LOCUS ACB12755.1 2097 aa PRT HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant 5 protein.
ACCESSION EU515158-1
PROTEIN_ID ACB12755.1
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 6727)
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 6727)
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JOURNAL Unpublished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 6727)
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:HIT000484994"
/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 VAGGGQSRAE TWSLLSDSTM DTRYSGKKWP
181 APTDTGGEED TEDQGLTGDE AEPFLDQSGG PGAPTTPRKL PSRPPPHYPG IKRKRSAPTS
241 RKLLSDKPQD FQIRVQVIEG RQLPGVNIKP VVKVTAAGQT KRTRIHKGNS PLFNETLFFN
301 LFDSPGELFD EPIFITVVDS RSLRTDALLG EFRMDVGTIY REPRHAYLRK WLLLSDPDDF
361 SAGARGYLKT SLCVLGPGDE APLERKDPSE DKEDIESNLL RPTGVALRGA HFCLKVFRAE
421 DLPQMDDAVM DNVKQIFGFE SNKKNLVDPF VEVSFAGKML CSKILEKTAN PQWNQNITLP
481 AMFPSMCEKM RIRIIDWDRL THNDIVATTY LSMSKISAPG GEIEVDDYLG FLPTFGPCYI
541 NLYGSPREFT GFPDPYTELN TGKGEGVAYR GRLLLSLETK LVEHSEQKVE DLPADDILRV
601 EKYLRRRKYS LFAAFYSATM LQDVDDAIQF EVSIGNYGNK FDMTCLPLAS TTQYSRAVFD
661 GCHYYYLPWG NVKPVVVLSS YWEDISHRIE TQNQLLGIAD RLEAGLEQVH LALKAQCSTE
721 DVDSLVAQLT DELIAGCSQP LGDIHETPSA THLDQYLYQL RTHHLSQITE AALALKLGHS
781 ELPAALEQAE DWLLRLRALA EEPQNSLPDI VIWMLQGDKR VAYQRVPAHQ VLFSRRGANY
841 CGKNCGKLQT IFLKYPMEKV PGARMPVQIR VKLWFGLSVD EKEFNQFAEG KLSVFAETYE
901 NETKLALVGN WGTTGLTYPK FSDVTGKIKL PKDSFRPSAG WTWAGDWFVC PEKTLLHDMD
961 AGHLSFVEEV FENQTRLPGG QWIYMSDNYT DVNGEKVLPK DDIECPLGWK WEDEEWSTDL
1021 NRAVDEQGWE YSITIPPERK PKHWVPAEKM YYTHRRRRWV RLRRRDLSQM EALKRHRQAE
1081 AEGEGWEYAS LFGWKFHLEY RKTDAFRRRR WRRRMEPLEK TGPAAVFALE GALGGVMDDK
1141 SEDSMSVSTL SFGVNRPTIS CIFDYGNRYH LRCYMYQARD LAAMDKDSFS DPYAIVSFLH
1201 QSQKTVVVKN TLNPTWDQTL IFYEIEIFGE PATVAEQPPS IVVELYDHDT YGADEFMGRC
1261 ICQPSLERMP RLAWFPLTRG SQPSGELLAS FELIQREKPA IHHIPGFEVQ ETSRILDESE
1321 DTDLPYPPPQ REANIYMVPQ NIKPALQRTA IEILAWGLRN MKSYQLANIS SPSLVVECGG
1381 QTVQSCVIRN LRKNPNFDIC TLFMEVMLPR EELYCPPITV KVIDNRQFGR RPVVGQCTIR
1441 SLESFLCDPY SAESPSPQGG PDDVSLLSPG EDVLIDIDDK EPLIPIQEEE FIDWWSKFFA
1501 SIGEREKCGS YLEKDFDTLK VYDTQLENVE AFEGLSDFCN TFKLYRGKTQ EETEDPSVIG
1561 EFKGLFKIYP LPEDPAIPMP PRQFHQLAAQ GPQECLVRIY IVRAFGLQPK DPNGKCDPYI
1621 KISIGKKSVS DQDNYIPCTL EPVFGKMFEL TCTLPLEKDL KITLYDYDLL SKDEKIGETV
1681 VDLENRLLSK FGARCGLPQT YCVSGPNQWR DQLRPSQLLH LFCQQHRVKA PVYRTDRVMF
1741 QDKEYSIEEI EAGRIPNPHL GPVEERLALH VLQQQGLVPE HVESRPLYSP LQPDIEQGKL
1801 QMWVDLFPKA LGRPGPPFNI TPRRARRFFL RCIIWNTRDV ILDDLSLTGE KMSDIYVKGW
1861 MIGFEEHKQK TDVHYRSLGG EGNFNWRFIF PFDYLPAEQV CTIAKKDAFW RLDKTESKIP
1921 ARVVFQIWDN DKFSFDDFLG SLQLDLNRMP KPAKTAKKCS LDQLDDAFHP EWFVSLFEQK
1981 TVKGWWPCVA EEGEKKILAG KLEMTLEIVA ESEHEERPAG QGRDEPNMNP KLEDPRRPDT
2041 SFLWFTSPYK TMKFILWRRF RWAIILFIIL FILLLFLAIF IYAFPNYAAM KLVKPFS
//