LOCUS EU515155 6769 bp mRNA linear HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant 2 (DYSF) mRNA, complete cds,
alternatively spliced.
ACCESSION EU515155
VERSION EU515155.1
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 6769)
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 6769)
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JOURNAL Unpublished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 6769)
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..6769
/db_xref="H-InvDB:HIT000484991"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6769
/gene="DYSF"
CDS 278..6613
/gene="DYSF"
/note="alternatively spliced"
/codon_start=1
/product="dysferlin variant 2"
/protein_id="ACB12752.1"
/translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRAE
TWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPR
KLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTA
AGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRM
DVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDK
EDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF
VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVAT
TYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGF
PDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYS
LFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLP
WGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLV
AQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPA
ALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCG
KNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYE
NETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHD
MDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEW
STDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALK
RHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGA
LGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFS
DPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDH
DTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPG
FEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSY
QLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKV
IDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDK
EPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDF
CNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECL
VRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTL
PLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQ
LRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALH
VLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRF
FLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNW
RFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQL
DLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKL
EMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRF
RWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS"
BASE COUNT 1507 a 1977 c 1964 g 1321 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 gcaggcgggg gacagagccg ggccgagact tggtccctgc tcagtgacag
781 caccatggac acgagatact ctggaaagaa gtggccggcc cccacggaca caggaggaga
841 ggaagacaca gaggaccagg gactcactgg agatgaggcg gagccattcc tggatcaaag
901 cggaggcccg ggggctccca ccaccccaag gaaactacct tcacgtcctc cgccccacta
961 ccccgggatc aaaagaaagc gaagtgcgcc tacatctaga aagctgctgt cagacaaacc
1021 gcaggatttc cagatcaggg tccaggtgat cgaggggcgc cagctgccgg gggtgaacat
1081 caagcctgtg gtcaaggtta ccgctgcagg gcagaccaag cggacgcgga tccacaaggg
1141 aaacagccca ctcttcaatg agactctttt cttcaacttg tttgactctc ctggggagct
1201 gtttgatgag cccatcttta tcacggtggt agactctcgt tctctcagga cagatgctct
1261 cctcggggag ttccggatgg acgtgggcac catttacaga gagccccggc acgcctatct
1321 caggaagtgg ctgctgctct cagaccctga tgacttctct gctggggcca gaggctacct
1381 gaaaacaagc ctttgtgtgc tggggcctgg ggacgaagcg cctctggaga gaaaagaccc
1441 ctctgaagac aaggaggaca ttgaaagcaa cctgctccgg cccacaggcg tagccctgcg
1501 aggagcccac ttctgcctga aggtcttccg ggccgaggac ttgccgcaga tggacgatgc
1561 cgtgatggac aacgtgaaac agatctttgg cttcgagagt aacaagaaga acttggtgga
1621 cccctttgtg gaggtcagct ttgcggggaa aatgctgtgc agcaagatct tggagaagac
1681 ggccaaccct cagtggaacc agaacatcac actgcctgcc atgtttccct ccatgtgcga
1741 aaaaatgagg attcgtatca tagactggga ccgcctgact cacaatgaca tcgtggctac
1801 cacctacctg agtatgtcga aaatctctgc ccctggagga gaaatagaag aggagcctgc
1861 aggtgctgtc aagccttcga aagcctcaga cttggatgac tacctgggct tcctccccac
1921 ttttgggccc tgctacatca acctctatgg cagtcccaga gagttcacag gcttcccaga
1981 cccctacaca gagctcaaca caggcaaggg ggaaggtgtg gcttatcgtg gccggcttct
2041 gctctccctg gagaccaagc tggtggagca cagtgaacag aaggtggagg accttcctgc
2101 ggatgacatc ctccgggtgg agaagtacct taggaggcgc aagtactccc tgtttgcggc
2161 cttctactca gccaccatgc tgcaggatgt ggatgatgcc atccagtttg aggtcagcat
2221 cgggaactac gggaacaagt tcgacatgac ctgcctgccg ctggcctcca ccactcagta
2281 cagccgtgca gtctttgacg ggtgccacta ctactaccta ccctggggta acgtgaaacc
2341 tgtggtggtg ctgtcatcct actgggagga catcagccat agaatcgaga ctcagaacca
2401 gctgcttggg attgctgacc ggctggaagc tggcctggag caggtccacc tggccctgaa
2461 ggcgcagtgc tccacggagg acgtggactc gctggtggct cagctgacgg atgagctcat
2521 cgcaggctgc agccagcctc tgggtgacat ccatgagaca ccctctgcca cccacctgga
2581 ccagtacctg taccagctgc gcacccatca cctgagccaa atcactgagg ctgccctggc
2641 cctgaagctc ggccacagtg agctccctgc agctctggag caggcggagg actggctcct
2701 gcgtctgcgt gccctggcag aggagcccca gaacagcctg ccggacatcg tcatctggat
2761 gctgcaggga gacaagcgtg tggcatacca gcgggtgccc gcccaccaag tcctcttctc
2821 ccggcggggt gccaactact gtggcaagaa ttgtgggaag ctacagacaa tctttctgaa
2881 atatccgatg gagaaggtgc ctggcgcccg gatgccagtg cagatacggg tcaagctgtg
2941 gtttgggctc tctgtggatg agaaggagtt caaccagttt gctgagggga agctgtctgt
3001 ctttgctgaa acctatgaga acgagactaa gttggccctt gttgggaact ggggcacaac
3061 gggcctcacc taccccaagt tttctgacgt cacgggcaag atcaagctac ccaaggacag
3121 cttccgcccc tcggccggct ggacctgggc tggagattgg ttcgtgtgtc cggagaagac
3181 tctgctccat gacatggacg ccggtcacct gagcttcgtg gaagaggtgt ttgagaacca
3241 gacccggctt cccggaggcc agtggatcta catgagtgac aactacaccg atgtgaacgg
3301 ggagaaggtg cttcccaagg atgacattga gtgcccactg ggctggaagt gggaagatga
3361 ggaatggtcc acagacctca accgggctgt cgatgagcaa ggctgggagt atagcatcac
3421 catccccccg gagcggaagc cgaagcactg ggtccctgct gagaagatgt actacacaca
3481 ccgacggcgg cgctgggtgc gcctgcgcag gagggatctc agccaaatgg aagcactgaa
3541 aaggcacagg caggcggagg cggagggcga gggctgggag tacgcctctc tttttggctg
3601 gaagttccac ctcgagtacc gcaagacaga tgccttccgc cgccgccgct ggcgccgtcg
3661 catggagcca ctggagaaga cggggcctgc agctgtgttt gcccttgagg gggccctggg
3721 cggcgtgatg gatgacaaga gtgaagattc catgtccgtc tccaccttga gcttcggtgt
3781 gaacagaccc acgatttcct gcatattcga ctatgggaac cgctaccatc tacgctgcta
3841 catgtaccag gcccgggacc tggctgcgat ggacaaggac tctttttctg atccctatgc
3901 catcgtctcc ttcctgcacc agagccagaa gacggtggtg gtgaagaaca cccttaaccc
3961 cacctgggac cagacgctca tcttctacga gatcgagatc tttggcgagc cggccacagt
4021 tgctgagcaa ccgcccagca ttgtggtgga gctgtacgac catgacactt atggtgcaga
4081 cgagtttatg ggtcgctgca tctgtcaacc gagtctggaa cggatgccac ggctggcctg
4141 gttcccactg acgaggggca gccagccgtc gggggagctg ctggcctctt ttgagctcat
4201 ccagagagag aagccggcca tccaccatat tcctggtttt gaggtgcagg agacatcaag
4261 gatcctggat gagtctgagg acacagacct gccctaccca ccaccccaga gggaggccaa
4321 catctacatg gttcctcaga acatcaagcc agcgctccag cgtaccgcca tcgagatcct
4381 ggcatggggc ctgcggaaca tgaagagtta ccagctggcc aacatctcct cccccagcct
4441 cgtggtagag tgtgggggcc agacggtgca gtcctgtgtc atcaggaacc tccggaagaa
4501 ccccaacttt gacatctgca ccctcttcat ggaagtgatg ctgcccaggg aggagctcta
4561 ctgccccccc atcaccgtca aggtcatcga taaccgccag tttggccgcc ggcctgtggt
4621 gggccagtgt accatccgct ccctggagag cttcctgtgt gacccctact cggcggagag
4681 tccatcccca cagggtggcc cagacgatgt gagcctactc agtcctgggg aagacgtgct
4741 catcgacatt gatgacaagg agcccctcat ccccatccag gaggaagagt tcatcgattg
4801 gtggagcaaa ttctttgcct ccatagggga gagggaaaag tgcggctcct acctggagaa
4861 ggattttgac accctgaagg tctatgacac acagctggag aatgtggagg cctttgaggg
4921 cctgtctgac ttttgtaaca ccttcaagct gtaccggggc aagacgcagg aggagacaga
4981 agatccatct gtgattggtg aatttaaggg cctcttcaaa atttatcccc tcccagaaga
5041 cccagccatc cccatgcccc caagacagtt ccaccagctg gccgcccagg gaccccagga
5101 gtgcttggtc cgtatctaca ttgtccgagc atttggcctg cagcccaagg accccaatgg
5161 aaagtgtgat ccttacatca agatctccat agggaagaaa tcagtgagtg accaggataa
5221 ctacatcccc tgcacgctgg agcccgtatt tggaaagatg ttcgagctga cctgcactct
5281 gcctctggag aaggacctaa agatcactct ctatgactat gacctcctct ccaaggacga
5341 aaagatcggt gagacggtcg tcgacctgga gaacaggctg ctgtccaagt ttggggctcg
5401 ctgtggactc ccacagacct actgtgtctc tggaccgaac cagtggcggg accagctccg
5461 cccctcccag ctcctccacc tcttctgcca gcagcataga gtcaaggcac ctgtgtaccg
5521 gacagaccgt gtaatgtttc aggataaaga atattccatt gaagagatag aggctggcag
5581 gatcccaaac ccacacctgg gcccagtgga ggagcgtctg gctctgcatg tgcttcagca
5641 gcagggcctg gtcccggagc acgtggagtc acggcccctc tacagccccc tgcagccaga
5701 catcgagcag gggaagctgc agatgtgggt cgacctattt ccgaaggccc tggggcggcc
5761 tggacctccc ttcaacatca ccccacggag agccagaagg tttttcctgc gttgtattat
5821 ctggaatacc agagatgtga tcctggatga cctgagcctc acgggggaga agatgagcga
5881 catttatgtg aaaggttgga tgattggctt tgaagaacac aagcaaaaga cagacgtgca
5941 ttatcgttcc ctgggaggtg aaggcaactt caactggagg ttcattttcc ccttcgacta
6001 cctgccagct gagcaagtct gtaccattgc caagaaggat gccttctgga ggctggacaa
6061 gactgagagc aaaatcccag cacgagtggt gttccagatc tgggacaatg acaagttctc
6121 ctttgatgat tttctgggct ccctgcagct cgatctcaac cgcatgccca agccagccaa
6181 gacagccaag aagtgctcct tggaccagct ggatgatgct ttccacccag aatggtttgt
6241 gtcccttttt gagcagaaaa cagtgaaggg ctggtggccc tgtgtagcag aagagggtga
6301 gaagaaaata ctggcgggca agctggaaat gaccttggag attgtagcag agagtgagca
6361 tgaggagcgg cctgctggcc agggccggga tgagcccaac atgaacccta agcttgagga
6421 cccaaggcgc cccgacacct ccttcctgtg gtttacctcc ccatacaaga ccatgaagtt
6481 catcctgtgg cggcgtttcc ggtgggccat catcctcttc atcatcctct tcatcctgct
6541 gctgttcctg gccatcttca tctacgcctt cccgaactat gctgccatga agctggtgaa
6601 gcccttcagc tgaggactct cctgccctgt agaaggggcc gtggggtccc ctccagcatg
6661 ggactggcct gcctcctccg cccagctcgg cgagctcctc cagacctcct aggcctgatt
6721 gtcctgccag ggtgggcaga cagacagatg gaccggccca cactcccag
//