LOCUS EU515164 6594 bp mRNA linear HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant V1_5 (DYSF) mRNA, complete cds,
alternatively spliced.
ACCESSION EU515164
VERSION EU515164.1
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 6594)
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 6594)
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JOURNAL Unpublished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 6594)
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..6594
/db_xref="H-InvDB:HIT000485000"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6594
/gene="DYSF"
CDS 142..6438
/gene="DYSF"
/note="alternatively spliced"
/codon_start=1
/product="dysferlin variant V1_5"
/protein_id="ACB12761.1"
/translation="MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVN
PVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASF
NAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRA
ETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTP
RKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVT
AAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFR
MDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED
KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDP
FVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVA
TTYLSMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGE
GVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQD
VDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSY
WEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQ
PLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLR
ALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKY
PMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGT
TGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVF
ENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGW
EYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWE
YASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSM
SVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQ
KTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCI
CQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDES
EDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVE
CGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVG
QCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFID
WWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQE
ETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQP
KDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDY
DLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQ
HRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVE
SRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVI
LDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQ
VCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAK
KCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHE
ERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFIL
LLFLAIFIYAFPNYAAMKLVKPFS"
BASE COUNT 1459 a 1914 c 1923 g 1298 t
ORIGIN
1 tctccgcgga ggagcagcga aggcgacagc tctcttggcg cggctgcctg ggagccgggc
61 gcttgctggg tgggtgctcg ggcccggtgc tcccgctccc gccctgactg cgcgcctgtg
121 tgccgccggg gctgcccagc catgctgtgc tgcctgctgg tgagggccag caacctcccc
181 agtgcgaaga aggaccggcg cagcgaccct gtcgcaagcc tgactttccg aggggtgaag
241 aagagaacca aagtcatcaa gaacagcgtg aaccctgtat ggaatgaggg atttgaatgg
301 gacctcaagg gcatccccct ggaccagggc tctgagcttc atgtggtggt caaagaccat
361 gagacgatgg ggaggaacag gttcctgggg gaagccaagg tcccactccg agaggtcctc
421 gccaccccta gtctgtccgc cagcttcaat gcccccctgc tggacaccaa gaagcagccc
481 acaggggcct cgctggtcct gcaggtgtcc tacacaccgc tgcctggagc tgtgcccctg
541 ttcccgcccc ctactcctct ggagccctcc ccgactctgc ctgacctgga tgtagtggca
601 ggcgggggac agagccgggc cgagacttgg tccctgctca gtgacagcac catggacacg
661 agatactctg gaaagaagtg gccggccccc acggacacag gaggagagga agacacagag
721 gaccagggac tcactggaga tgaggcggag ccattcctgg atcaaagcgg aggcccgggg
781 gctcccacca ccccaaggaa actaccttca cgtcctccgc cccactaccc cgggatcaaa
841 agaaagcgaa gtgcgcctac atctagaaag ctgctgtcag acaaaccgca ggatttccag
901 atcagggtcc aggtgatcga ggggcgccag ctgccggggg tgaacatcaa gcctgtggtc
961 aaggttaccg ctgcagggca gaccaagcgg acgcggatcc acaagggaaa cagcccactc
1021 ttcaatgaga ctcttttctt caacttgttt gactctcctg gggagctgtt tgatgagccc
1081 atctttatca cggtggtaga ctctcgttct ctcaggacag atgctctcct cggggagttc
1141 cggatggacg tgggcaccat ttacagagag ccccggcacg cctatctcag gaagtggctg
1201 ctgctctcag accctgatga cttctctgct ggggccagag gctacctgaa aacaagcctt
1261 tgtgtgctgg ggcctgggga cgaagcgcct ctggagagaa aagacccctc tgaagacaag
1321 gaggacattg aaagcaacct gctccggccc acaggcgtag ccctgcgagg agcccacttc
1381 tgcctgaagg tcttccgggc cgaggacttg ccgcagatgg acgatgccgt gatggacaac
1441 gtgaaacaga tctttggctt cgagagtaac aagaagaact tggtggaccc ctttgtggag
1501 gtcagctttg cggggaaaat gctgtgcagc aagatcttgg agaagacggc caaccctcag
1561 tggaaccaga acatcacact gcctgccatg tttccctcca tgtgcgaaaa aatgaggatt
1621 cgtatcatag actgggaccg cctgactcac aatgacatcg tggctaccac ctacctgagt
1681 atgtcgaaaa tctctgcccc tggaggagaa atagaagtgg atgactacct gggcttcctc
1741 cccacttttg ggccctgcta catcaacctc tatggcagtc ccagagagtt cacaggcttc
1801 ccagacccct acacagagct caacacaggc aagggggaag gtgtggctta tcgtggccgg
1861 cttctgctct ccctggagac caagctggtg gagcacagtg aacagaaggt ggaggacctt
1921 cctgcggatg acatcctccg ggtggagaag taccttagga ggcgcaagta ctccctgttt
1981 gcggccttct actcagccac catgctgcag gatgtggatg acgccatcca gtttgaggtc
2041 agcatcggga actacgggaa caagttcgac atgacctgcc tgccgctggc ctccaccact
2101 cagtacagcc gtgcagtctt tgacgggtgc cactactact acctaccctg gggtaacgtg
2161 aaacctgtgg tggtgctgtc atcctactgg gaggacatca gccatagaat cgagactcag
2221 aaccagctgc ttgggattgc tgaccggctg gaagctggcc tggagcaggt ccacctggcc
2281 ctgaaggcgc agtgctccac ggaggacgtg gactcgctgg tggctcagct gacggatgag
2341 ctcatcgcag gctgcagcca gcctctgggt gacatccatg agacaccctc tgccacccac
2401 ctggaccagt acctgtacca gctgcgcacc catcacctga gccaaatcac tgaggctgcc
2461 ctggccctga agctcggcca cagtgagctc cctgcagctc tggagcaggc ggaggactgg
2521 ctcctgcgtc tgcgtgccct ggcagaggag ccccagaaca gcctgccgga catcgtcatc
2581 tggatgctgc agggagacaa gcgtgtggca taccagcggg tgcccgccca ccaagtcctc
2641 ttctcccggc ggggtgccaa ctactgtggc aagaattgtg ggaagctaca gacaatcttt
2701 ctgaaatatc cgatggagaa ggtgcctggc gcccggatgc cagtgcagat acgggtcaag
2761 ctgtggtttg ggctctctgt ggatgagaag gagttcaacc agtttgctga ggggaagctg
2821 tctgtctttg ctgaaaccta tgagaacgag actaagttgg cccttgttgg gaactggggc
2881 acaacgggcc tcacctaccc caagttttct gacgtcacgg gcaagatcaa gctacccaag
2941 gacagcttcc gcccctcggc cggctggacc tgggctggag attggttcgt gtgtccggag
3001 aagactctgc tccatgacat ggacgccggt cacctgagct tcgtggaaga ggtgtttgag
3061 aaccagaccc ggcttcccgg aggccagtgg atctacatga gtgacaacta caccgatgtg
3121 aacggggaga aggtgcttcc caaggatgac attgagtgcc cactgggctg gaagtgggaa
3181 gatgaggaat ggtccacaga cctcaaccgg gctgtcgatg agcaaggctg ggagtatagc
3241 atcaccatcc ccccggagcg gaagccgaag cactgggtcc ctgctgagaa gatgtactac
3301 acacaccgac ggcggcgctg ggtgcgcctg cgcaggaggg atctcagcca aatggaagca
3361 ctgaaaaggc acaggcaggc ggaggcggag ggcgagggct gggagtacgc ctctcttttt
3421 ggctggaagt tccacctcga gtaccgcaag acagatgcct tccgccgccg ccgctggcgc
3481 cgtcgcatgg agccactgga gaagacgggg cctgcagctg tgtttgccct tgagggggcc
3541 ctgggcggcg tgatggatga caagagtgaa gattccatgt ccgtctccac cttgagcttc
3601 ggtgtgaaca gacccacgat ttcctgcata ttcgactatg ggaaccgcta ccatctacgc
3661 tgctacatgt accaggcccg ggacctggct gcgatggaca aggactcttt ttctgatccc
3721 tatgccattg tctccttcct gcaccagagc cagaagacgg tggtggtgaa gaacaccctt
3781 aaccccacct gggaccagac gctcatcttc tacgagatcg agatctttgg cgagccggcc
3841 acagttgctg agcaaccgcc cagcattgtg gtggagctgt acgaccatga cacttatggt
3901 gcagacgagt ttatgggtcg ctgcatctgt caaccgagtc tggaacggat gccacggctg
3961 gcctggttcc cactgacgag gggcagccag ccgtcggggg agctgctggc ctcttttgag
4021 ctcatccaga gagagaagcc ggccatccac catattcctg gttttgaggt gcaggagaca
4081 tcaaggatcc tggatgagtc tgaggacaca gacctgccct acccaccacc ccagagggag
4141 gccaacatct acatggttcc tcagaacatc aagccagcgc tccagcgtac cgccatcgag
4201 atactggcat ggggcctgcg gaacatgaag agttaccagc tggccaacat ctcctccccc
4261 agcctcgtgg tagagtgtgg gggccagacg gtgcagtcct gtgtcatcag gaacctccgg
4321 aagaacccca actttgacat ctgcaccctc ttcatggaag tgatgctgcc cagggaggag
4381 ctctactgcc cccccatcac cgtcaaggtc atcgataacc gccagtttgg ccgccggcct
4441 gtggtgggcc agtgtaccat ccgctccctg gagagcttcc tgtgtgaccc ctactcggcg
4501 gagagtccat ccccacaggg tggcccagac gatgtgagcc tactcagtcc tggggaagac
4561 gtgctcatcg acattgatga caaggagccc ctcatcccca tccaggagga agagttcatc
4621 gattggtgga gcaaattctt tgcctccata ggggagaggg aaaagtgcgg ctcctacctg
4681 gagaaggatt ttgacacctt gaaggtctat gacacacagc tggagaatgt ggaggccttt
4741 gagggcctgt ctgacttttg taacaccttc aagctgtacc ggggcaagac gcaggaggag
4801 acagaagatc catctgtgat tggtgaattt aagggcctct tcaaaattta tcccctccca
4861 gaagacccag ccatccccat gcccccaaga cagttccacc agctggccgc ccagggaccc
4921 caggagtgct tggtccgtat ctacattgtc cgagcatttg gcctgcagcc caaggacccc
4981 aatggaaagt gtgatcctta catcaagatc tccataggga agaaatcagt gagtgaccag
5041 gataactaca tcccctgcac gctggagccc gtatttggaa agatgttcga gctgacctgc
5101 actctgcctc tggagaagga cctaaagatc actctctatg actatgacct cctctccaag
5161 gacgaaaaga tcggtgagac ggtcgtcgac ctggagaaca ggctgctgtc caagtttggg
5221 gctcgctgtg gactcccaca gacctactgt gtctctggac cgaaccagtg gcgggaccag
5281 ctccgcccct cccagctcct ccacctcttc tgccagcagc atagagtcaa ggcacctgtg
5341 taccggacag accgtgtaat gtttcaggat aaagaatatt ccattgaaga gatagaggct
5401 ggcaggatcc caaacccaca cctgggccca gtggaggagc gtctggctct gcatgtgctt
5461 cagcagcagg gcctggtccc ggagcacgtg gagtcacggc ccctctacag ccccctgcag
5521 ccagacatcg agcaggggaa gctgcagatg tgggtcgacc tatttccgaa ggccctgggg
5581 cggcctggac ctcccttcaa catcacccca cggagagcca gaaggttttt cctgcgttgt
5641 attatctgga ataccagaga tgtgatcctg gatgacctga gcctcacggg ggagaagatg
5701 agcgacattt atgtgaaagg ttggatgatt ggctttgaag aacacaagca aaagacagac
5761 gtgcattatc gttccctggg aggtgaaggc aacttcaact ggaggttcat tttccccttc
5821 gactacctgc cagctgagca agtctgtacc attgccaaga aggatgcctt ctggaggctg
5881 gacaagactg agagcaaaat cccagcacga gtggtgttcc agatctggga caatgacaag
5941 ttctcctttg atgattttct gggctccctg cagctcgatc tcaaccgcat gcccaagcca
6001 gccaagacag ccaagaagtg ctccttggac cagctggatg atgctttcca cccagaatgg
6061 tttgtgtccc tttttgagca gaaaacagtg aagggctggt ggccctgtgt agcagaagag
6121 ggtgagaaga aaatactggc gggcaagctg gaaatgacct tggagattgt agcagagagt
6181 gagcatgagg agcggcctgc tggccagggc cgggatgagc ccaacatgaa ccctaagctt
6241 gaggacccaa ggcgccccga cacctccttc ctgtggttta cctccccata caagaccatg
6301 aagttcatcc tgtggcggcg tttccggtgg gccatcatcc tcttcatcat cctcttcatc
6361 ctgctgctgt tcctggccat cttcatctac gccttcccga actatgctgc catgaagctg
6421 gtgaagccct tcagctgagg actctcctgc cctgtagaag gggccgtggg gtcccctcca
6481 gcatgggact ggcctgcctc ctccgcccag ctcggcgagc tcctccagac ctcctaggcc
6541 tgattgtcct gccagggtgg gcagacagac agatggaccg gcccacactc ccag
//