LOCUS       NM_001130984            6682 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens dysferlin (DYSF), transcript variant 5, mRNA.
ACCESSION   NM_001130984
VERSION     NM_001130984.2
KEYWORDS    RefSeq.
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 6682)
  AUTHORS   Paulke,N.J., Fleischhacker,C., Wegener,J.B., Riedemann,G.C.,
            Cretu,C., Mushtaq,M., Zaremba,N., Mobius,W., Zuhlke,Y.,
            Wedemeyer,J., Liebmann,L., Gorshkova,A.A., Kownatzki-Danger,D.,
            Wagner,E., Kohl,T., Wichmann,C., Jahn,O., Urlaub,H., Toischer,K.,
            Hasenfuss,G., Moser,T., Preobraschenski,J., Lenz,C.,
            Rog-Zielinska,E.A., Lehnart,S.E. and Brandenburg,S.
  TITLE     Dysferlin Enables Tubular Membrane Proliferation in Cardiac
            Hypertrophy
  JOURNAL   Circ Res 135 (5), 554-574 (2024)
   PUBMED   39011635
  REMARK    GeneRIF: Dysferlin Enables Tubular Membrane Proliferation in
            Cardiac Hypertrophy.
REFERENCE   2  (bases 1 to 6682)
  AUTHORS   Chen,Y.L., Wu,W.B., Wang,P., Yip,P.K., Wu,Y.N., Lin,Y.H. and
            Lin,W.N.
  TITLE     Novel five nucleotide deletion in dysferlin leads to autosomal
            recessive limb-girdle muscular dystrophy
  JOURNAL   Physiol Rep 11 (24), e15887 (2023)
   PUBMED   38110300
  REMARK    GeneRIF: Novel five nucleotide deletion in dysferlin leads to
            autosomal recessive limb-girdle muscular dystrophy.
REFERENCE   3  (bases 1 to 6682)
  AUTHORS   Fontelonga,T., Hall,A.J., Brown,J.L., Jung,Y.L., Alexander,M.S.,
            Dominov,J.A., Mouly,V., Vieira,N., Zatz,M., Vainzof,M. and
            Gussoni,E.
  TITLE     Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle
            Cells and Binds to Dysferlin and Myoferlin
  JOURNAL   Adv Biol (Weinh) 7 (12), e2300157 (2023)
   PUBMED   37434585
  REMARK    GeneRIF: Tetraspanin CD82 Associates with Trafficking Vesicle in
            Muscle Cells and Binds to Dysferlin and Myoferlin.
REFERENCE   4  (bases 1 to 6682)
  AUTHORS   Folland,C., Johnsen,R., Botero Gomez,A., Trajanoski,D., Davis,M.R.,
            Moore,U., Straub,V., Barresi,R., Guglieri,M., Hayhurst,H.,
            Schaefer,A.M., Laing,N.G., Lamont,P.J. and Ravenscroft,G.
  TITLE     Identification of a novel heterozygous DYSF variant in a large
            family with a dominantly-inherited dysferlinopathy
  JOURNAL   Neuropathol Appl Neurobiol 48 (7), e12846 (2022)
   PUBMED   35962550
  REMARK    GeneRIF: Identification of a novel heterozygous DYSF variant in a
            large family with a dominantly-inherited dysferlinopathy.
REFERENCE   5  (bases 1 to 6682)
  AUTHORS   Anderson,L.V., Davison,K., Moss,J.A., Young,C., Cullen,M.J.,
            Walsh,J., Johnson,M.A., Bashir,R., Britton,S., Keers,S., Argov,Z.,
            Mahjneh,I., Fougerousse,F., Beckmann,J.S. and Bushby,K.M.
  TITLE     Dysferlin is a plasma membrane protein and is expressed early in
            human development
  JOURNAL   Hum Mol Genet 8 (5), 855-861 (1999)
   PUBMED   10196375
  REMARK    Erratum:[Hum Mol Genet 1999 Jun;8(6):1141]
REFERENCE   6  (bases 1 to 6682)
  AUTHORS   Bashir,R., Britton,S., Strachan,T., Keers,S., Vafiadaki,E.,
            Lako,M., Richard,I., Marchand,S., Bourg,N., Argov,Z., Sadeh,M.,
            Mahjneh,I., Marconi,G., Passos-Bueno,M.R., Moreira Ede,S., Zatz,M.,
            Beckmann,J.S. and Bushby,K.
  TITLE     A gene related to Caenorhabditis elegans spermatogenesis factor
            fer-1 is mutated in limb-girdle muscular dystrophy type 2B
  JOURNAL   Nat Genet 20 (1), 37-42 (1998)
   PUBMED   9731527
REFERENCE   7  (bases 1 to 6682)
  AUTHORS   Liu,J., Aoki,M., Illa,I., Wu,C., Fardeau,M., Angelini,C.,
            Serrano,C., Urtizberea,J.A., Hentati,F., Hamida,M.B., Bohlega,S.,
            Culper,E.J., Amato,A.A., Bossie,K., Oeltjen,J., Bejaoui,K.,
            McKenna-Yasek,D., Hosler,B.A., Schurr,E., Arahata,K., de Jong,P.J.
            and Brown,R.H. Jr.
  TITLE     Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi
            myopathy and limb girdle muscular dystrophy
  JOURNAL   Nat Genet 20 (1), 31-36 (1998)
   PUBMED   9731526
REFERENCE   8  (bases 1 to 6682)
  AUTHORS   Bashir,R., Strachan,T., Keers,S., Stephenson,A., Mahjneh,I.,
            Marconi,G., Nashef,L. and Bushby,K.M.
  TITLE     A gene for autosomal recessive limb-girdle muscular dystrophy maps
            to chromosome 2p
  JOURNAL   Hum Mol Genet 3 (3), 455-457 (1994)
   PUBMED   8012357
REFERENCE   9  (bases 1 to 6682)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   10 (bases 1 to 6682)
  AUTHORS   Aoki,M. and Takahashi,T.
  TITLE     Dysferlinopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301480
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104084.5, EU515165.1,
            AF075575.1, DB292971.1, EU515157.1 and AK074649.1.
            
            On May 31, 2019 this sequence version replaced NM_001130984.1.
            
            Summary: The protein encoded by this gene belongs to the ferlin
            family and is a skeletal muscle protein found associated with the
            sarcolemma. It is involved in muscle contraction and contains C2
            domains that play a role in calcium-mediated membrane fusion
            events, suggesting that it may be involved in membrane regeneration
            and repair. In addition, the protein encoded by this gene binds
            caveolin-3, a skeletal muscle membrane protein which is important
            in the formation of caveolae. Specific mutations in this gene have
            been shown to cause autosomal recessive limb girdle muscular
            dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Aug 2008].
            
            Transcript Variant: This variant (5) has multiple differences in
            the coding region but maintains the reading frame, compared to
            variant 1. This variant encodes isoform 5 which is shorter than
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU515165.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC104084.5         31877-31879
            4-1931              EU515165.1         1-1928
            1932-2687           AF075575.1         2200-2955
            2688-3113           DB292971.1         118-543
            3114-3638           EU515165.1         3111-3635
            3639-6567           EU515157.1         3811-6739
            6568-6682           AK074649.1         1913-2027
FEATURES             Location/Qualifiers
     source          1..6682
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..6682
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="dysferlin"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
     exon            1..235
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..6411
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="isoform 5 is encoded by transcript variant 5;
                     dystrophy-associated fer-1-like 1; fer-1-like protein 1;
                     limb girdle muscular dystrophy 2B (autosomal recessive);
                     fer-1-like family member 1"
                     /codon_start=1
                     /product="dysferlin isoform 5"
                     /protein_id="NP_001124456.1"
                     /db_xref="CCDS:CCDS46332.1"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
                     /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"
     exon            236..291
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            292..383
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            384..489
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            490..604
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            605..810
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            811..939
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1002
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1053
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1084
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1200
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1327
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1431
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1500
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1544
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1627
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1628..1743
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1857
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1858..2035
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2036..2160
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2161..2267
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2268..2460
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2461..2616
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2617..2748
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2749..2915
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2916..3030
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3031..3136
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3137..3279
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3280..3453
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3454..3547
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3548..3625
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3626..3807
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3808..3948
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3949..3978
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3979..4008
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4009..4110
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4111..4272
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4273..4438
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4439..4515
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4516..4578
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4579..4677
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4678..4806
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4807..4962
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4963..5054
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5055..5225
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5226..5368
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5369..5508
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5509..5597
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5598..5693
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5694..5835
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5836..5935
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5936..6114
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6115..6224
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6225..6372
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6373..6682
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6662..6667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="hexamer: TATAAA"
     polyA_site      6682
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="major polyA site"
ORIGIN      
        1 acttctccgc ggaggagcag cgaaggcgac agctctcttg gcgcggctgc ctgggagccg
       61 ggcgcttgct gggtgggtgc tcgggcccgg tgctcccgct cccgccctga ctgcgcgcct
      121 gtgtgccgcc ggggctgccc agccatgctg tgctgcctgc tggtgagggc cagcaacctc
      181 cccagtgcga agaaggaccg gcgcagcgac cctgtcgcaa gcctgacttt ccgaggggtg
      241 aagaagagaa ccaaagtcat caagaacagc gtgaaccctg tatggaatga gggatttgaa
      301 tgggacctca agggcatccc cctggaccag ggctctgagc ttcatgtggt ggtcaaagac
      361 catgagacga tggggaggaa caggttcctg ggggaagcca aggtcccact ccgagaggtc
      421 ctcgccaccc ctagtctgtc cgccagcttc aatgcccccc tgctggacac caagaagcag
      481 cccacagggg cctcgctggt cctgcaggtg tcctacacac cgctgcctgg agctgtgccc
      541 ctgttcccgc cccctactcc tctggagccc tccccgactc tgcctgacct ggatgtagtg
      601 gcagacacag gaggagagga agacacagag gaccagggac tcactggaga tgaggcggag
      661 ccattcctgg atcaaagcgg aggcccgggg gctcccacca ccccaaggaa actaccttca
      721 cgtcctccgc cccactaccc cgggatcaaa agaaagcgaa gtgcgcctac atctagaaag
      781 ctgctgtcag acaaaccgca ggatttccag atcagggtcc aggtgatcga ggggcgccag
      841 ctgccggggg tgaacatcaa gcctgtggtc aaggttaccg ctgcagggca gaccaagcgg
      901 acgcggatcc acaagggaaa cagcccactc ttcaatgaga ctcttttctt caacttgttt
      961 gactctcctg gggagctgtt tgatgagccc atctttatca cggtggtaga ctctcgttct
     1021 ctcaggacag atgctctcct cggggagttc cggatggacg tgggcaccat ttacagagag
     1081 ccccggcacg cctatctcag gaagtggctg ctgctctcag accctgatga cttctctgct
     1141 ggggccagag gctacctgaa aacaagcctt tgtgtgctgg ggcctgggga cgaagcgcct
     1201 ctggagagaa aagacccctc tgaagacaag gaggacattg aaagcaacct gctccggccc
     1261 acaggcgtag ccctgcgagg agcccacttc tgcctgaagg tcttccgggc cgaggacttg
     1321 ccgcagatgg acgatgccgt gatggacaac gtgaaacaga tctttggctt cgagagtaac
     1381 aagaagaact tggtggaccc ctttgtggag gtcagctttg cggggaaaat gctgtgcagc
     1441 aagatcttgg agaagacggc caaccctcag tggaaccaga acatcacact gcctgccatg
     1501 tttccctcca tgtgcgaaaa aatgaggatt cgtatcatag actgggaccg cctgactcac
     1561 aatgacatcg tggctaccac ctacctgagt atgtcgaaaa tctctgcccc tggaggagaa
     1621 atagaagtgg atgactacct gggcttcctc cccacttttg ggccctgcta catcaacctc
     1681 tatggcagtc ccagagagtt cacaggcttc ccagacccct acacagagct caacacaggc
     1741 aagggggaag gtgtggctta tcgtggccgg cttctgctct ccctggagac caagctggtg
     1801 gagcacagtg aacagaaggt ggaggacctt cctgcggatg acatcctccg ggtggagaag
     1861 taccttagga ggcgcaagta ctccctgttt gcggccttct actcagccac catgctgcag
     1921 gatgtggatg atgccatcca gtttgaggtc agcatcggga actacgggaa caagttcgac
     1981 atgacctgcc tgccgctggc ctccaccact cagtacagcc gtgcagtctt tgacgggtgc
     2041 cactactact acctaccctg gggtaacgtg aaacctgtgg tggtgctgtc atcctactgg
     2101 gaggacatca gccatagaat cgagactcag aaccagctgc ttgggattgc tgaccggctg
     2161 gaagctggcc tggagcaggt ccacctggcc ctgaaggcgc agtgctccac ggaggacgtg
     2221 gactcgctgg tggctcagct gacggatgag ctcatcgcag gctgcagcca gcctctgggt
     2281 gacatccatg agacaccctc tgccacccac ctggaccagt acctgtacca gctgcgcacc
     2341 catcacctga gccaaatcac tgaggctgcc ctggccctga agctcggcca cagtgagctc
     2401 cctgcagctc tggagcaggc ggaggactgg ctcctgcgtc tgcgtgccct ggcagaggag
     2461 ccccagaaca gcctgccgga catcgtcatc tggatgctgc agggagacaa gcgtgtggca
     2521 taccagcggg tgcccgccca ccaagtcctc ttctcccggc ggggtgccaa ctactgtggc
     2581 aagaattgtg ggaagctaca gacaatcttt ctgaaatatc cgatggagaa ggtgcctggc
     2641 gcccggatgc cagtgcagat acgggtcaag ctgtggtttg ggctctcagt ggatgagaag
     2701 gagttcaacc agtttgctga ggggaagctg tctgtctttg ctgaaaccta tgagaacgag
     2761 actaagttgg cccttgttgg gaactggggc acaacgggcc tcacctaccc caagttttct
     2821 gacgtcacgg gcaagatcaa gctacccaag gacagcttcc gcccctcggc cggctggacc
     2881 tgggctggag attggttcgt gtgtccggag aagactctgc tccatgacat ggacgccggt
     2941 cacctgagct tcgtggaaga ggtgtttgag aaccagaccc ggcttcccgg aggccagtgg
     3001 atctacatga gtgacaacta caccgatgtg aacggggaga aggtgcttcc caaggatgac
     3061 attgagtgcc cactgggctg gaagtgggaa gatgaggaat ggtccacaga cctcaaccgg
     3121 gctgtcgatg agcaaggctg ggagtatagc atcaccatcc ccccggagcg gaagccgaag
     3181 cactgggtcc ctgctgagaa gatgtactac acacaccgac ggcggcgctg ggtgcgcctg
     3241 cgcaggaggg atctcagcca aatggaagca ctgaaaaggc acaggcaggc ggaggcggag
     3301 ggcgagggct gggagtacgc ctctcttttt ggctggaagt tccacctcga gtaccgcaag
     3361 acagatgcct tccgccgccg ccgctggcgc cgtcgcatgg agccactgga gaagacgggg
     3421 cctgcagctg tgtttgccct tgagggggcc ctgggcggcg tgatggatga caagagtgaa
     3481 gattccatgt ccgtctccac cttgagcttc ggtgtgaaca gacccacgat ttcctgcata
     3541 ttcgactatg ggaaccgcta ccatctacgc tgctacatgt accaggcccg ggacctggct
     3601 gcgatggaca aggactcttt ttctgatccc tatgccatcg tctccttcct gcaccagagc
     3661 cagaagacgg tggtggtgaa gaacaccctt aaccccacct gggaccagac gctcatcttc
     3721 tacgagatcg agatctttgg cgagccggcc acagttgctg agcaaccgcc cagcattgtg
     3781 gtggagctgt acgaccatga cacttatggt gcagacgagt ttatgggtcg ctgcatctgt
     3841 caaccgagtc tggaacggat gccacggctg gcctggttcc cactgacgag gggcagccag
     3901 ccgtcggggg agctgctggc ctcttttgag ctcatccaga gagagaagcc ggccatccac
     3961 catattcctg gttttgaggt gcaggagaca tcaaggatcc tggatgagtc tgaggacaca
     4021 gacctgccct acccaccacc ccagagggag gccaacatct acatggttcc tcagaacatc
     4081 aagccagcgc tccagcgtac cgccatcgag atcctggcat ggggcctgcg gaacatgaag
     4141 agttaccagc tggccaacat ctcctccccc agcctcgtgg tagagtgtgg gggccagacg
     4201 gtgcagtcct gtgtcatcag gaacctccgg aagaacccca actttgacat ctgcaccctc
     4261 ttcatggaag tgatgctgcc cagggaggag ctctactgcc cccccatcac cgtcaaggtc
     4321 atcgataacc gccagtttgg ccgccggcct gtggtgggcc agtgtaccat ccgctccctg
     4381 gagagcttcc tgtgtgaccc ctactcggcg gagagtccat ccccacaggg tggcccagac
     4441 gatgtgagcc tactcagtcc tggggaagac gtgctcatcg acattgatga caaggagccc
     4501 ctcatcccca tccagcttgc agacggtctg tcgagcttgg cccccactaa cacggcttct
     4561 cctccatcca gtcctcatga ggaagagttc atcgattggt ggagcaaatt ctttgcctcc
     4621 ataggggaga gggaaaagtg cggctcctac ctggagaagg attttgacac cctgaaggtc
     4681 tatgacacac agctggagaa tgtggaggcc tttgagggcc tgtctgactt ttgtaacacc
     4741 ttcaagctgt accggggcaa gacgcaggag gagacagaag atccatctgt gattggtgaa
     4801 tttaagggcc tcttcaaaat ttatcccctc ccagaagacc cagccatccc catgccccca
     4861 agacagttcc accagctggc cgcccaggga ccccaggagt gcttggtccg tatctacatt
     4921 gtccgagcat ttggcctgca gcccaaggac cccaatggaa agtgtgatcc ttacatcaag
     4981 atctccatag ggaagaaatc agtgagtgac caggataact acatcccctg cacgctggag
     5041 cccgtatttg gaaagatgtt cgagctgacc tgcactctgc ctctggagaa ggacctaaag
     5101 atcactctct atgactatga cctcctctcc aaggacgaaa agatcggtga gacggtcgtc
     5161 gacctggaga acaggctgct gtccaagttt ggggctcgct gtggactccc acagacctac
     5221 tgtgtctctg gaccgaacca gtggcgggac cagctccgcc cctcccagct cctccacctc
     5281 ttctgccagc agcatagagt caaggcacct gtgtaccgga cagaccgtgt aatgtttcag
     5341 gataaagaat attccattga agagatagag gctggcagga tcccaaaccc acacctgggc
     5401 ccagtggagg agcgtctggc tctgcatgtg cttcagcagc agggcctggt cccggagcac
     5461 gtggagtcac ggcccctcta cagccccctg cagccagaca tcgagcaggg gaagctgcag
     5521 atgtgggtcg acctatttcc gaaggccctg gggcggcctg gacctccctt caacatcacc
     5581 ccacggagag ccagaaggtt tttcctgcgt tgtattatct ggaataccag agatgtgatc
     5641 ctggatgacc tgagcctcac gggggagaag atgagcgaca tttatgtgaa aggttggatg
     5701 attggctttg aagaacacaa gcaaaagaca gacgtgcatt atcgttccct gggaggtgaa
     5761 ggcaacttca actggaggtt cattttcccc ttcgactacc tgccagctga gcaagtctgt
     5821 accattgcca agaaggatgc cttctggagg ctggacaaga ctgagagcaa aatcccagca
     5881 cgagtggtgt tccagatctg ggacaatgac aagttctcct ttgatgattt tctgggctcc
     5941 ctgcagctcg atctcaaccg catgcccaag ccagccaaga cagccaagaa gtgctccttg
     6001 gaccagctgg atgatgcttt ccacccagaa tggtttgtgt ccctttttga gcagaaaaca
     6061 gtgaagggct ggtggccctg tgtagcagaa gagggtgaga agaaaatact ggcgggcaag
     6121 ctggaaatga ccttggagat tgtagcagag agtgagcatg aggagcggcc tgctggccag
     6181 ggccgggatg agcccaacat gaaccctaag cttgaggacc caaggcgccc cgacacctcc
     6241 ttcctgtggt ttacctcccc atacaagacc atgaagttca tcctgtggcg gcgtttccgg
     6301 tgggccatca tcctcttcat catcctcttc atcctgctgc tgttcctggc catcttcatc
     6361 tacgccttcc cgaactatgc tgccatgaag ctggtgaagc ccttcagctg aggactctcc
     6421 tgccctgtag aaggggccgt ggggtcccct ccagcatggg actggcctgc ctcctccgcc
     6481 cagctcggcg agctcctcca gacctcctag gcctgattgt cctgccaggg tgggcagaca
     6541 gacagatgga ccggcccaca ctcccagagt tgctaacatg gagctctgag atcaccccac
     6601 ttccatcatt tccttctccc ccaacccaac gcttttttgg atcagctcag acatatttca
     6661 gtataaaaca gttggaacca ca
//
