LOCUS ACB12754.1 2101 aa PRT HUM 19-AUG-2010 DEFINITION Homo sapiens dysferlin variant 4 protein. ACCESSION EU515157-1 PROTEIN_ID ACB12754.1 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 6739) 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 6739) 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dysferlin variants from alternative splicing: implications for dysferlin mutational screening and isoforms JOURNAL Unpublished REFERENCE 3 (bases 1 to 6739) AUTHORS Pramono,Z.A.D., Tan,C.L., See,J.S.L., Lim,C.C., Lai,P.S. and Yee,W.C. TITLE Direct Submission JOURNAL Submitted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:HIT000484993" /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 EIEEEPAGAV KPSKASDLDD YLGFLPTFGP CYINLYGSPR EFTGFPDPYT 541 ELNTGKGEGV AYRGRLLLSL ETKLVEHSEQ KVEDLPADDI LRVEKYLRRR KYSLFAAFYS 601 ATMLQDVDDA IQFEVSIGNY GNKFDMTCLP LASTTQYSRA VFDGCHYYYL PWGNVKPVVV 661 LSSYWEDISH RIETQNQLLG IADRLEAGLE QVHLALKAQC STEDVDSLVA QLTDELIAGC 721 SQPLGDIHET PSATHLDQYL YQLRTHHLSQ ITEAALALKL GHSELPAALE QAEDWLLRLR 781 ALAEEPQNSL PDIVIWMLQG DKRVAYQRVP AHQVLFSRRG ANYCGKNCGK LQTIFLKYPM 841 EKVPGARMPV QIRVKLWFGL SVDEKEFNQF AEGKLSVFAE TYENETKLAL VGNWGTTGLT 901 YPKFSDVTGK IKLPKDSFRP SAGWTWAGDW FVCPEKTLLH DMDAGHLSFV EEVFENQTRL 961 PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEEWS TDLNRAVDEQ GWEYSITIPP 1021 ERKPKHWVPA EKMYYTHRRR RWVRLRRRDL SQMEALKRHR QAEAEGEGWE YASLFGWKFH 1081 LEYRKTDAFR RRRWRRRMEP LEKTGPAAVF ALEGALGGVM DDKSEDSMSV STLSFGVNRP 1141 TISCIFDYGN RYHLRCYMYQ ARDLAAMDKD SFSDPYAIVS FLHQSQKTVV VKNTLNPTWD 1201 QTLIFYEIEI FGEPATVAEQ PPSIVVELYD HDTYGADEFM GRCICQPSLE RMPRLAWFPL 1261 TRGSQPSGEL LASFELIQRE KPAIHHIPGF EVQETSRILD ESEDTDLPYP PPQREANIYM 1321 VPQNIKPALQ RTAIEILAWG LRNMKSYQLA NISSPSLVVE CGGQTVQSCV IRNLRKNPNF 1381 DICTLFMEVM LPREELYCPP ITVKVIDNRQ FGRRPVVGQC TIRSLESFLC DPYSAESPSP 1441 QGGPDDVSLL SPGEDVLIDI DDKEPLIPIQ LADGLSSLAP TNTASPPSSP HEEEFIDWWS 1501 KFFASIGERE KCGSYLEKDF DTLKVYDTQL ENVEAFEGLS DFCNTFKLYR GKTQEETEDP 1561 SVIGEFKGLF KIYPLPEDPA IPMPPRQFHQ LAAQGPQECL VRIYIVRAFG LQPKDPNGKC 1621 DPYIKISIGK KSVSDQDNYI PCTLEPVFGK MFELTCTLPL EKDLKITLYD YDLLSKDEKI 1681 GETVVDLENR LLSKFGARCG LPQTYCVSGP NQWRDQLRPS QLLHLFCQQH RVKAPVYRTD 1741 RVMFQDKEYS IEEIEAGRIP NPHLGPVEER LALHVLQQQG LVPEHVESRP LYSPLQPDIE 1801 QGKLQMWVDL FPKALGRPGP PFNITPRRAR RFFLRCIIWN TRDVILDDLS LTGEKMSDIY 1861 VKGWMIGFEE HKQKTDVHYR SLGGEGNFNW RFIFPFDYLP AEQVCTIAKK DAFWRLDKTE 1921 SKIPARVVFQ IWDNDKFSFD DFLGSLQLDL NRMPKPAKTA KKCSLDQLDD AFHPEWFVSL 1981 FEQKTVKGWW PCVAEEGEKK ILAGKLEMTL EIVAESEHEE RPAGQGRDEP NMNPKLEDPR 2041 RPDTSFLWFT SPYKTMKFIL WRRFRWAIIL FIILFILLLF LAIFIYAFPN YAAMKLVKPF 2101 S //