LOCUS ACB12759.1 2067 aa PRT HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant V1_3 protein.
ACCESSION EU515162-1
PROTEIN_ID ACB12759.1
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 6501)
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 6501)
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JOURNAL Unpublished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 6501)
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:HIT000484998"
/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 EPLIPIQEEE FIDWWSKFFA SIGEREKCGS YLEKDFDTLK VYDTQLENVE
1501 AFEGLSDFCN TFKLYRGKTQ EETEDPSVIG EFKGLFKIYP LPEDPAIPMP PRQFHQLAAQ
1561 GPQECLVRIY IVRAFGLQPK DPNGKCDPYI KISIGKKSVS DQDNYIPCTL EPVFGKMFEL
1621 TCTLPLEKDL KITLYDYDLL SKDEKIGETV VDLENRLLSK FGARCGLPQT YCVSGPNQWR
1681 DQLRPSQLLH LFCQQHRVKA PVYRTDRVMF QDKEYSIEEI EAGRIPNPHL GPVEERLALH
1741 VLQQQGLVPE HVESRPLYSP LQPDIEQGKL QMWVDLFPKA LGRPGPPFNI TPRRARRFFL
1801 RCIIWNTRDV ILDDLSLTGE KMSDIYVKGW MIGFEEHKQK TDVHYRSLGG EGNFNWRFIF
1861 PFDYLPAEQV CTIAKKDAFW RLDKTESKIP ARVVFQIWDN DKFSFDDFLG SLQLDLNRMP
1921 KPAKTAKKCS LDQLDDAFHP EWFVSLFEQK TVKGWWPCVA EEGEKKILAG KLEMTLEIVA
1981 ESEHEERPAG QGRDEPNMNP KLEDPRRPDT SFLWFTSPYK TMKFILWRRF RWAIILFIIL
2041 FILLLFLAIF IYAFPNYAAM KLVKPFS
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