LOCUS DQ267935 6543 bp mRNA linear HUM 20-SEP-2006
DEFINITION Homo sapiens dysferlin_v1 (DYSF) mRNA, complete cds.
ACCESSION DQ267935
VERSION DQ267935.1
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 6543)
AUTHORS Pramono,Z.A., Lai,P.S., Tan,C.L., Takeda,S. and Yee,W.C.
TITLE Identification and characterization of a novel human dysferlin
transcript: dysferlin_v1
JOURNAL Hum. Genet. 120 (3), 410-419 (2006)
PUBMED 16896923
REFERENCE 2 (bases 1 to 6543)
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 (27-OCT-2005) Research, National Neuroscience Institute,
11 Jalan Tan Tock Seng, Singapore 308433, Singapore
FEATURES Location/Qualifiers
source 1..6543
/db_xref="H-InvDB:HIT000391821"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6543
/gene="DYSF"
CDS 142..6387
/gene="DYSF"
/note="DYSF_v1"
/codon_start=1
/product="dysferlin_v1"
/protein_id="ABB89736.1"
/translation="MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVN
PVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASF
NAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEED
TEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKP
QDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPG
ELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGA
RGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDL
PQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLP
AMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASD
LDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLV
EHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNK
FDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGI
ADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQY
LYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWM
LQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVK
LWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKL
PKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDN
YTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVP
AEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTD
AFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCI
FDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTL
IFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLT
RGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIY
MVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKN
PNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSA
ESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGS
YLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKI
YPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGK
KSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLE
NRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQD
KEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKL
QMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVK
GWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTE
SKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFV
SLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKL
EDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAM
KLVKPFS"
BASE COUNT 1448 a 1898 c 1902 g 1295 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 gaagaggagc ctgcaggtgc tgtcaagcct tcgaaagcct cagacttgga tgactacctg
1681 ggcttcctcc ccacttttgg gccctgctac atcaacctct atggcagtcc cagagagttc
1741 acaggcttcc cagaccccta cacagagctc aacacaggca agggggaagg tgtggcttat
1801 cgtggccggc ttctgctctc cctggagacc aagctggtgg agcacagtga acagaaggtg
1861 gaggaccttc ctgcggatga catcctccgg gtggagaagt accttaggag gcgcaagtac
1921 tccctgtttg cggccttcta ctcagccacc atgctgcagg atgtggatga cgccatccag
1981 tttgaggtca gcatcgggaa ctacgggaac aagttcgaca tgacctgcct gccgctggcc
2041 tccaccactc agtacagccg tgcagtcttt gacgggtgcc actactacta cctaccctgg
2101 ggtaacgtga aacctgtggt ggtgctgtca tcctactggg aggacatcag ccatagaatc
2161 gagactcaga accagctgct tgggattgct gaccggctgg aagctggcct ggagcaggtc
2221 cacctggccc tgaaggcgca gtgctccacg gaggacgtgg actcgctggt ggctcagctg
2281 acggatgagc tcatcgcagg ctgcagccag cctctgggtg acatccatga gacaccctct
2341 gccacccacc tggaccagta cctgtaccag ctgcgcaccc atcacctgag ccaaatcact
2401 gaggctgccc tggccctgaa gctcggccac agtgagctcc ctgcagctct ggagcaggcg
2461 gaggactggc tcctgcgtct gcgtgccctg gcagaggagc cccagaacag cctgccggac
2521 atcgtcatct ggatgctgca gggagacaag cgtgtggcat accagcgggt gcccgcccac
2581 caagtcctct tctcccggcg gggtgccaac tactgtggca agaattgtgg gaagctacag
2641 acaatctttc tgaaatatcc gatggagaag gtgcctggcg cccggatgcc agtgcagata
2701 cgggtcaagc tgtggtttgg gctctctgtg gatgagaagg agttcaacca gtttgctgag
2761 gggaagctgt ctgtctttgc tgaaacctat gagaacgaga ctaagttggc ccttgttggg
2821 aactggggca caacgggcct cacctacccc aagttttctg acgtcacggg caagatcaag
2881 ctacccaagg acagcttccg cccctcggcc ggctggacct gggctggaga ttggttcgtg
2941 tgtccggaga agactctgct ccatgacatg gacgccggtc acctgagctt cgtggaagag
3001 gtgtttgaga accagacccg gcttcccgga ggccagtgga tctacatgag tgacaactac
3061 accgatgtga acggggagaa ggtgcttccc aaggatgaca ttgagtgccc actgggctgg
3121 aagtgggaag atgaggaatg gtccacagac ctcaaccggg ctgtcgatga gcaaggctgg
3181 gagtatagca tcaccatccc cccggagcgg aagccgaagc actgggtccc tgctgagaag
3241 atgtactaca cacaccgacg gcggcgctgg gtgcgcctgc gcaggaggga tctcagccaa
3301 atggaagcac tgaaaaggca caggcaggcg gaggcggagg gcgagggctg ggagtacgcc
3361 tctctttttg gctggaagtt ccacctcgag taccgcaaga cagatgcctt ccgccgccgc
3421 cgctggcgcc gtcgcatgga gccactggag aagacggggc ctgcagctgt gtttgccctt
3481 gagggggccc tgggcggcgt gatggatgac aagagtgaag attccatgtc cgtctccacc
3541 ttgagcttcg gtgtgaacag acccacgatt tcctgcatat tcgactatgg gaaccgctac
3601 catctacgct gctacatgta ccaggcccgg gacctggctg cgatggacaa ggactctttt
3661 tctgatccct atgccattgt ctccttcctg caccagagcc agaagacggt ggtggtgaag
3721 aacaccctta accccacctg ggaccagacg ctcatcttct acgagatcga gatctttggc
3781 gagccggcca cagttgctga gcaaccgccc agcattgtgg tggagctgta cgaccatgac
3841 acttatggtg cagacgagtt tatgggtcgc tgcatctgtc aaccgagtct ggaacggatg
3901 ccacggctgg cctggttccc actgacgagg ggcagccagc cgtcggggga gctgctggcc
3961 tcttttgagc tcatccagag agagaagccg gccatccacc atattcctgg ttttgaggtg
4021 caggagacat caaggatcct ggatgagtct gaggacacag acctgcccta cccaccaccc
4081 cagagggagg ccaacatcta catggttcct cagaacatca agccagcgct ccagcgtacc
4141 gccatcgaga tactggcatg gggcctgcgg aacatgaaga gttaccagct ggccaacatc
4201 tcctccccca gcctcgtggt agagtgtggg ggccagacgg tgcagtcctg tgtcatcagg
4261 aacctccgga agaaccccaa ctttgacatc tgcaccctct tcatggaagt gatgctgccc
4321 agggaggagc tctactgccc ccccatcacc gtcaaggtca tcgataaccg ccagtttggc
4381 cgccggcctg tggtgggcca gtgtaccatc cgctccctgg agagcttcct gtgtgacccc
4441 tactcggcgg agagtccatc cccacagggt ggcccagacg atgtgagcct actcagtcct
4501 ggggaagacg tgctcatcga cattgatgac aaggagcccc tcatccccat ccaggaggaa
4561 gagttcatcg attggtggag caaattcttt gcctccatag gggagaggga aaagtgcggc
4621 tcctacctgg agaaggattt tgacaccttg aaggtctatg acacacagct ggagaatgtg
4681 gaggcctttg agggcctgtc tgacttttgt aacaccttca agctgtaccg gggcaagacg
4741 caggaggaga cagaagatcc atctgtgatt ggtgaattta agggcctctt caaaatttat
4801 cccctcccag aagacccagc catccccatg cccccaagac agttccacca gctggccgcc
4861 cagggacccc aggagtgctt ggtccgtatc tacattgtcc gagcatttgg cctgcagccc
4921 aaggacccca atggaaagtg tgatccttac atcaagatct ccatagggaa gaaatcagtg
4981 agtgaccagg ataactacat cccctgcacg ctggagcccg tatttggaaa gatgttcgag
5041 ctgacctgca ctctgcctct ggagaaggac ctaaagatca ctctctatga ctatgacctc
5101 ctctccaagg acgaaaagat cggtgagacg gtcgtcgacc tggagaacag gctgctgtcc
5161 aagtttgggg ctcgctgtgg actcccacag acctactgtg tctctggacc gaaccagtgg
5221 cgggaccagc tccgcccctc ccagctcctc cacctcttct gccagcagca tagagtcaag
5281 gcacctgtgt accggacaga ccgtgtaatg tttcaggata aagaatattc cattgaagag
5341 atagaggctg gcaggatccc aaacccacac ctgggcccag tggaggagcg tctggctctg
5401 catgtgcttc agcagcaggg cctggtcccg gagcacgtgg agtcacggcc cctctacagc
5461 cccctgcagc cagacatcga gcaggggaag ctgcagatgt gggtcgacct atttccgaag
5521 gccctggggc ggcctggacc tcccttcaac atcaccccac ggagagccag aaggtttttc
5581 ctgcgttgta ttatctggaa taccagagat gtgatcctgg atgacctgag cctcacgggg
5641 gagaagatga gcgacattta tgtgaaaggt tggatgattg gctttgaaga acacaagcaa
5701 aagacagacg tgcattatcg ttccctggga ggtgaaggca acttcaactg gaggttcatt
5761 ttccccttcg actacctgcc agctgagcaa gtctgtacca ttgccaagaa ggatgccttc
5821 tggaggctgg acaagactga gagcaaaatc ccagcacgag tggtgttcca gatctgggac
5881 aatgacaagt tctcctttga tgattttctg ggctccctgc agctcgatct caaccgcatg
5941 cccaagccag ccaagacagc caagaagtgc tccttggacc agctggatga tgctttccac
6001 ccagaatggt ttgtgtccct ttttgagcag aaaacagtga agggctggtg gccctgtgta
6061 gcagaagagg gtgagaagaa aatactggcg ggcaagctgg aaatgacctt ggagattgta
6121 gcagagagtg agcatgagga gcggcctgct ggccagggcc gggatgagcc caacatgaac
6181 cctaagcttg aggacccaag gcgccccgac acctccttcc tgtggtttac ctccccatac
6241 aagaccatga agttcatcct gtggcggcgt ttccggtggg ccatcatcct cttcatcatc
6301 ctcttcatcc tgctgctgtt cctggccatc ttcatctacg ccttcccgaa ctatgctgcc
6361 atgaagctgg tgaagccctt cagctgagga ctctcctgcc ctgtagaagg ggccgtgggg
6421 tcccctccag catgggactg gcctgcctcc tccgcccagc tcggcgagct cctccagacc
6481 tcctaggcct gattgtcctg ccagggtggg cagacagaca gatggaccgg cccacactcc
6541 cag
//