LOCUS ACB12760.1 2102 aa PRT HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant V1_4 protein.
ACCESSION EU515163-1
PROTEIN_ID ACB12760.1
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 6606)
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 6606)
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JOURNAL Unpublished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 6606)
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:HIT000484999"
/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 GEIEEEPAGA VKPSKASDLD DYLGFLPTFG PCYINLYGSP REFTGFPDPY
541 TELNTGKGEG VAYRGRLLLS LETKLVEHSE QKVEDLPADD ILRVEKYLRR RKYSLFAAFY
601 SATMLQDVDD AIQFEVSIGN YGNKFDMTCL PLASTTQYSR AVFDGCHYYY LPWGNVKPVV
661 VLSSYWEDIS HRIETQNQLL GIADRLEAGL EQVHLALKAQ CSTEDVDSLV AQLTDELIAG
721 CSQPLGDIHE TPSATHLDQY LYQLRTHHLS QITEAALALK LGHSELPAAL EQAEDWLLRL
781 RALAEEPQNS LPDIVIWMLQ GDKRVAYQRV PAHQVLFSRR GANYCGKNCG KLQTIFLKYP
841 MEKVPGARMP VQIRVKLWFG LSVDEKEFNQ FAEGKLSVFA ETYENETKLA LVGNWGTTGL
901 TYPKFSDVTG KIKLPKDSFR PSAGWTWAGD WFVCPEKTLL HDMDAGHLSF VEEVFENQTR
961 LPGGQWIYMS DNYTDVNGEK VLPKDDIECP LGWKWEDEEW STDLNRAVDE QGWEYSITIP
1021 PERKPKHWVP AEKMYYTHRR RRWVRLRRRD LSQMEALKRH RQAEAEGEGW EYASLFGWKF
1081 HLEYRKTDAF RRRRWRRRME PLEKTGPAAV FALEGALGGV MDDKSEDSMS VSTLSFGVNR
1141 PTISCIFDYG NRYHLRCYMY QARDLAAMDK DSFSDPYAIV SFLHQSQKTV VVKNTLNPTW
1201 DQTLIFYEIE IFGEPATVAE QPPSIVVELY DHDTYGADEF MGRCICQPSL ERMPRLAWFP
1261 LTRGSQPSGE LLASFELIQR EKPAIHHIPG FEVQETSRIL DESEDTDLPY PPPQREANIY
1321 MVPQNIKPAL QRTAIEILAW GLRNMKSYQL ANISSPSLVV ECGGQTVQSC VIRNLRKNPN
1381 FDICTLFMEV MLPREELYCP PITVKVIDNR QFGRRPVVGQ CTIRSLESFL CDPYSAESPS
1441 PQGGPDDVSL LSPGEDVLID IDDKEPLIPI QLADGLSSLA PTNTASPPSS PHEEEFIDWW
1501 SKFFASIGER EKCGSYLEKD FDTLKVYDTQ LENVEAFEGL SDFCNTFKLY RGKTQEETED
1561 PSVIGEFKGL FKIYPLPEDP AIPMPPRQFH QLAAQGPQEC LVRIYIVRAF GLQPKDPNGK
1621 CDPYIKISIG KKSVSDQDNY IPCTLEPVFG KMFELTCTLP LEKDLKITLY DYDLLSKDEK
1681 IGETVVDLEN RLLSKFGARC GLPQTYCVSG PNQWRDQLRP SQLLHLFCQQ HRVKAPVYRT
1741 DRVMFQDKEY SIEEIEAGRI PNPHLGPVEE RLALHVLQQQ GLVPEHVESR PLYSPLQPDI
1801 EQGKLQMWVD LFPKALGRPG PPFNITPRRA RRFFLRCIIW NTRDVILDDL SLTGEKMSDI
1861 YVKGWMIGFE EHKQKTDVHY RSLGGEGNFN WRFIFPFDYL PAEQVCTIAK KDAFWRLDKT
1921 ESKIPARVVF QIWDNDKFSF DDFLGSLQLD LNRMPKPAKT AKKCSLDQLD DAFHPEWFVS
1981 LFEQKTVKGW WPCVAEEGEK KILAGKLEMT LEIVAESEHE ERPAGQGRDE PNMNPKLEDP
2041 RRPDTSFLWF TSPYKTMKFI LWRRFRWAII LFIILFILLL FLAIFIYAFP NYAAMKLVKP
2101 FS
//