LOCUS EU515158 6727 bp mRNA linear HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant 5 (DYSF) mRNA, complete cds,
alternatively spliced.
ACCESSION EU515158
VERSION EU515158.1
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 6727)
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 6727)
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JOURNAL Unpublished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 6727)
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..6727
/db_xref="H-InvDB:HIT000484994"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6727
/gene="DYSF"
CDS 278..6571
/gene="DYSF"
/note="alternatively spliced"
/codon_start=1
/product="dysferlin variant 5"
/protein_id="ACB12755.1"
/translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRAE
TWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPR
KLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTA
AGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRM
DVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDK
EDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF
VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVAT
TYLSMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEG
VAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDV
DDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYW
EDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQP
LGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRA
LAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYP
MEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTT
GLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFE
NQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWE
YSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEY
ASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMS
VSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQK
TVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCIC
QPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESE
DTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVEC
GGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQ
CTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDW
WSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEE
TEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPK
DPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYD
LLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQH
RVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVES
RPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVIL
DDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQV
CTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKK
CSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEE
RPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILL
LFLAIFIYAFPNYAAMKLVKPFS"
BASE COUNT 1497 a 1965 c 1952 g 1313 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 tggatgacta
1861 cctgggcttc ctccccactt ttgggccctg ctacatcaac ctctatggca gtcccagaga
1921 gttcacaggc ttcccagacc cctacacaga gctcaacaca ggcaaggggg aaggtgtggc
1981 ttatcgtggc cggcttctgc tctccctgga gaccaagctg gtggagcaca gtgaacagaa
2041 ggtggaggac cttcctgcgg atgacatcct ccgggtggag aagtacctta ggaggcgcaa
2101 gtactccctg tttgcggcct tctactcagc caccatgctg caggatgtgg atgatgccat
2161 ccagtttgag gtcagcatcg ggaactacgg gaacaagttc gacatgacct gcctgccgct
2221 ggcctccacc actcagtaca gccgtgcagt ctttgacggg tgccactact actacctacc
2281 ctggggtaac gtgaaacctg tggtggtgct gtcatcctac tgggaggaca tcagccatag
2341 aatcgagact cagaaccagc tgcttgggat tgctgaccgg ctggaagctg gcctggagca
2401 ggtccacctg gccctgaagg cgcagtgctc cacggaggac gtggactcgc tggtggctca
2461 gctgacggat gagctcatcg caggctgcag ccagcctctg ggtgacatcc atgagacacc
2521 ctctgccacc cacctggacc agtacctgta ccagctgcgc acccatcacc tgagccaaat
2581 cactgaggct gccctggccc tgaagctcgg ccacagtgag ctccctgcag ctctggagca
2641 ggcggaggac tggctcctgc gtctgcgtgc cctggcagag gagccccaga acagcctgcc
2701 ggacatcgtc atctggatgc tgcagggaga caagcgtgtg gcataccagc gggtgcccgc
2761 ccaccaagtc ctcttctccc ggcggggtgc caactactgt ggcaagaatt gtgggaagct
2821 acagacaatc tttctgaaat atccgatgga gaaggtgcct ggcgcccgga tgccagtgca
2881 gatacgggtc aagctgtggt ttgggctctc tgtggatgag aaggagttca accagtttgc
2941 tgaggggaag ctgtctgtct ttgctgaaac ctatgagaac gagactaagt tggcccttgt
3001 tgggaactgg ggcacaacgg gcctcaccta ccccaagttt tctgacgtca cgggcaagat
3061 caagctaccc aaggacagct tccgcccctc ggccggctgg acctgggctg gagattggtt
3121 cgtgtgtccg gagaagactc tgctccatga catggacgcc ggtcacctga gcttcgtgga
3181 agaggtgttt gagaaccaga cccggcttcc cggaggccag tggatctaca tgagtgacaa
3241 ctacaccgat gtgaacgggg agaaggtgct tcccaaggat gacattgagt gcccactggg
3301 ctggaagtgg gaagatgagg aatggtccac agacctcaac cgggctgtcg atgagcaagg
3361 ctgggagtat agcatcacca tccccccgga gcggaagccg aagcactggg tccctgctga
3421 gaagatgtac tacacacacc gacggcggcg ctgggtgcgc ctgcgcagga gggatctcag
3481 ccaaatggaa gcactgaaaa ggcacaggca ggcggaggcg gagggcgagg gctgggagta
3541 cgcctctctt tttggctgga agttccacct cgagtaccgc aagacagatg ccttccgccg
3601 ccgccgctgg cgccgtcgca tggagccact ggagaagacg gggcctgcag ctgtgtttgc
3661 ccttgagggg gccctgggcg gcgtgatgga tgacaagagt gaagattcca tgtccgtctc
3721 caccttgagc ttcggtgtga acagacccac gatttcctgc atattcgact atgggaaccg
3781 ctaccatcta cgctgctaca tgtaccaggc ccgggacctg gctgcgatgg acaaggactc
3841 tttttctgat ccctatgcca tcgtctcctt cctgcaccag agccagaaga cggtggtggt
3901 gaagaacacc cttaacccca cctgggacca gacgctcatc ttctacgaga tcgagatctt
3961 tggcgagccg gccacagttg ctgagcaacc gcccagcatt gtggtggagc tgtacgacca
4021 tgacacttat ggtgcagacg agtttatggg tcgctgcatc tgtcaaccga gtctggaacg
4081 gatgccacgg ctggcctggt tcccactgac gaggggcagc cagccgtcgg gggagctgct
4141 ggcctctttt gagctcatcc agagagagaa gccggccatc caccatattc ctggttttga
4201 ggtgcaggag acatcaagga tcctggatga gtctgaggac acagacctgc cctacccacc
4261 accccagagg gaggccaaca tctacatggt tcctcagaac atcaagccag cgctccagcg
4321 taccgccatc gagatcctgg catggggcct gcggaacatg aagagttacc agctggccaa
4381 catctcctcc cccagcctcg tggtagagtg tgggggccag acggtgcagt cctgtgtcat
4441 caggaacctc cggaagaacc ccaactttga catctgcacc ctcttcatgg aagtgatgct
4501 gcccagggag gagctctact gcccccccat caccgtcaag gtcatcgata accgccagtt
4561 tggccgccgg cctgtggtgg gccagtgtac catccgctcc ctggagagct tcctgtgtga
4621 cccctactcg gcggagagtc catccccaca gggtggccca gacgatgtga gcctactcag
4681 tcctggggaa gacgtgctca tcgacattga tgacaaggag cccctcatcc ccatccagga
4741 ggaagagttc atcgattggt ggagcaaatt ctttgcctcc ataggggaga gggaaaagtg
4801 cggctcctac ctggagaagg attttgacac cctgaaggtc tatgacacac agctggagaa
4861 tgtggaggcc tttgagggcc tgtctgactt ttgtaacacc ttcaagctgt accggggcaa
4921 gacgcaggag gagacagaag atccatctgt gattggtgaa tttaagggcc tcttcaaaat
4981 ttatcccctc ccagaagacc cagccatccc catgccccca agacagttcc accagctggc
5041 cgcccaggga ccccaggagt gcttggtccg tatctacatt gtccgagcat ttggcctgca
5101 gcccaaggac cccaatggaa agtgtgatcc ttacatcaag atctccatag ggaagaaatc
5161 agtgagtgac caggataact acatcccctg cacgctggag cccgtatttg gaaagatgtt
5221 cgagctgacc tgcactctgc ctctggagaa ggacctaaag atcactctct atgactatga
5281 cctcctctcc aaggacgaaa agatcggtga gacggtcgtc gacctggaga acaggctgct
5341 gtccaagttt ggggctcgct gtggactccc acagacctac tgtgtctctg gaccgaacca
5401 gtggcgggac cagctccgcc cctcccagct cctccacctc ttctgccagc agcatagagt
5461 caaggcacct gtgtaccgga cagaccgtgt aatgtttcag gataaagaat attccattga
5521 agagatagag gctggcagga tcccaaaccc acacctgggc ccagtggagg agcgtctggc
5581 tctgcatgtg cttcagcagc agggcctggt cccggagcac gtggagtcac ggcccctcta
5641 cagccccctg cagccagaca tcgagcaggg gaagctgcag atgtgggtcg acctatttcc
5701 gaaggccctg gggcggcctg gacctccctt caacatcacc ccacggagag ccagaaggtt
5761 tttcctgcgt tgtattatct ggaataccag agatgtgatc ctggatgacc tgagcctcac
5821 gggggagaag atgagcgaca tttatgtgaa aggttggatg attggctttg aagaacacaa
5881 gcaaaagaca gacgtgcatt atcgttccct gggaggtgaa ggcaacttca actggaggtt
5941 cattttcccc ttcgactacc tgccagctga gcaagtctgt accattgcca agaaggatgc
6001 cttctggagg ctggacaaga ctgagagcaa aatcccagca cgagtggtgt tccagatctg
6061 ggacaatgac aagttctcct ttgatgattt tctgggctcc ctgcagctcg atctcaaccg
6121 catgcccaag ccagccaaga cagccaagaa gtgctccttg gaccagctgg atgatgcttt
6181 ccacccagaa tggtttgtgt ccctttttga gcagaaaaca gtgaagggct ggtggccctg
6241 tgtagcagaa gagggtgaga agaaaatact ggcgggcaag ctggaaatga ccttggagat
6301 tgtagcagag agtgagcatg aggagcggcc tgctggccag ggccgggatg agcccaacat
6361 gaaccctaag cttgaggacc caaggcgccc cgacacctcc ttcctgtggt ttacctcccc
6421 atacaagacc atgaagttca tcctgtggcg gcgtttccgg tgggccatca tcctcttcat
6481 catcctcttc atcctgctgc tgttcctggc catcttcatc tacgccttcc cgaactatgc
6541 tgccatgaag ctggtgaagc ccttcagctg aggactctcc tgccctgtag aaggggccgt
6601 ggggtcccct ccagcatggg actggcctgc ctcctccgcc cagctcggcg agctcctcca
6661 gacctcctag gcctgattgt cctgccaggg tgggcagaca gacagatgga ccggcccaca
6721 ctcccag
//