LOCUS EU515157 6739 bp mRNA linear HUM 19-AUG-2010
DEFINITION Homo sapiens dysferlin variant 4 (DYSF) mRNA, complete cds,
alternatively spliced.
ACCESSION EU515157
VERSION EU515157.1
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 6739)
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 6739)
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JOURNAL Unpublished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 6739)
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..6739
/db_xref="H-InvDB:HIT000484993"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..6739
/gene="DYSF"
CDS 278..6583
/gene="DYSF"
/note="alternatively spliced"
/codon_start=1
/product="dysferlin variant 4"
/protein_id="ACB12754.1"
/translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDT
EDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQ
DFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGE
LFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGAR
GYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLP
QMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDL
DDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVE
HSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKF
DMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIA
DRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYL
YQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWML
QGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKL
WFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLP
KDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNY
TDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPA
EKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDA
FRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIF
DYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLI
FYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTR
GSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYM
VPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNP
NFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAE
SPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEEE
FIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGK
TQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFG
LQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITL
YDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLF
CQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPE
HVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTR
DVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLP
AEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAK
TAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAES
EHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIIL
FILLLFLAIFIYAFPNYAAMKLVKPFS"
BASE COUNT 1496 a 1974 c 1943 g 1326 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 gcagacacag gaggagagga agacacagag gaccagggac tcactggaga
781 tgaggcggag ccattcctgg atcaaagcgg aggcccgggg gctcccacca ccccaaggaa
841 actaccttca cgtcctccgc cccactaccc cgggatcaaa agaaagcgaa gtgcgcctac
901 atctagaaag ctgctgtcag acaaaccgca ggatttccag atcagggtcc aggtgatcga
961 ggggcgccag ctgccggggg tgaacatcaa gcctgtggtc aaggttaccg ctgcagggca
1021 gaccaagcgg acgcggatcc acaagggaaa cagcccactc ttcaatgaga ctcttttctt
1081 caacttgttt gactctcctg gggagctgtt tgatgagccc atctttatca cggtggtaga
1141 ctctcgttct ctcaggacag atgctctcct cggggagttc cggatggacg tgggcaccat
1201 ttacagagag ccccggcacg cctatctcag gaagtggctg ctgctctcag accctgatga
1261 cttctctgct ggggccagag gctacctgaa aacaagcctt tgtgtgctgg ggcctgggga
1321 cgaagcgcct ctggagagaa aagacccctc tgaagacaag gaggacattg aaagcaacct
1381 gctccggccc acaggcgtag ccctgcgagg agcccacttc tgcctgaagg tcttccgggc
1441 cgaggacttg ccgcagatgg acgatgccgt gatggacaac gtgaaacaga tctttggctt
1501 cgagagtaac aagaagaact tggtggaccc ctttgtggag gtcagctttg cggggaaaat
1561 gctgtgcagc aagatcttgg agaagacggc caaccctcag tggaaccaga acatcacact
1621 gcctgccatg tttccctcca tgtgcgaaaa aatgaggatt cgtatcatag actgggaccg
1681 cctgactcac aatgacatcg tggctaccac ctacctgagt atgtcgaaaa tctctgcccc
1741 tggaggagaa atagaagagg agcctgcagg tgctgtcaag ccttcgaaag cctcagactt
1801 ggatgactac ctgggcttcc tccccacttt tgggccctgc tacatcaacc tctatggcag
1861 tcccagagag ttcacaggct tcccagaccc ctacacagag ctcaacacag gcaaggggga
1921 aggtgtggct tatcgtggcc ggcttctgct ctccctggag accaagctgg tggagcacag
1981 tgaacagaag gtggaggacc ttcctgcgga tgacatcctc cgggtggaga agtaccttag
2041 gaggcgcaag tactccctgt ttgcggcctt ctactcagcc accatgctgc aggatgtgga
2101 tgatgccatc cagtttgagg tcagcatcgg gaactacggg aacaagttcg acatgacctg
2161 cctgccgctg gcctccacca ctcagtacag ccgtgcagtc tttgacgggt gccactacta
2221 ctacctaccc tggggtaacg tgaaacctgt ggtggtgctg tcatcctact gggaggacat
2281 cagccataga atcgagactc agaaccagct gcttgggatt gctgaccggc tggaagctgg
2341 cctggagcag gtccacctgg ccctgaaggc gcagtgctcc acggaggacg tggactcgct
2401 ggtggctcag ctgacggatg agctcatcgc aggctgcagc cagcctctgg gtgacatcca
2461 tgagacaccc tctgccaccc acctggacca gtacctgtac cagctgcgca cccatcacct
2521 gagccaaatc actgaggctg ccctggccct gaagctcggc cacagtgagc tccctgcagc
2581 tctggagcag gcggaggact ggctcctgcg tctgcgtgcc ctggcagagg agccccagaa
2641 cagcctgccg gacatcgtca tctggatgct gcagggagac aagcgtgtgg cataccagcg
2701 ggtgcccgcc caccaagtcc tcttctcccg gcggggtgcc aactactgtg gcaagaattg
2761 tgggaagcta cagacaatct ttctgaaata tccgatggag aaggtgcctg gcgcccggat
2821 gccagtgcag atacgggtca agctgtggtt tgggctctct gtggatgaga aggagttcaa
2881 ccagtttgct gaggggaagc tgtctgtctt tgctgaaacc tatgagaacg agactaagtt
2941 ggcccttgtt gggaactggg gcacaacggg cctcacctac cccaagtttt ctgacgtcac
3001 gggcaagatc aagctaccca aggacagctt ccgcccctcg gccggctgga cctgggctgg
3061 agattggttc gtgtgtccgg agaagactct gctccatgac atggacgccg gtcacctgag
3121 cttcgtggaa gaggtgtttg agaaccagac ccggcttccc ggaggccagt ggatctacat
3181 gagtgacaac tacaccgatg tgaacgggga gaaggtgctt cccaaggatg acattgagtg
3241 cccactgggc tggaagtggg aagatgagga atggtccaca gacctcaacc gggctgtcga
3301 tgagcaaggc tgggagtata gcatcaccat ccccccggag cggaagccga agcactgggt
3361 ccctgctgag aagatgtact acacacaccg acggcggcgc tgggtgcgcc tgcgcaggag
3421 ggatctcagc caaatggaag cactgaaaag gcacaggcag gcggaggcgg agggcgaggg
3481 ctgggagtac gcctctcttt ttggctggaa gttccacctc gagtaccgca agacagatgc
3541 cttccgccgc cgccgctggc gccgtcgcat ggagccactg gagaagacgg ggcctgcagc
3601 tgtgtttgcc cttgaggggg ccctgggcgg cgtgatggat gacaagagtg aagattccat
3661 gtccgtctcc accttgagct tcggtgtgaa cagacccacg atttcctgca tattcgacta
3721 tgggaaccgc taccatctac gctgctacat gtaccaggcc cgggacctgg ctgcgatgga
3781 caaggactct ttttctgatc cctatgccat cgtctccttc ctgcaccaga gccagaagac
3841 ggtggtggtg aagaacaccc ttaaccccac ctgggaccag acgctcatct tctacgagat
3901 cgagatcttt ggcgagccgg ccacagttgc tgagcaaccg cccagcattg tggtggagct
3961 gtacgaccat gacacttatg gtgcagacga gtttatgggt cgctgcatct gtcaaccgag
4021 tctggaacgg atgccacggc tggcctggtt cccactgacg aggggcagcc agccgtcggg
4081 ggagctgctg gcctcttttg agctcatcca gagagagaag ccggccatcc accatattcc
4141 tggttttgag gtgcaggaga catcaaggat cctggatgag tctgaggaca cagacctgcc
4201 ctacccacca ccccagaggg aggccaacat ctacatggtt cctcagaaca tcaagccagc
4261 gctccagcgt accgccatcg agatcctggc atggggcctg cggaacatga agagttacca
4321 gctggccaac atctcctccc ccagcctcgt ggtagagtgt gggggccaga cggtgcagtc
4381 ctgtgtcatc aggaacctcc ggaagaaccc caactttgac atctgcaccc tcttcatgga
4441 agtgatgctg cccagggagg agctctactg cccccccatc accgtcaagg tcatcgataa
4501 ccgccagttt ggccgccggc ctgtggtggg ccagtgtacc atccgctccc tggagagctt
4561 cctgtgtgac ccctactcgg cggagagtcc atccccacag ggtggcccag acgatgtgag
4621 cctactcagt cctggggaag acgtgctcat cgacattgat gacaaggagc ccctcatccc
4681 catccagctt gcagacggtc tgtcgagctt ggcccccact aacacggctt ctcctccatc
4741 cagtcctcat gaggaagagt tcatcgattg gtggagcaaa ttctttgcct ccatagggga
4801 gagggaaaag tgcggctcct acctggagaa ggattttgac accctgaagg tctatgacac
4861 acagctggag aatgtggagg cctttgaggg cctgtctgac ttttgtaaca ccttcaagct
4921 gtaccggggc aagacgcagg aggagacaga agatccatct gtgattggtg aatttaaggg
4981 cctcttcaaa atttatcccc tcccagaaga cccagccatc cccatgcccc caagacagtt
5041 ccaccagctg gccgcccagg gaccccagga gtgcttggtc cgtatctaca ttgtccgagc
5101 atttggcctg cagcccaagg accccaatgg aaagtgtgat ccttacatca agatctccat
5161 agggaagaaa tcagtgagtg accaggataa ctacatcccc tgcacgctgg agcccgtatt
5221 tggaaagatg ttcgagctga cctgcactct gcctctggag aaggacctaa agatcactct
5281 ctatgactat gacctcctct ccaaggacga aaagatcggt gagacggtcg tcgacctgga
5341 gaacaggctg ctgtccaagt ttggggctcg ctgtggactc ccacagacct actgtgtctc
5401 tggaccgaac cagtggcggg accagctccg cccctcccag ctcctccacc tcttctgcca
5461 gcagcataga gtcaaggcac ctgtgtaccg gacagaccgt gtaatgtttc aggataaaga
5521 atattccatt gaagagatag aggctggcag gatcccaaac ccacacctgg gcccagtgga
5581 ggagcgtctg gctctgcatg tgcttcagca gcagggcctg gtcccggagc acgtggagtc
5641 acggcccctc tacagccccc tgcagccaga catcgagcag gggaagctgc agatgtgggt
5701 cgacctattt ccgaaggccc tggggcggcc tggacctccc ttcaacatca ccccacggag
5761 agccagaagg tttttcctgc gttgtattat ctggaatacc agagatgtga tcctggatga
5821 cctgagcctc acgggggaga agatgagcga catttatgtg aaaggttgga tgattggctt
5881 tgaagaacac aagcaaaaga cagacgtgca ttatcgttcc ctgggaggtg aaggcaactt
5941 caactggagg ttcattttcc ccttcgacta cctgccagct gagcaagtct gtaccattgc
6001 caagaaggat gccttctgga ggctggacaa gactgagagc aaaatcccag cacgagtggt
6061 gttccagatc tgggacaatg acaagttctc ctttgatgat tttctgggct ccctgcagct
6121 cgatctcaac cgcatgccca agccagccaa gacagccaag aagtgctcct tggaccagct
6181 ggatgatgct ttccacccag aatggtttgt gtcccttttt gagcagaaaa cagtgaaggg
6241 ctggtggccc tgtgtagcag aagagggtga gaagaaaata ctggcgggca agctggaaat
6301 gaccttggag attgtagcag agagtgagca tgaggagcgg cctgctggcc agggccggga
6361 tgagcccaac atgaacccta agcttgagga cccaaggcgc cccgacacct ccttcctgtg
6421 gtttacctcc ccatacaaga ccatgaagtt catcctgtgg cggcgtttcc ggtgggccat
6481 catcctcttc atcatcctct tcatcctgct gctgttcctg gccatcttca tctacgcctt
6541 cccgaactat gctgccatga agctggtgaa gcccttcagc tgaggactct cctgccctgt
6601 agaaggggcc gtggggtccc ctccagcatg ggactggcct gcctcctccg cccagctcgg
6661 cgagctcctc cagacctcct aggcctgatt gtcctgccag ggtgggcaga cagacagatg
6721 gaccggccca cactcccag
//