LOCUS       ACB12762.1              2088 aa    PRT              HUM 19-AUG-2010
DEFINITION  Homo sapiens dysferlin variant V1_6 protein.
ACCESSION   EU515165-1
PROTEIN_ID  ACB12762.1
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 6564)
  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 6564)
  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  JOURNAL   Unpublished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 6564)
  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:HIT000485001"
                     /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 VVADTGGEED TEDQGLTGDE AEPFLDQSGG
      181 PGAPTTPRKL PSRPPPHYPG IKRKRSAPTS RKLLSDKPQD FQIRVQVIEG RQLPGVNIKP
      241 VVKVTAAGQT KRTRIHKGNS PLFNETLFFN LFDSPGELFD EPIFITVVDS RSLRTDALLG
      301 EFRMDVGTIY REPRHAYLRK WLLLSDPDDF SAGARGYLKT SLCVLGPGDE APLERKDPSE
      361 DKEDIESNLL RPTGVALRGA HFCLKVFRAE DLPQMDDAVM DNVKQIFGFE SNKKNLVDPF
      421 VEVSFAGKML CSKILEKTAN PQWNQNITLP AMFPSMCEKM RIRIIDWDRL THNDIVATTY
      481 LSMSKISAPG GEIEVDDYLG FLPTFGPCYI NLYGSPREFT GFPDPYTELN TGKGEGVAYR
      541 GRLLLSLETK LVEHSEQKVE DLPADDILRV EKYLRRRKYS LFAAFYSATM LQDVDDAIQF
      601 EVSIGNYGNK FDMTCLPLAS TTQYSRAVFD GCHYYYLPWG NVKPVVVLSS YWEDISHRIE
      661 TQNQLLGIAD RLEAGLEQVH LALKAQCSTE DVDSLVAQLT DELIAGCSQP LGDIHETPSA
      721 THLDQYLYQL RTHHLSQITE AALALKLGHS ELPAALEQAE DWLLRLRALA EEPQNSLPDI
      781 VIWMLQGDKR VAYQRVPAHQ VLFSRRGANY CGKNCGKLQT IFLKYPMEKV PGARMPVQIR
      841 VKLWFGLSVD EKEFNQFAEG KLSVFAETYE NETKLALVGN WGTTGLTYPK FSDVTGKIKL
      901 PKDSFRPSAG WTWAGDWFVC PEKTLLHDMD AGHLSFVEEV FENQTRLPGG QWIYMSDNYT
      961 DVNGEKVLPK DDIECPLGWK WEDEEWSTDL NRAVDEQGWE YSITIPPERK PKHWVPAEKM
     1021 YYTHRRRRWV RLRRRDLSQM EALKRHRQAE AEGEGWEYAS LFGWKFHLEY RKTDAFRRRR
     1081 WRRRMEPLEK TGPAAVFALE GALGGVMDDK SEDSMSVSTL SFGVNRPTIS CIFDYGNRYH
     1141 LRCYMYQARD LAAMDKDSFS DPYAIVSFLH QSQKTVVVKN TLNPTWDQTL IFYEIEIFGE
     1201 PATVAEQPPS IVVELYDHDT YGADEFMGRC ICQPSLERMP RLAWFPLTRG SQPSGELLAS
     1261 FELIQREKPA IHHIPGFEVQ ETSRILDESE DTDLPYPPPQ REANIYMVPQ NIKPALQRTA
     1321 IEILAWGLRN MKSYQLANIS SPSLVVECGG QTVQSCVIRN LRKNPNFDIC TLFMEVMLPR
     1381 EELYCPPITV KVIDNRQFGR RPVVGQCTIR SLESFLCDPY SAESPSPQGG PDDVSLLSPG
     1441 EDVLIDIDDK EPLIPIQLAD GLSSLAPTNT ASPPSSPHEE EFIDWWSKFF ASIGEREKCG
     1501 SYLEKDFDTL KVYDTQLENV EAFEGLSDFC NTFKLYRGKT QEETEDPSVI GEFKGLFKIY
     1561 PLPEDPAIPM PPRQFHQLAA QGPQECLVRI YIVRAFGLQP KDPNGKCDPY IKISIGKKSV
     1621 SDQDNYIPCT LEPVFGKMFE LTCTLPLEKD LKITLYDYDL LSKDEKIGET VVDLENRLLS
     1681 KFGARCGLPQ TYCVSGPNQW RDQLRPSQLL HLFCQQHRVK APVYRTDRVM FQDKEYSIEE
     1741 IEAGRIPNPH LGPVEERLAL HVLQQQGLVP EHVESRPLYS PLQPDIEQGK LQMWVDLFPK
     1801 ALGRPGPPFN ITPRRARRFF LRCIIWNTRD VILDDLSLTG EKMSDIYVKG WMIGFEEHKQ
     1861 KTDVHYRSLG GEGNFNWRFI FPFDYLPAEQ VCTIAKKDAF WRLDKTESKI PARVVFQIWD
     1921 NDKFSFDDFL GSLQLDLNRM PKPAKTAKKC SLDQLDDAFH PEWFVSLFEQ KTVKGWWPCV
     1981 AEEGEKKILA GKLEMTLEIV AESEHEERPA GQGRDEPNMN PKLEDPRRPD TSFLWFTSPY
     2041 KTMKFILWRR FRWAIILFII LFILLLFLAI FIYAFPNYAA MKLVKPFS
//