LOCUS EU515165 6564 bp mRNA linear HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant V1_6 (DYSF) mRNA, complete cds,
alternatively spliced.
ACCESSION EU515165
VERSION EU515165.1
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 6564)
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 6564)
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JOURNAL Unpublished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 6564)
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..6564
/db_xref="H-InvDB:HIT000485001"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6564
/gene="DYSF"
CDS 142..6408
/gene="DYSF"
/note="alternatively spliced"
/codon_start=1
/product="dysferlin variant V1_6"
/protein_id="ACB12762.1"
/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
LSPGEDVLIDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEEEFIDWWSKFFASIG
EREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGE
FKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPY
IKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIG
ETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRT
DRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQP
DIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEK
MSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAF
WRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDA
FHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDE
PNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYA
FPNYAAMKLVKPFS"
BASE COUNT 1448 a 1911 c 1902 g 1303 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 agcttgcaga cggtctgtcg agcttggccc ccactaacac ggcttctcct
4561 ccatccagtc ctcatgagga agagttcatc gattggtgga gcaaattctt tgcctccata
4621 ggggagaggg aaaagtgcgg ctcctacctg gagaaggatt ttgacacctt gaaggtctat
4681 gacacacagc tggagaatgt ggaggccttt gagggcctgt ctgacttttg taacaccttc
4741 aagctgtacc ggggcaagac gcaggaggag acagaagatc catctgtgat tggtgaattt
4801 aagggcctct tcaaaattta tcccctccca gaagacccag ccatccccat gcccccaaga
4861 cagttccacc agctggccgc ccagggaccc caggagtgct tggtccgtat ctacattgtc
4921 cgagcatttg gcctgcagcc caaggacccc aatggaaagt gtgatcctta catcaagatc
4981 tccataggga agaaatcagt gagtgaccag gataactaca tcccctgcac gctggagccc
5041 gtatttggaa agatgttcga gctgacctgc actctgcctc tggagaagga cctaaagatc
5101 actctctatg actatgacct cctctccaag gacgaaaaga tcggtgagac ggtcgtcgac
5161 ctggagaaca ggctgctgtc caagtttggg gctcgctgtg gactcccaca gacctactgt
5221 gtctctggac cgaaccagtg gcgggaccag ctccgcccct cccagctcct ccacctcttc
5281 tgccagcagc atagagtcaa ggcacctgtg taccggacag accgtgtaat gtttcaggat
5341 aaagaatatt ccattgaaga gatagaggct ggcaggatcc caaacccaca cctgggccca
5401 gtggaggagc gtctggctct gcatgtgctt cagcagcagg gcctggtccc ggagcacgtg
5461 gagtcacggc ccctctacag ccccctgcag ccagacatcg agcaggggaa gctgcagatg
5521 tgggtcgacc tatttccgaa ggccctgggg cggcctggac ctcccttcaa catcacccca
5581 cggagagcca gaaggttttt cctgcgttgt attatctgga ataccagaga tgtgatcctg
5641 gatgacctga gcctcacggg ggagaagatg agcgacattt atgtgaaagg ttggatgatt
5701 ggctttgaag aacacaagca aaagacagac gtgcattatc gttccctggg aggtgaaggc
5761 aacttcaact ggaggttcat tttccccttc gactacctgc cagctgagca agtctgtacc
5821 attgccaaga aggatgcctt ctggaggctg gacaagactg agagcaaaat cccagcacga
5881 gtggtgttcc agatctggga caatgacaag ttctcctttg atgattttct gggctccctg
5941 cagctcgatc tcaaccgcat gcccaagcca gccaagacag ccaagaagtg ctccttggac
6001 cagctggatg atgctttcca cccagaatgg tttgtgtccc tttttgagca gaaaacagtg
6061 aagggctggt ggccctgtgt agcagaagag ggtgagaaga aaatactggc gggcaagctg
6121 gaaatgacct tggagattgt agcagagagt gagcatgagg agcggcctgc tggccagggc
6181 cgggatgagc ccaacatgaa ccctaagctt gaggacccaa ggcgccccga cacctccttc
6241 ctgtggttta cctccccata caagaccatg aagttcatcc tgtggcggcg tttccggtgg
6301 gccatcatcc tcttcatcat cctcttcatc ctgctgctgt tcctggccat cttcatctac
6361 gccttcccga actatgctgc catgaagctg gtgaagccct tcagctgagg actctcctgc
6421 cctgtagaag gggccgtggg gtcccctcca gcatgggact ggcctgcctc ctccgcccag
6481 ctcggcgagc tcctccagac ctcctaggcc tgattgtcct gccagggtgg gcagacagac
6541 agatggaccg gcccacactc ccag
//