LOCUS ACB12756.1 2087 aa PRT HUM 19-AUG-2010 DEFINITION Homo sapiens dysferlin variant 6 protein. ACCESSION EU515159-1 PROTEIN_ID ACB12756.1 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 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dysferlin variants from alternative splicing: implications for dysferlin mutational screening and isoforms JOURNAL Unpublished REFERENCE 3 (bases 1 to 6697) AUTHORS Pramono,Z.A.D., Tan,C.L., See,J.S.L., Lim,C.C., Lai,P.S. and Yee,W.C. TITLE Direct Submission JOURNAL Submitted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 Qualifiers source /db_xref="H-InvDB:HIT000484995" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13" protein /gene="DYSF" /note="alternatively spliced" BEGIN 1 MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD 61 QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSAS FNAPLLDTKK QPTGASLVLQ 121 VSYTPLPGAV PLFPPPTPLE PSPTLPDLDV VADTGGEEDT EDQGLTGDEA EPFLDQSGGP 181 GAPTTPRKLP SRPPPHYPGI KRKRSAPTSR KLLSDKPQDF QIRVQVIEGR QLPGVNIKPV 241 VKVTAAGQTK RTRIHKGNSP LFNETLFFNL FDSPGELFDE PIFITVVDSR SLRTDALLGE 301 FRMDVGTIYR EPRHAYLRKW LLLSDPDDFS AGARGYLKTS LCVLGPGDEA PLERKDPSED 361 KEDIESNLLR PTGVALRGAH FCLKVFRAED LPQMDDAVMD NVKQIFGFES NKKNLVDPFV 421 EVSFAGKMLC SKILEKTANP QWNQNITLPA MFPSMCEKMR IRIIDWDRLT HNDIVATTYL 481 SMSKISAPGG EIEVDDYLGF LPTFGPCYIN LYGSPREFTG FPDPYTELNT GKGEGVAYRG 541 RLLLSLETKL VEHSEQKVED LPADDILRVE KYLRRRKYSL FAAFYSATML QDVDDAIQFE 601 VSIGNYGNKF DMTCLPLAST TQYSRAVFDG CHYYYLPWGN VKPVVVLSSY WEDISHRIET 661 QNQLLGIADR LEAGLEQVHL ALKAQCSTED VDSLVAQLTD ELIAGCSQPL GDIHETPSAT 721 HLDQYLYQLR THHLSQITEA ALALKLGHSE LPAALEQAED WLLRLRALAE EPQNSLPDIV 781 IWMLQGDKRV AYQRVPAHQV LFSRRGANYC GKNCGKLQTI FLKYPMEKVP GARMPVQIRV 841 KLWFGLSVDE KEFNQFAEGK LSVFAETYEN ETKLALVGNW GTTGLTYPKF SDVTGKIKLP 901 KDSFRPSAGW TWAGDWFVCP EKTLLHDMDA GHLSFVEEVF ENQTRLPGGQ WIYMSDNYTD 961 VNGEKVLPKD DIECPLGWKW EDEEWSTDLN RAVDEQGWEY SITIPPERKP KHWVPAEKMY 1021 YTHRRRRWVR LRRRDLSQME ALKRHRQAEA EGEGWEYASL FGWKFHLEYR KTDAFRRRRW 1081 RRRMEPLEKT GPAAVFALEG ALGGVMDDKS EDSMSVSTLS FGVNRPTISC IFDYGNRYHL 1141 RCYMYQARDL AAMDKDSFSD PYAIVSFLHQ SQKTVVVKNT LNPTWDQTLI FYEIEIFGEP 1201 ATVAEQPPSI VVELYDHDTY GADEFMGRCI CQPSLERMPR LAWFPLTRGS QPSGELLASF 1261 ELIQREKPAI HHIPGFEVQE TSRILDESED TDLPYPPPQR EANIYMVPQN IKPALQRTAI 1321 EILAWGLRNM KSYQLANISS PSLVVECGGQ TVQSCVIRNL RKNPNFDICT LFMEVMLPRE 1381 ELYCPPITVK VIDNRQFGRR PVVGQCTIRS LESFLCDPYS AESPSPQGGP DDVSLLSPGE 1441 DVLIDIDDKE PLIPIQLADG LSSLAPTNTA SPPSSPHEEE FIDWWSKFFA SIGEREKCGS 1501 YLEKDFDTLK VYDTQLENVE AFEGLSDFCN TFKLYRGKTQ EETEDPSVIG EFKGLFKIYP 1561 LPEDPAIPMP PRQFHQLAAQ GPQECLVRIY IVRAFGLQPK DPNGKCDPYI KISIGKKSVS 1621 DQDNYIPCTL EPVFGKMFEL TCTLPLEKDL KITLYDYDLL SKDEKIGETV VDLENRLLSK 1681 FGARCGLPQT YCVSGPNQWR DQLRPSQLLH LFCQQHRVKA PVYRTDRVMF QDKEYSIEEI 1741 EAGRIPNPHL GPVEERLALH VLQQQGLVPE HVESRPLYSP LQPDIEQGKL QMWVDLFPKA 1801 LGRPGPPFNI TPRRARRFFL RCIIWNTRDV ILDDLSLTGE KMSDIYVKGW MIGFEEHKQK 1861 TDVHYRSLGG EGNFNWRFIF PFDYLPAEQV CTIAKKDAFW RLDKTESKIP ARVVFQIWDN 1921 DKFSFDDFLG SLQLDLNRMP KPAKTAKKCS LDQLDDAFHP EWFVSLFEQK TVKGWWPCVA 1981 EEGEKKILAG KLEMTLEIVA ESEHEERPAG QGRDEPNMNP KLEDPRRPDT SFLWFTSPYK 2041 TMKFILWRRF RWAIILFIIL FILLLFLAIF IYAFPNYAAM KLVKPFS //