LOCUS EU515156 6634 bp mRNA linear HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant 3 (DYSF) mRNA, complete cds,
alternatively spliced.
ACCESSION EU515156
VERSION EU515156.1
KEYWORDS .
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JOURNAL Unpublished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 Location/Qualifiers
source 1..6634
/db_xref="H-InvDB:HIT000484992"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6634
/gene="DYSF"
CDS 278..6478
/gene="DYSF"
/note="alternatively spliced"
/codon_start=1
/product="dysferlin variant 3"
/protein_id="ACB12753.1"
/translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDT
EDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQ
DFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGE
LFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGAR
GYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLP
QMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEVDDYLGFLPTFGPCY
INLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDI
LRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYS
RAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLAL
KAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEA
ALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAH
QVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQF
AEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAG
DWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDI
ECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVR
LRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLE
KTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQ
ARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVA
EQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFEL
IQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAI
EILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLP
REELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLL
SPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQ
LENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQ
FHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLE
PVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQ
TYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPN
PHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPG
PPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDV
HYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDND
KFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCV
AEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTS
PYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS"
BASE COUNT 1476 a 1937 c 1919 g 1302 t
ORIGIN
1 gggtggaaga tgagcagaag cccctgttct cggaacgccg gctgacaagc ggggtgagcg
61 caggcggggc ggggacccag cctagcccac tggagcagcc gggggtggcc cgttcccctt
121 taagagcaac tgctctaagc caggagccag agattcgagc cggcctcgcc cagccagccc
181 tctccagcga ggggacccac aagcggcgcc tcggccctcc cgacctttcc gagccctctt
241 tgcgccctgg gcgcacgggg ccctacacgc gccaagcatg ctgagggtct tcatcctcta
301 tgccgagaac gtccacacac ccgacaccga catcagcgat gcctactgct ccgcggtgtt
361 tgcaggggtg aagaagagaa ccaaagtcat caagaacagc gtgaaccctg tatggaatga
421 gggatttgaa tgggacctca agggcatccc cctggaccag ggctctgagc ttcatgtggt
481 ggtcaaagac catgagacga tggggaggaa caggttcctg ggggaagcca aggtcccact
541 ccgagaggtc ctcgccaccc ctagtctgtc cgccagcttc aatgcccccc tgctggacac
601 caagaagcag cccacagggg cctcgctggt cctgcaggtg tcctacacac cgctgcctgg
661 agctgtgccc ctgttcccgc cccctactcc tctggagccc tccccgactc tgcctgacct
721 ggatgtagtg gcagacacag gaggagagga agacacagag gaccagggac tcactggaga
781 tgaggcggag ccattcctgg atcaaagcgg aggcccgggg gctcccacca ccccaaggaa
841 actaccttca cgtcctccgc cccactaccc cgggatcaaa agaaagcgaa gtgcgcctac
901 atctagaaag ctgctgtcag acaaaccgca ggatttccag atcagggtcc aggtgatcga
961 ggggcgccag ctgccggggg tgaacatcaa gcctgtggtc aaggttaccg ctgcagggca
1021 gaccaagcgg acgcggatcc acaagggaaa cagcccactc ttcaatgaga ctcttttctt
1081 caacttgttt gactctcctg gggagctgtt tgatgagccc atctttatca cggtggtaga
1141 ctctcgttct ctcaggacag atgctctcct cggggagttc cggatggacg tgggcaccat
1201 ttacagagag ccccggcacg cctatctcag gaagtggctg ctgctctcag accctgatga
1261 cttctctgct ggggccagag gctacctgaa aacaagcctt tgtgtgctgg ggcctgggga
1321 cgaagcgcct ctggagagaa aagacccctc tgaagacaag gaggacattg aaagcaacct
1381 gctccggccc acaggcgtag ccctgcgagg agcccacttc tgcctgaagg tcttccgggc
1441 cgaggacttg ccgcagatgg acgatgccgt gatggacaac gtgaaacaga tctttggctt
1501 cgagagtaac aagaagaact tggtggaccc ctttgtggag gtcagctttg cggggaaaat
1561 gctgtgcagc aagatcttgg agaagacggc caaccctcag tggaaccaga acatcacact
1621 gcctgccatg tttccctcca tgtgcgaaaa aatgaggatt cgtatcatag actgggaccg
1681 cctgactcac aatgacatcg tggctaccac ctacctgagt atgtcgaaaa tctctgcccc
1741 tggaggagaa atagaagtgg atgactacct gggcttcctc cccacttttg ggccctgcta
1801 catcaacctc tatggcagtc ccagagagtt cacaggcttc ccagacccct acacagagct
1861 caacacaggc aagggggaag gtgtggctta tcgtggccgg cttctgctct ccctggagac
1921 caagctggtg gagcacagtg aacagaaggt ggaggacctt cctgcggatg acatcctccg
1981 ggtggagaag taccttagga ggcgcaagta ctccctgttt gcggccttct actcagccac
2041 catgctgcag gatgtggatg atgccatcca gtttgaggtc agcatcggga actacgggaa
2101 caagttcgac atgacctgcc tgccgctggc ctccaccact cagtacagcc gtgcagtctt
2161 tgacgggtgc cactactact acctaccctg gggtaacgtg aaacctgtgg tggtgctgtc
2221 atcctactgg gaggacatca gccatagaat cgagactcag aaccagctgc ttgggattgc
2281 tgaccggctg gaagctggcc tggagcaggt ccacctggcc ctgaaggcgc agtgctccac
2341 ggaggacgtg gactcgctgg tggctcagct gacggatgag ctcatcgcag gctgcagcca
2401 gcctctgggt gacatccatg agacaccctc tgccacccac ctggaccagt acctgtacca
2461 gctgcgcacc catcacctga gccaaatcac tgaggctgcc ctggccctga agctcggcca
2521 cagtgagctc cctgcagctc tggagcaggc ggaggactgg ctcctgcgtc tgcgtgccct
2581 ggcagaggag ccccagaaca gcctgccgga catcgtcatc tggatgctgc agggagacaa
2641 gcgtgtggca taccagcggg tgcccgccca ccaagtcctc ttctcccggc ggggtgccaa
2701 ctactgtggc aagaattgtg ggaagctaca gacaatcttt ctgaaatatc cgatggagaa
2761 ggtgcctggc gcccggatgc cagtgcagat acgggtcaag ctgtggtttg ggctctctgt
2821 ggatgagaag gagttcaacc agtttgctga ggggaagctg tctgtctttg ctgaaaccta
2881 tgagaacgag actaagttgg cccttgttgg gaactggggc acaacgggcc tcacctaccc
2941 caagttttct gacgtcacgg gcaagatcaa gctacccaag gacagcttcc gcccctcggc
3001 cggctggacc tgggctggag attggttcgt gtgtccggag aagactctgc tccatgacat
3061 ggacgccggt cacctgagct tcgtggaaga ggtgtttgag aaccagaccc ggcttcccgg
3121 aggccagtgg atctacatga gtgacaacta caccgatgtg aacggggaga aggtgcttcc
3181 caaggatgac attgagtgcc cactgggctg gaagtgggaa gatgaggaat ggtccacaga
3241 cctcaaccgg gctgtcgatg agcaaggctg ggagtatagc atcaccatcc ccccggagcg
3301 gaagccgaag cactgggtcc ctgctgagaa gatgtactac acacaccgac ggcggcgctg
3361 ggtgcgcctg cgcaggaggg atctcagcca aatggaagca ctgaaaaggc acaggcaggc
3421 ggaggcggag ggcgagggct gggagtacgc ctctcttttt ggctggaagt tccacctcga
3481 gtaccgcaag acagatgcct tccgccgccg ccgctggcgc cgtcgcatgg agccactgga
3541 gaagacgggg cctgcagctg tgtttgccct tgagggggcc ctgggcggcg tgatggatga
3601 caagagtgaa gattccatgt ccgtctccac cttgagcttc ggtgtgaaca gacccacgat
3661 ttcctgcata ttcgactatg ggaaccgcta ccatctacgc tgctacatgt accaggcccg
3721 ggacctggct gcgatggaca aggactcttt ttctgatccc tatgccatcg tctccttcct
3781 gcaccagagc cagaagacgg tggtggtgaa gaacaccctt aaccccacct gggaccagac
3841 gctcatcttc tacgagatcg agatctttgg cgagccggcc acagttgctg agcaaccgcc
3901 cagcattgtg gtggagctgt acgaccatga cacttatggt gcagacgagt ttatgggtcg
3961 ctgcatctgt caaccgagtc tggaacggat gccacggctg gcctggttcc cactgacgag
4021 gggcagccag ccgtcggggg agctgctggc ctcttttgag ctcatccaga gagagaagcc
4081 ggccatccac catattcctg gttttgaggt gcaggagaca tcaaggatcc tggatgagtc
4141 tgaggacaca gacctgccct acccaccacc ccagagggag gccaacatct acatggttcc
4201 tcagaacatc aagccagcgc tccagcgtac cgccatcgag atcctggcat ggggcctgcg
4261 gaacatgaag agttaccagc tggccaacat ctcctccccc agcctcgtgg tagagtgtgg
4321 gggccagacg gtgcagtcct gtgtcatcag gaacctccgg aagaacccca actttgacat
4381 ctgcaccctc ttcatggaag tgatgctgcc cagggaggag ctctactgcc cccccatcac
4441 cgtcaaggtc atcgataacc gccagtttgg ccgccggcct gtggtgggcc agtgtaccat
4501 ccgctccctg gagagcttcc tgtgtgaccc ctactcggcg gagagtccat ccccacaggg
4561 tggcccagac gatgtgagcc tactcagtcc tggggaagac gtgctcatcg acattgatga
4621 caaggagccc ctcatcccca tccaggagga agagttcatc gattggtgga gcaaattctt
4681 tgcctccata ggggagaggg aaaagtgcgg ctcctacctg gagaaggatt ttgacaccct
4741 gaaggtctat gacacacagc tggagaatgt ggaggccttt gagggcctgt ctgacttttg
4801 taacaccttc aagctgtacc ggggcaagac gcaggaggag acagaagatc catctgtgat
4861 tggtgaattt aagggcctct tcaaaattta tcccctccca gaagacccag ccatccccat
4921 gcccccaaga cagttccacc agctggccgc ccagggaccc caggagtgct tggtccgtat
4981 ctacattgtc cgagcatttg gcctgcagcc caaggacccc aatggaaagt gtgatcctta
5041 catcaagatc tccataggga agaaatcagt gagtgaccag gataactaca tcccctgcac
5101 gctggagccc gtatttggaa agatgttcga gctgacctgc actctgcctc tggagaagga
5161 cctaaagatc actctctatg actatgacct cctctccaag gacgaaaaga tcggtgagac
5221 ggtcgtcgac ctggagaaca ggctgctgtc caagtttggg gctcgctgtg gactcccaca
5281 gacctactgt gtctctggac cgaaccagtg gcgggaccag ctccgcccct cccagctcct
5341 ccacctcttc tgccagcagc atagagtcaa ggcacctgtg taccggacag accgtgtaat
5401 gtttcaggat aaagaatatt ccattgaaga gatagaggct ggcaggatcc caaacccaca
5461 cctgggccca gtggaggagc gtctggctct gcatgtgctt cagcagcagg gcctggtccc
5521 ggagcacgtg gagtcacggc ccctctacag ccccctgcag ccagacatcg agcaggggaa
5581 gctgcagatg tgggtcgacc tatttccgaa ggccctgggg cggcctggac ctcccttcaa
5641 catcacccca cggagagcca gaaggttttt cctgcgttgt attatctgga ataccagaga
5701 tgtgatcctg gatgacctga gcctcacggg ggagaagatg agcgacattt atgtgaaagg
5761 ttggatgatt ggctttgaag aacacaagca aaagacagac gtgcattatc gttccctggg
5821 aggtgaaggc aacttcaact ggaggttcat tttccccttc gactacctgc cagctgagca
5881 agtctgtacc attgccaaga aggatgcctt ctggaggctg gacaagactg agagcaaaat
5941 cccagcacga gtggtgttcc agatctggga caatgacaag ttctcctttg atgattttct
6001 gggctccctg cagctcgatc tcaaccgcat gcccaagcca gccaagacag ccaagaagtg
6061 ctccttggac cagctggatg atgctttcca cccagaatgg tttgtgtccc tttttgagca
6121 gaaaacagtg aagggctggt ggccctgtgt agcagaagag ggtgagaaga aaatactggc
6181 gggcaagctg gaaatgacct tggagattgt agcagagagt gagcatgagg agcggcctgc
6241 tggccagggc cgggatgagc ccaacatgaa ccctaagctt gaggacccaa ggcgccccga
6301 cacctccttc ctgtggttta cctccccata caagaccatg aagttcatcc tgtggcggcg
6361 tttccggtgg gccatcatcc tcttcatcat cctcttcatc ctgctgctgt tcctggccat
6421 cttcatctac gccttcccga actatgctgc catgaagctg gtgaagccct tcagctgagg
6481 actctcctgc cctgtagaag gggccgtggg gtcccctcca gcatgggact ggcctgcctc
6541 ctccgcccag ctcggcgagc tcctccagac ctcctaggcc tgattgtcct gccagggtgg
6601 gcagacagac agatggaccg gcccacactc ccag
//