LOCUS ACB12757.1 2118 aa PRT HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant 7 protein.
ACCESSION EU515160-1
PROTEIN_ID ACB12757.1
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 6790)
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 6790)
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JOURNAL Unpublished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 6790)
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:HIT000484996"
/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 EPLIPIQLAD GLSSLAPTNT
1501 ASPPSSPHEE EFIDWWSKFF ASIGEREKCG SYLEKDFDTL KVYDTQLENV EAFEGLSDFC
1561 NTFKLYRGKT QEETEDPSVI GEFKGLFKIY PLPEDPAIPM PPRQFHQLAA QGPQECLVRI
1621 YIVRAFGLQP KDPNGKCDPY IKISIGKKSV SDQDNYIPCT LEPVFGKMFE LTCTLPLEKD
1681 LKITLYDYDL LSKDEKIGET VVDLENRLLS KFGARCGLPQ TYCVSGPNQW RDQLRPSQLL
1741 HLFCQQHRVK APVYRTDRVM FQDKEYSIEE IEAGRIPNPH LGPVEERLAL HVLQQQGLVP
1801 EHVESRPLYS PLQPDIEQGK LQMWVDLFPK ALGRPGPPFN ITPRRARRFF LRCIIWNTRD
1861 VILDDLSLTG EKMSDIYVKG WMIGFEEHKQ KTDVHYRSLG GEGNFNWRFI FPFDYLPAEQ
1921 VCTIAKKDAF WRLDKTESKI PARVVFQIWD NDKFSFDDFL GSLQLDLNRM PKPAKTAKKC
1981 SLDQLDDAFH PEWFVSLFEQ KTVKGWWPCV AEEGEKKILA GKLEMTLEIV AESEHEERPA
2041 GQGRDEPNMN PKLEDPRRPD TSFLWFTSPY KTMKFILWRR FRWAIILFII LFILLLFLAI
2101 FIYAFPNYAA MKLVKPFS
//