LOCUS ACB12761.1 2098 aa PRT HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant V1_5 protein.
ACCESSION EU515164-1
PROTEIN_ID ACB12761.1
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 6594)
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 6594)
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JOURNAL Unpublished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 6594)
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:HIT000485000"
/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 VVAGGGQSRA ETWSLLSDST MDTRYSGKKW
181 PAPTDTGGEE DTEDQGLTGD EAEPFLDQSG GPGAPTTPRK LPSRPPPHYP GIKRKRSAPT
241 SRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK PVVKVTAAGQ TKRTRIHKGN SPLFNETLFF
301 NLFDSPGELF DEPIFITVVD SRSLRTDALL GEFRMDVGTI YREPRHAYLR KWLLLSDPDD
361 FSAGARGYLK TSLCVLGPGD EAPLERKDPS EDKEDIESNL LRPTGVALRG AHFCLKVFRA
421 EDLPQMDDAV MDNVKQIFGF ESNKKNLVDP FVEVSFAGKM LCSKILEKTA NPQWNQNITL
481 PAMFPSMCEK MRIRIIDWDR LTHNDIVATT YLSMSKISAP GGEIEVDDYL GFLPTFGPCY
541 INLYGSPREF TGFPDPYTEL NTGKGEGVAY RGRLLLSLET KLVEHSEQKV EDLPADDILR
601 VEKYLRRRKY SLFAAFYSAT MLQDVDDAIQ FEVSIGNYGN KFDMTCLPLA STTQYSRAVF
661 DGCHYYYLPW GNVKPVVVLS SYWEDISHRI ETQNQLLGIA DRLEAGLEQV HLALKAQCST
721 EDVDSLVAQL TDELIAGCSQ PLGDIHETPS ATHLDQYLYQ LRTHHLSQIT EAALALKLGH
781 SELPAALEQA EDWLLRLRAL AEEPQNSLPD IVIWMLQGDK RVAYQRVPAH QVLFSRRGAN
841 YCGKNCGKLQ TIFLKYPMEK VPGARMPVQI RVKLWFGLSV DEKEFNQFAE GKLSVFAETY
901 ENETKLALVG NWGTTGLTYP KFSDVTGKIK LPKDSFRPSA GWTWAGDWFV CPEKTLLHDM
961 DAGHLSFVEE VFENQTRLPG GQWIYMSDNY TDVNGEKVLP KDDIECPLGW KWEDEEWSTD
1021 LNRAVDEQGW EYSITIPPER KPKHWVPAEK MYYTHRRRRW VRLRRRDLSQ MEALKRHRQA
1081 EAEGEGWEYA SLFGWKFHLE YRKTDAFRRR RWRRRMEPLE KTGPAAVFAL EGALGGVMDD
1141 KSEDSMSVST LSFGVNRPTI SCIFDYGNRY HLRCYMYQAR DLAAMDKDSF SDPYAIVSFL
1201 HQSQKTVVVK NTLNPTWDQT LIFYEIEIFG EPATVAEQPP SIVVELYDHD TYGADEFMGR
1261 CICQPSLERM PRLAWFPLTR GSQPSGELLA SFELIQREKP AIHHIPGFEV QETSRILDES
1321 EDTDLPYPPP QREANIYMVP QNIKPALQRT AIEILAWGLR NMKSYQLANI SSPSLVVECG
1381 GQTVQSCVIR NLRKNPNFDI CTLFMEVMLP REELYCPPIT VKVIDNRQFG RRPVVGQCTI
1441 RSLESFLCDP YSAESPSPQG GPDDVSLLSP GEDVLIDIDD KEPLIPIQEE EFIDWWSKFF
1501 ASIGEREKCG SYLEKDFDTL KVYDTQLENV EAFEGLSDFC NTFKLYRGKT QEETEDPSVI
1561 GEFKGLFKIY PLPEDPAIPM PPRQFHQLAA QGPQECLVRI YIVRAFGLQP KDPNGKCDPY
1621 IKISIGKKSV SDQDNYIPCT LEPVFGKMFE LTCTLPLEKD LKITLYDYDL LSKDEKIGET
1681 VVDLENRLLS KFGARCGLPQ TYCVSGPNQW RDQLRPSQLL HLFCQQHRVK APVYRTDRVM
1741 FQDKEYSIEE IEAGRIPNPH LGPVEERLAL HVLQQQGLVP EHVESRPLYS PLQPDIEQGK
1801 LQMWVDLFPK ALGRPGPPFN ITPRRARRFF LRCIIWNTRD VILDDLSLTG EKMSDIYVKG
1861 WMIGFEEHKQ KTDVHYRSLG GEGNFNWRFI FPFDYLPAEQ VCTIAKKDAF WRLDKTESKI
1921 PARVVFQIWD NDKFSFDDFL GSLQLDLNRM PKPAKTAKKC SLDQLDDAFH PEWFVSLFEQ
1981 KTVKGWWPCV AEEGEKKILA GKLEMTLEIV AESEHEERPA GQGRDEPNMN PKLEDPRRPD
2041 TSFLWFTSPY KTMKFILWRR FRWAIILFII LFILLLFLAI FIYAFPNYAA MKLVKPFS
//