LOCUS EU515162 6501 bp mRNA linear HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant V1_3 (DYSF) mRNA, complete cds,
alternatively spliced.
ACCESSION EU515162
VERSION EU515162.1
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 6501)
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 6501)
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JOURNAL Unpublished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 6501)
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..6501
/db_xref="H-InvDB:HIT000484998"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6501
/gene="DYSF"
CDS 142..6345
/gene="DYSF"
/note="alternatively spliced"
/codon_start=1
/product="dysferlin variant V1_3"
/protein_id="ACB12759.1"
/translation="MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVN
PVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASF
NAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEED
TEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKP
QDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPG
ELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGA
RGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDL
PQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLP
AMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEVDDYLGFLPTFGPC
YINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADD
ILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQY
SRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLA
LKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITE
AALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPA
HQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQ
FAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWA
GDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDD
IECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWV
RLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPL
EKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMY
QARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATV
AEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFE
LIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTA
IEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVML
PREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSL
LSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDT
QLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPR
QFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTL
EPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLP
QTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIP
NPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRP
GPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTD
VHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDN
DKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPC
VAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFT
SPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS"
BASE COUNT 1438 a 1886 c 1890 g 1287 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 gacacaggag gagaggaaga cacagaggac cagggactca ctggagatga ggcggagcca
661 ttcctggatc aaagcggagg cccgggggct cccaccaccc caaggaaact accttcacgt
721 cctccgcccc actaccccgg gatcaaaaga aagcgaagtg cgcctacatc tagaaagctg
781 ctgtcagaca aaccgcagga tttccagatc agggtccagg tgatcgaggg gcgccagctg
841 ccgggggtga acatcaagcc tgtggtcaag gttaccgctg cagggcagac caagcggacg
901 cggatccaca agggaaacag cccactcttc aatgagactc ttttcttcaa cttgtttgac
961 tctcctgggg agctgtttga tgagcccatc tttatcacgg tggtagactc tcgttctctc
1021 aggacagatg ctctcctcgg ggagttccgg atggacgtgg gcaccattta cagagagccc
1081 cggcacgcct atctcaggaa gtggctgctg ctctcagacc ctgatgactt ctctgctggg
1141 gccagaggct acctgaaaac aagcctttgt gtgctggggc ctggggacga agcgcctctg
1201 gagagaaaag acccctctga agacaaggag gacattgaaa gcaacctgct ccggcccaca
1261 ggcgtagccc tgcgaggagc ccacttctgc ctgaaggtct tccgggccga ggacttgccg
1321 cagatggacg atgccgtgat ggacaacgtg aaacagatct ttggcttcga gagtaacaag
1381 aagaacttgg tggacccctt tgtggaggtc agctttgcgg ggaaaatgct gtgcagcaag
1441 atcttggaga agacggccaa ccctcagtgg aaccagaaca tcacactgcc tgccatgttt
1501 ccctccatgt gcgaaaaaat gaggattcgt atcatagact gggaccgcct gactcacaat
1561 gacatcgtgg ctaccaccta cctgagtatg tcgaaaatct ctgcccctgg aggagaaata
1621 gaagtggatg actacctggg cttcctcccc acttttgggc cctgctacat caacctctat
1681 ggcagtccca gagagttcac aggcttccca gacccctaca cagagctcaa cacaggcaag
1741 ggggaaggtg tggcttatcg tggccggctt ctgctctccc tggagaccaa gctggtggag
1801 cacagtgaac agaaggtgga ggaccttcct gcggatgaca tcctccgggt ggagaagtac
1861 cttaggaggc gcaagtactc cctgtttgcg gccttctact cagccaccat gctgcaggat
1921 gtggatgacg ccatccagtt tgaggtcagc atcgggaact acgggaacaa gttcgacatg
1981 acctgcctgc cgctggcctc caccactcag tacagccgtg cagtctttga cgggtgccac
2041 tactactacc taccctgggg taacgtgaaa cctgtggtgg tgctgtcatc ctactgggag
2101 gacatcagcc atagaatcga gactcagaac cagctgcttg ggattgctga ccggctggaa
2161 gctggcctgg agcaggtcca cctggccctg aaggcgcagt gctccacgga ggacgtggac
2221 tcgctggtgg ctcagctgac ggatgagctc atcgcaggct gcagccagcc tctgggtgac
2281 atccatgaga caccctctgc cacccacctg gaccagtacc tgtaccagct gcgcacccat
2341 cacctgagcc aaatcactga ggctgccctg gccctgaagc tcggccacag tgagctccct
2401 gcagctctgg agcaggcgga ggactggctc ctgcgtctgc gtgccctggc agaggagccc
2461 cagaacagcc tgccggacat cgtcatctgg atgctgcagg gagacaagcg tgtggcatac
2521 cagcgggtgc ccgcccacca agtcctcttc tcccggcggg gtgccaacta ctgtggcaag
2581 aattgtggga agctacagac aatctttctg aaatatccga tggagaaggt gcctggcgcc
2641 cggatgccag tgcagatacg ggtcaagctg tggtttgggc tctctgtgga tgagaaggag
2701 ttcaaccagt ttgctgaggg gaagctgtct gtctttgctg aaacctatga gaacgagact
2761 aagttggccc ttgttgggaa ctggggcaca acgggcctca cctaccccaa gttttctgac
2821 gtcacgggca agatcaagct acccaaggac agcttccgcc cctcggccgg ctggacctgg
2881 gctggagatt ggttcgtgtg tccggagaag actctgctcc atgacatgga cgccggtcac
2941 ctgagcttcg tggaagaggt gtttgagaac cagacccggc ttcccggagg ccagtggatc
3001 tacatgagtg acaactacac cgatgtgaac ggggagaagg tgcttcccaa ggatgacatt
3061 gagtgcccac tgggctggaa gtgggaagat gaggaatggt ccacagacct caaccgggct
3121 gtcgatgagc aaggctggga gtatagcatc accatccccc cggagcggaa gccgaagcac
3181 tgggtccctg ctgagaagat gtactacaca caccgacggc ggcgctgggt gcgcctgcgc
3241 aggagggatc tcagccaaat ggaagcactg aaaaggcaca ggcaggcgga ggcggagggc
3301 gagggctggg agtacgcctc tctttttggc tggaagttcc acctcgagta ccgcaagaca
3361 gatgccttcc gccgccgccg ctggcgccgt cgcatggagc cactggagaa gacggggcct
3421 gcagctgtgt ttgcccttga gggggccctg ggcggcgtga tggatgacaa gagtgaagat
3481 tccatgtccg tctccacctt gagcttcggt gtgaacagac ccacgatttc ctgcatattc
3541 gactatggga accgctacca tctacgctgc tacatgtacc aggcccggga cctggctgcg
3601 atggacaagg actctttttc tgatccctat gccattgtct ccttcctgca ccagagccag
3661 aagacggtgg tggtgaagaa cacccttaac cccacctggg accagacgct catcttctac
3721 gagatcgaga tctttggcga gccggccaca gttgctgagc aaccgcccag cattgtggtg
3781 gagctgtacg accatgacac ttatggtgca gacgagttta tgggtcgctg catctgtcaa
3841 ccgagtctgg aacggatgcc acggctggcc tggttcccac tgacgagggg cagccagccg
3901 tcgggggagc tgctggcctc ttttgagctc atccagagag agaagccggc catccaccat
3961 attcctggtt ttgaggtgca ggagacatca aggatcctgg atgagtctga ggacacagac
4021 ctgccctacc caccacccca gagggaggcc aacatctaca tggttcctca gaacatcaag
4081 ccagcgctcc agcgtaccgc catcgagata ctggcatggg gcctgcggaa catgaagagt
4141 taccagctgg ccaacatctc ctcccccagc ctcgtggtag agtgtggggg ccagacggtg
4201 cagtcctgtg tcatcaggaa cctccggaag aaccccaact ttgacatctg caccctcttc
4261 atggaagtga tgctgcccag ggaggagctc tactgccccc ccatcaccgt caaggtcatc
4321 gataaccgcc agtttggccg ccggcctgtg gtgggccagt gtaccatccg ctccctggag
4381 agcttcctgt gtgaccccta ctcggcggag agtccatccc cacagggtgg cccagacgat
4441 gtgagcctac tcagtcctgg ggaagacgtg ctcatcgaca ttgatgacaa ggagcccctc
4501 atccccatcc aggaggaaga gttcatcgat tggtggagca aattctttgc ctccataggg
4561 gagagggaaa agtgcggctc ctacctggag aaggattttg acaccttgaa ggtctatgac
4621 acacagctgg agaatgtgga ggcctttgag ggcctgtctg acttttgtaa caccttcaag
4681 ctgtaccggg gcaagacgca ggaggagaca gaagatccat ctgtgattgg tgaatttaag
4741 ggcctcttca aaatttatcc cctcccagaa gacccagcca tccccatgcc cccaagacag
4801 ttccaccagc tggccgccca gggaccccag gagtgcttgg tccgtatcta cattgtccga
4861 gcatttggcc tgcagcccaa ggaccccaat ggaaagtgtg atccttacat caagatctcc
4921 atagggaaga aatcagtgag tgaccaggat aactacatcc cctgcacgct ggagcccgta
4981 tttggaaaga tgttcgagct gacctgcact ctgcctctgg agaaggacct aaagatcact
5041 ctctatgact atgacctcct ctccaaggac gaaaagatcg gtgagacggt cgtcgacctg
5101 gagaacaggc tgctgtccaa gtttggggct cgctgtggac tcccacagac ctactgtgtc
5161 tctggaccga accagtggcg ggaccagctc cgcccctccc agctcctcca cctcttctgc
5221 cagcagcata gagtcaaggc acctgtgtac cggacagacc gtgtaatgtt tcaggataaa
5281 gaatattcca ttgaagagat agaggctggc aggatcccaa acccacacct gggcccagtg
5341 gaggagcgtc tggctctgca tgtgcttcag cagcagggcc tggtcccgga gcacgtggag
5401 tcacggcccc tctacagccc cctgcagcca gacatcgagc aggggaagct gcagatgtgg
5461 gtcgacctat ttccgaaggc cctggggcgg cctggacctc ccttcaacat caccccacgg
5521 agagccagaa ggtttttcct gcgttgtatt atctggaata ccagagatgt gatcctggat
5581 gacctgagcc tcacggggga gaagatgagc gacatttatg tgaaaggttg gatgattggc
5641 tttgaagaac acaagcaaaa gacagacgtg cattatcgtt ccctgggagg tgaaggcaac
5701 ttcaactgga ggttcatttt ccccttcgac tacctgccag ctgagcaagt ctgtaccatt
5761 gccaagaagg atgccttctg gaggctggac aagactgaga gcaaaatccc agcacgagtg
5821 gtgttccaga tctgggacaa tgacaagttc tcctttgatg attttctggg ctccctgcag
5881 ctcgatctca accgcatgcc caagccagcc aagacagcca agaagtgctc cttggaccag
5941 ctggatgatg ctttccaccc agaatggttt gtgtcccttt ttgagcagaa aacagtgaag
6001 ggctggtggc cctgtgtagc agaagagggt gagaagaaaa tactggcggg caagctggaa
6061 atgaccttgg agattgtagc agagagtgag catgaggagc ggcctgctgg ccagggccgg
6121 gatgagccca acatgaaccc taagcttgag gacccaaggc gccccgacac ctccttcctg
6181 tggtttacct ccccatacaa gaccatgaag ttcatcctgt ggcggcgttt ccggtgggcc
6241 atcatcctct tcatcatcct cttcatcctg ctgctgttcc tggccatctt catctacgcc
6301 ttcccgaact atgctgccat gaagctggtg aagcccttca gctgaggact ctcctgccct
6361 gtagaagggg ccgtggggtc ccctccagca tgggactggc ctgcctcctc cgcccagctc
6421 ggcgagctcc tccagacctc ctaggcctga ttgtcctgcc agggtgggca gacagacaga
6481 tggaccggcc cacactccca g
//