LOCUS ACB12753.1 2066 aa PRT HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant 3 protein.
ACCESSION EU515156-1
PROTEIN_ID ACB12753.1
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 6634)
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 6634)
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JOURNAL Unpublished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 6634)
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:HIT000484992"
/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 EIEVDDYLGF LPTFGPCYIN LYGSPREFTG FPDPYTELNT GKGEGVAYRG
541 RLLLSLETKL VEHSEQKVED LPADDILRVE KYLRRRKYSL FAAFYSATML QDVDDAIQFE
601 VSIGNYGNKF DMTCLPLAST TQYSRAVFDG CHYYYLPWGN VKPVVVLSSY WEDISHRIET
661 QNQLLGIADR LEAGLEQVHL ALKAQCSTED VDSLVAQLTD ELIAGCSQPL GDIHETPSAT
721 HLDQYLYQLR THHLSQITEA ALALKLGHSE LPAALEQAED WLLRLRALAE EPQNSLPDIV
781 IWMLQGDKRV AYQRVPAHQV LFSRRGANYC GKNCGKLQTI FLKYPMEKVP GARMPVQIRV
841 KLWFGLSVDE KEFNQFAEGK LSVFAETYEN ETKLALVGNW GTTGLTYPKF SDVTGKIKLP
901 KDSFRPSAGW TWAGDWFVCP EKTLLHDMDA GHLSFVEEVF ENQTRLPGGQ WIYMSDNYTD
961 VNGEKVLPKD DIECPLGWKW EDEEWSTDLN RAVDEQGWEY SITIPPERKP KHWVPAEKMY
1021 YTHRRRRWVR LRRRDLSQME ALKRHRQAEA EGEGWEYASL FGWKFHLEYR KTDAFRRRRW
1081 RRRMEPLEKT GPAAVFALEG ALGGVMDDKS EDSMSVSTLS FGVNRPTISC IFDYGNRYHL
1141 RCYMYQARDL AAMDKDSFSD PYAIVSFLHQ SQKTVVVKNT LNPTWDQTLI FYEIEIFGEP
1201 ATVAEQPPSI VVELYDHDTY GADEFMGRCI CQPSLERMPR LAWFPLTRGS QPSGELLASF
1261 ELIQREKPAI HHIPGFEVQE TSRILDESED TDLPYPPPQR EANIYMVPQN IKPALQRTAI
1321 EILAWGLRNM KSYQLANISS PSLVVECGGQ TVQSCVIRNL RKNPNFDICT LFMEVMLPRE
1381 ELYCPPITVK VIDNRQFGRR PVVGQCTIRS LESFLCDPYS AESPSPQGGP DDVSLLSPGE
1441 DVLIDIDDKE PLIPIQEEEF IDWWSKFFAS IGEREKCGSY LEKDFDTLKV YDTQLENVEA
1501 FEGLSDFCNT FKLYRGKTQE ETEDPSVIGE FKGLFKIYPL PEDPAIPMPP RQFHQLAAQG
1561 PQECLVRIYI VRAFGLQPKD PNGKCDPYIK ISIGKKSVSD QDNYIPCTLE PVFGKMFELT
1621 CTLPLEKDLK ITLYDYDLLS KDEKIGETVV DLENRLLSKF GARCGLPQTY CVSGPNQWRD
1681 QLRPSQLLHL FCQQHRVKAP VYRTDRVMFQ DKEYSIEEIE AGRIPNPHLG PVEERLALHV
1741 LQQQGLVPEH VESRPLYSPL QPDIEQGKLQ MWVDLFPKAL GRPGPPFNIT PRRARRFFLR
1801 CIIWNTRDVI LDDLSLTGEK MSDIYVKGWM IGFEEHKQKT DVHYRSLGGE GNFNWRFIFP
1861 FDYLPAEQVC TIAKKDAFWR LDKTESKIPA RVVFQIWDND KFSFDDFLGS LQLDLNRMPK
1921 PAKTAKKCSL DQLDDAFHPE WFVSLFEQKT VKGWWPCVAE EGEKKILAGK LEMTLEIVAE
1981 SEHEERPAGQ GRDEPNMNPK LEDPRRPDTS FLWFTSPYKT MKFILWRRFR WAIILFIILF
2041 ILLLFLAIFI YAFPNYAAMK LVKPFS
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