actacgggaa
     2101 caagttcgac atgacctgcc tgccgctggc ctccaccact cagtacagcc gtgcagtctt
     2161 tgacgggtgc cactactact acctaccctg gggtaacgtg aaacctgtgg tggtgctgtc
     2221 atcctactgg gaggacatca gccatagaat cgagactcag aaccagctgc ttgggattgc
     2281 tgaccggctg gaagctggcc tggagcaggt ccacctggcc ctgaaggcgc agtgctccac
     2341 ggaggacgtg gactcgctgg tggctcagct gacggatgag ctcatcgcag gctgcagcca
     2401 gcctctgggt gacatccatg agacaccctc tgccacccac ctggaccagt acctgtacca
     2461 gctgcgcacc catcacctga gccaaatcac tgaggctgcc ctggccctga agctcggcca
     2521 cagtgagctc cctgcagctc tggagcaggc ggaggactgg ctcctgcgtc tgcgtgccct
     2581 ggcagaggag ccccagaaca gcctgccgga catcgtcatc tggatgctgc agggagacaa
     2641 gcgtgtggca taccagcggg tgcccgccca ccaagtcctc ttctcccggc ggggtgccaa
     2701 ctactgtggc aagaattgtg ggaagctaca gacaatcttt ctgaaatatc cgatggagaa
     2761 ggtgcctggc gcccggatgc cagtgcagat acgggtcaag ctgtggtttg ggctctctgt
     2821 ggatgagaag gagttcaacc agtttgctga ggggaagctg tctgtctttg ctgaaaccta
     2881 tgagaacgag actaagttgg cccttgttgg gaactggggc acaacgggcc tcacctaccc
     2941 caagttttct gacgtcacgg gcaagatcaa gctacccaag gacagcttcc gcccctcggc
     3001 cggctggacc tgggctggag attggttcgt gtgtccggag aagactctgc tccatgacat
     3061 ggacgccggt cacctgagct tcgtggaaga ggtgtttgag aaccagaccc ggcttcccgg
     3121 aggccagtgg atctacatga gtgacaacta caccgatgtg aacggggaga aggtgcttcc
     3181 caaggatgac attgagtgcc cactgggctg gaagtgggaa gatgaggaat ggtccacaga
     3241 cctcaaccgg gctgtcgatg agcaaggctg ggagtatagc atcaccatcc ccccggagcg
     3301 gaagccgaag cactgggtcc ctgctgagaa gatgtactac acacaccgac ggcggcgctg
     3361 ggtgcgcctg cgcaggaggg atctcagcca aatggaagca ctgaaaaggc acaggcaggc
     3421 ggaggcggag ggcgagggct gggagtacgc ctctcttttt ggctggaagt tccacctcga
     3481 gtaccgcaag acagatgcct tccgccgccg ccgctggcgc cgtcgcatgg agccactgga
     3541 gaagacgggg cctgcagctg tgtttgccct tgagggggcc ctgggcggcg tgatggatga
     3601 caagagtgaa gattccatgt ccgtctccac cttgagcttc ggtgtgaaca gacccacgat
     3661 ttcctgcata ttcgactatg ggaaccgcta ccatctacgc tgctacatgt accaggcccg
     3721 ggacctggct gcgatggaca aggactcttt ttctgatccc tatgccatcg tctccttcct
     3781 gcaccagagc cagaagacgg tggtggtgaa gaacaccctt aaccccacct gggaccagac
     3841 gctcatcttc tacgagatcg agatctttgg cgagccggcc acagttgctg agcaaccgcc
     3901 cagcattgtg gtggagctgt acgaccatga cacttatggt gcagacgagt ttatgggtcg
     3961 ctgcatctgt caaccgagtc tggaacggat gccacggctg gcctggttcc cactgacgag
     4021 gggcagccag ccgtcggggg agctgctggc ctcttttgag ctcatccaga gagagaagcc
     4081 ggccatccac catattcctg gttttgaggt gcaggagaca tcaaggatcc tggatgagtc
     4141 tgaggacaca gacctgccct acccaccacc ccagagggag gccaacatct acatggttcc
     4201 tcagaacatc aagccagcgc tccagcgtac cgccatcgag atcctggcat ggggcctgcg
     4261 gaacatgaag agttaccagc tggccaacat ctcctccccc agcctcgtgg tagagtgtgg
     4321 gggccagacg gtgcagtcct gtgtcatcag gaacctccgg aagaacccca actttgacat
     4381 ctgcaccctc ttcatggaag tgatgctgcc cagggaggag ctctactgcc cccccatcac
     4441 cgtcaaggtc atcgataacc gccagtttgg ccgccggcct gtggtgggcc agtgtaccat
     4501 ccgctccctg gagagcttcc tgtgtgaccc ctactcggcg gagagtccat ccccacaggg
     4561 tggcccagac gatgtgagcc tactcagtcc tggggaagac gtgctcatcg acattgatga
     4621 caaggagccc ctcatcccca tccagcttgc agacggtctg tcgagcttgg cccccactaa
     4681 cacggcttct cctccatcca gtcctcatga ggaagagttc atcgattggt ggagcaaatt
     4741 ctttgcctcc ataggggaga gggaaaagtg cggctcctac ctggagaagg attttgacac
     4801 cctgaaggtc tatgacacac agctggagaa tgtggaggcc tttgagggcc tgtctgactt
     4861 ttgtaacacc ttcaagctgt accggggcaa gacgcaggag gagacagaag atccatctgt
     4921 gattggtgaa tttaagggcc tcttcaaaat ttatcccctc ccagaagacc cagccatccc
     4981 catgccccca agacagttcc accagctggc cgcccaggga ccccaggagt gcttggtccg
     5041 tatctacatt gtccgagcat ttggcctgca gcccaaggac cccaatggaa agtgtgatcc
     5101 ttacatcaag atctccatag ggaagaaatc agtgagtgac caggataact acatcccctg
     5161 cacgctggag cccgtatttg gaaagatgtt cgagctgacc tgcactctgc ctctggagaa
     5221 ggacctaaag atcactctct atgactatga cctcctctcc aaggacgaaa agatcggtga
     5281 gacggtcgtc gacctggaga acaggctgct gtccaagttt ggggctcgct gtggactccc
     5341 acagacctac tgtgtctctg gaccgaacca gtggcgggac cagctccgcc cctcccagct
     5401 cctccacctc ttctgccagc agcatagagt caaggcacct gtgtaccgga cagaccgtgt
     5461 aatgtttcag gataaagaat attccattga agagatagag gctggcagga tcccaaaccc
     5521 acacctgggc ccagtggagg agcgtctggc tctgcatgtg cttcagcagc agggcctggt
     5581 cccggagcac gtggagtcac ggcccctcta cagccccctg cagccagaca tcgagcaggg
     5641 gaagctgcag atgtgggtcg acctatttcc gaaggccctg gggcggcctg gacctccctt
     5701 caacatcacc ccacggagag ccagaaggtt tttcctgcgt tgtattatct ggaataccag
     5761 agatgtgatc ctggatgacc tgagcctcac gggggagaag atgagcgaca tttatgtgaa
     5821 aggttggatg attggctttg aagaacacaa gcaaaagaca gacgtgcatt atcgttccct
     5881 gggaggtgaa ggcaacttca actggaggtt cattttcccc ttcgactacc tgccagctga
     5941 gcaagtctgt accattgcca agaaggatgc cttctggagg ctggacaaga ctgagagcaa
     6001 aatcccagca cgagtggtgt tccagatctg ggacaatgac aagttctcct ttgatgattt
     6061 tctgggctcc ctgcagctcg atctcaaccg catgcccaag ccagccaaga cagccaagaa
     6121 gtgctccttg gaccagctgg atgatgcttt ccacccagaa tggtttgtgt ccctttttga
     6181 gcagaaaaca gtgaagggct ggtggccctg tgtagcagaa gagggtgaga agaaaatact
     6241 ggcgggcaag ctggaaatga ccttggagat tgtagcagag agtgagcatg aggagcggcc
     6301 tgctggccag ggccgggatg agcccaacat gaaccctaag cttgaggacc caaggcgccc
     6361 cgacacctcc ttcctgtggt ttacctcccc atacaagacc atgaagttca tcctgtggcg
     6421 gcgtttccgg tgggccatca tcctcttcat catcctcttc atcctgctgc tgttcctggc
     6481 catcttcatc tacgccttcc cgaactatgc tgccatgaag ctggtgaagc ccttcagctg
     6541 aggactctcc tgccctgtag aaggggccgt ggggtcccct ccagcatggg actggcctgc
     6601 ctcctccgcc cagctcggcg agctcctcca gacctcctag gcctgattgt cctgccaggg
     6661 tgggcagaca gacagatgga ccggcccaca ctcccag
//