LOCUS       ACB12761.1              2098 aa    PRT              HUM 19-AUG-2010
DEFINITION  Homo sapiens dysferlin variant V1_5 protein.
ACCESSION   EU515164-1
PROTEIN_ID  ACB12761.1
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 6594)
  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 6594)
  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  JOURNAL   Unpublished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 6594)
  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             Qualifiers
     source          /db_xref="H-InvDB:HIT000485000"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13"
     protein         /gene="DYSF"
                     /note="alternatively spliced"
BEGIN
        1 MLCCLLVRAS NLPSAKKDRR SDPVASLTFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL
       61 DQGSELHVVV KDHETMGRNR FLGEAKVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
      121 QVSYTPLPGA VPLFPPPTPL EPSPTLPDLD VVAGGGQSRA ETWSLLSDST MDTRYSGKKW
      181 PAPTDTGGEE DTEDQGLTGD EAEPFLDQSG GPGAPTTPRK LPSRPPPHYP GIKRKRSAPT
      241 SRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK PVVKVTAAGQ TKRTRIHKGN SPLFNETLFF
      301 NLFDSPGELF DEPIFITVVD SRSLRTDALL GEFRMDVGTI YREPRHAYLR KWLLLSDPDD
      361 FSAGARGYLK TSLCVLGPGD EAPLERKDPS EDKEDIESNL LRPTGVALRG AHFCLKVFRA
      421 EDLPQMDDAV MDNVKQIFGF ESNKKNLVDP FVEVSFAGKM LCSKILEKTA NPQWNQNITL
      481 PAMFPSMCEK MRIRIIDWDR LTHNDIVATT YLSMSKISAP GGEIEVDDYL GFLPTFGPCY
      541 INLYGSPREF TGFPDPYTEL NTGKGEGVAY RGRLLLSLET KLVEHSEQKV EDLPADDILR
      601 VEKYLRRRKY SLFAAFYSAT MLQDVDDAIQ FEVSIGNYGN KFDMTCLPLA STTQYSRAVF
      661 DGCHYYYLPW GNVKPVVVLS SYWEDISHRI ETQNQLLGIA DRLEAGLEQV HLALKAQCST
      721 EDVDSLVAQL TDELIAGCSQ PLGDIHETPS ATHLDQYLYQ LRTHHLSQIT EAALALKLGH
      781 SELPAALEQA EDWLLRLRAL AEEPQNSLPD IVIWMLQGDK RVAYQRVPAH QVLFSRRGAN
      841 YCGKNCGKLQ TIFLKYPMEK VPGARMPVQI RVKLWFGLSV DEKEFNQFAE GKLSVFAETY
      901 ENETKLALVG NWGTTGLTYP KFSDVTGKIK LPKDSFRPSA GWTWAGDWFV CPEKTLLHDM
      961 DAGHLSFVEE VFENQTRLPG GQWIYMSDNY TDVNGEKVLP KDDIECPLGW KWEDEEWSTD
     1021 LNRAVDEQGW EYSITIPPER KPKHWVPAEK MYYTHRRRRW VRLRRRDLSQ MEALKRHRQA
     1081 EAEGEGWEYA SLFGWKFHLE YRKTDAFRRR RWRRRMEPLE KTGPAAVFAL EGALGGVMDD
     1141 KSEDSMSVST LSFGVNRPTI SCIFDYGNRY HLRCYMYQAR DLAAMDKDSF SDPYAIVSFL
     1201 HQSQKTVVVK NTLNPTWDQT LIFYEIEIFG EPATVAEQPP SIVVELYDHD TYGADEFMGR
     1261 CICQPSLERM PRLAWFPLTR GSQPSGELLA SFELIQREKP AIHHIPGFEV QETSRILDES
     1321 EDTDLPYPPP QREANIYMVP QNIKPALQRT AIEILAWGLR NMKSYQLANI SSPSLVVECG
     1381 GQTVQSCVIR NLRKNPNFDI CTLFMEVMLP REELYCPPIT VKVIDNRQFG RRPVVGQCTI
     1441 RSLESFLCDP YSAESPSPQG GPDDVSLLSP GEDVLIDIDD KEPLIPIQEE EFIDWWSKFF
     1501 ASIGEREKCG SYLEKDFDTL KVYDTQLENV EAFEGLSDFC NTFKLYRGKT QEETEDPSVI
     1561 GEFKGLFKIY PLPEDPAIPM PPRQFHQLAA QGPQECLVRI YIVRAFGLQP KDPNGKCDPY
     1621 IKISIGKKSV SDQDNYIPCT LEPVFGKMFE LTCTLPLEKD LKITLYDYDL LSKDEKIGET
     1681 VVDLENRLLS KFGARCGLPQ TYCVSGPNQW RDQLRPSQLL HLFCQQHRVK APVYRTDRVM
     1741 FQDKEYSIEE IEAGRIPNPH LGPVEERLAL HVLQQQGLVP EHVESRPLYS PLQPDIEQGK
     1801 LQMWVDLFPK ALGRPGPPFN ITPRRARRFF LRCIIWNTRD VILDDLSLTG EKMSDIYVKG
     1861 WMIGFEEHKQ KTDVHYRSLG GEGNFNWRFI FPFDYLPAEQ VCTIAKKDAF WRLDKTESKI
     1921 PARVVFQIWD NDKFSFDDFL GSLQLDLNRM PKPAKTAKKC SLDQLDDAFH PEWFVSLFEQ
     1981 KTVKGWWPCV AEEGEKKILA GKLEMTLEIV AESEHEERPA GQGRDEPNMN PKLEDPRRPD
     2041 TSFLWFTSPY KTMKFILWRR FRWAIILFII LFILLLFLAI FIYAFPNYAA MKLVKPFS
//