LOCUS       NM_001130983            6724 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens dysferlin (DYSF), transcript variant 6, mRNA.
ACCESSION   NM_001130983
VERSION     NM_001130983.2
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 6724)
  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 6724)
  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 6724)
  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 6724)
  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 6724)
  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 6724)
  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 6724)
  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 6724)
  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 6724)
  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 6724)
  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, EU515163.1,
            AF075575.1, DB292971.1, EU515157.1 and AK074649.1.
            
            On May 31, 2019 this sequence version replaced NM_001130983.1.
            
            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 (6) has multiple differences in
            the coding region but maintains the reading frame, compared to
            variant 1. This variant encodes isoform 6 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 :: EU515163.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [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
            4-1973              EU515163.1         1-1970
            1974-2729           AF075575.1         2200-2955
            2730-3155           DB292971.1         118-543
            3156-3680           EU515163.1         3153-3677
            3681-6609           EU515157.1         3811-6739
            6610-6724           AK074649.1         1913-2027
FEATURES             Location/Qualifiers
     source          1..6724
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..6724
                     /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..6453
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="isoform 6 is encoded by transcript variant 6;
                     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 6"
                     /protein_id="NP_001124455.1"
                     /db_xref="CCDS:CCDS46330.1"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
                     /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
                     ESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEE
                     EFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRG
                     KTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAF
                     GLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKIT
                     LYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHL
                     FCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVP
                     EHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNT
                     RDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYL
                     PAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPA
                     KTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAE
                     SEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFII
                     LFILLLFLAIFIYAFPNYAAMKLVKPFS"
     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..1669
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1670..1785
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1899
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1900..2077
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2078..2202
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..2309
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2310..2502
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2503..2658
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2659..2790
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2791..2957
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2958..3072
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3073..3178
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3179..3321
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3322..3495
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3496..3589
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3590..3667
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3668..3849
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3850..3990
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3991..4020
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4021..4050
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4051..4152
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4153..4314
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4315..4480
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4481..4557
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4558..4620
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4621..4719
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4720..4848
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4849..5004
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5005..5096
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5097..5267
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5268..5410
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5411..5550
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5551..5639
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5640..5735
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5736..5877
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5878..5977
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5978..6156
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6157..6266
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6267..6414
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6415..6724
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6704..6709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="hexamer: TATAAA"
     polyA_site      6724
                     /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 atagaagagg agcctgcagg tgctgtcaag ccttcgaaag cctcagactt ggatgactac
     1681 ctgggcttcc tccccacttt tgggccctgc tacatcaacc tctatggcag tcccagagag
     1741 ttcacaggct tcccagaccc ctacacagag ctcaacacag gcaaggggga aggtgtggct
     1801 tatcgtggcc ggcttctgct ctccctggag accaagctgg tggagcacag tgaacagaag
     1861 gtggaggacc ttcctgcgga tgacatcctc cgggtggaga agtaccttag gaggcgcaag
     1921 tactccctgt ttgcggcctt ctactcagcc accatgctgc aggatgtgga tgatgccatc
     1981 cagtttgagg tcagcatcgg gaactacggg aacaagttcg acatgacctg cctgccgctg
     2041 gcctccacca ctcagtacag ccgtgcagtc tttgacgggt gccactacta ctacctaccc
     2101 tggggtaacg tgaaacctgt ggtggtgctg tcatcctact gggaggacat cagccataga
     2161 atcgagactc agaaccagct gcttgggatt gctgaccggc tggaagctgg cctggagcag
     2221 gtccacctgg ccctgaaggc gcagtgctcc acggaggacg tggactcgct ggtggctcag
     2281 ctgacggatg agctcatcgc aggctgcagc cagcctctgg gtgacatcca tgagacaccc
     2341 tctgccaccc acctggacca gtacctgtac cagctgcgca cccatcacct gagccaaatc
     2401 actgaggctg ccctggccct gaagctcggc cacagtgagc tccctgcagc tctggagcag
     2461 gcggaggact ggctcctgcg tctgcgtgcc ctggcagagg agccccagaa cagcctgccg
     2521 gacatcgtca tctggatgct gcagggagac aagcgtgtgg cataccagcg ggtgcccgcc
     2581 caccaagtcc tcttctcccg gcggggtgcc aactactgtg gcaagaattg tgggaagcta
     2641 cagacaatct ttctgaaata tccgatggag aaggtgcctg gcgcccggat gccagtgcag
     2701 atacgggtca agctgtggtt tgggctctca gtggatgaga aggagttcaa ccagtttgct
     2761 gaggggaagc tgtctgtctt tgctgaaacc tatgagaacg agactaagtt ggcccttgtt
     2821 gggaactggg gcacaacggg cctcacctac cccaagtttt ctgacgtcac gggcaagatc
     2881 aagctaccca aggacagctt ccgcccctcg gccggctgga cctgggctgg agattggttc
     2941 gtgtgtccgg agaagactct gctccatgac atggacgccg gtcacctgag cttcgtggaa
     3001 gaggtgtttg agaaccagac ccggcttccc ggaggccagt ggatctacat gagtgacaac
     3061 tacaccgatg tgaacgggga gaaggtgctt cccaaggatg acattgagtg cccactgggc
     3121 tggaagtggg aagatgagga atggtccaca gacctcaacc gggctgtcga tgagcaaggc
     3181 tgggagtata gcatcaccat ccccccggag cggaagccga agcactgggt ccctgctgag
     3241 aagatgtact acacacaccg acggcggcgc tgggtgcgcc tgcgcaggag ggatctcagc
     3301 caaatggaag cactgaaaag gcacaggcag gcggaggcgg agggcgaggg ctgggagtac
     3361 gcctctcttt ttggctggaa gttccacctc gagtaccgca agacagatgc cttccgccgc
     3421 cgccgctggc gccgtcgcat ggagccactg gagaagacgg ggcctgcagc tgtgtttgcc
     3481 cttgaggggg ccctgggcgg cgtgatggat gacaagagtg aagattccat gtccgtctcc
     3541 accttgagct tcggtgtgaa cagacccacg atttcctgca tattcgacta tgggaaccgc
     3601 taccatctac gctgctacat gtaccaggcc cgggacctgg ctgcgatgga caaggactct
     3661 ttttctgatc cctatgccat cgtctccttc ctgcaccaga gccagaagac ggtggtggtg
     3721 aagaacaccc ttaaccccac ctgggaccag acgctcatct tctacgagat cgagatcttt
     3781 ggcgagccgg ccacagttgc tgagcaaccg cccagcattg tggtggagct gtacgaccat
     3841 gacacttatg gtgcagacga gtttatgggt cgctgcatct gtcaaccgag tctggaacgg
     3901 atgccacggc tggcctggtt cccactgacg aggggcagcc agccgtcggg ggagctgctg
     3961 gcctcttttg agctcatcca gagagagaag ccggccatcc accatattcc tggttttgag
     4021 gtgcaggaga catcaaggat cctggatgag tctgaggaca cagacctgcc ctacccacca
     4081 ccccagaggg aggccaacat ctacatggtt cctcagaaca tcaagccagc gctccagcgt
     4141 accgccatcg agatcctggc atggggcctg cggaacatga agagttacca gctggccaac
     4201 atctcctccc ccagcctcgt ggtagagtgt gggggccaga cggtgcagtc ctgtgtcatc
     4261 aggaacctcc ggaagaaccc caactttgac atctgcaccc tcttcatgga agtgatgctg
     4321 cccagggagg agctctactg cccccccatc accgtcaagg tcatcgataa ccgccagttt
     4381 ggccgccggc ctgtggtggg ccagtgtacc atccgctccc tggagagctt cctgtgtgac
     4441 ccctactcgg cggagagtcc atccccacag ggtggcccag acgatgtgag cctactcagt
     4501 cctggggaag acgtgctcat cgacattgat gacaaggagc ccctcatccc catccagctt
     4561 gcagacggtc tgtcgagctt ggcccccact aacacggctt ctcctccatc cagtcctcat
     4621 gaggaagagt tcatcgattg gtggagcaaa ttctttgcct ccatagggga gagggaaaag
     4681 tgcggctcct acctggagaa ggattttgac accctgaagg tctatgacac acagctggag
     4741 aatgtggagg cctttgaggg cctgtctgac ttttgtaaca ccttcaagct gtaccggggc
     4801 aagacgcagg aggagacaga agatccatct gtgattggtg aatttaaggg cctcttcaaa
     4861 atttatcccc tcccagaaga cccagccatc cccatgcccc caagacagtt ccaccagctg
     4921 gccgcccagg gaccccagga gtgcttggtc cgtatctaca ttgtccgagc atttggcctg
     4981 cagcccaagg accccaatgg aaagtgtgat ccttacatca agatctccat agggaagaaa
     5041 tcagtgagtg accaggataa ctacatcccc tgcacgctgg agcccgtatt tggaaagatg
     5101 ttcgagctga cctgcactct gcctctggag aaggacctaa agatcactct ctatgactat
     5161 gacctcctct ccaaggacga aaagatcggt gagacggtcg tcgacctgga gaacaggctg
     5221 ctgtccaagt ttggggctcg ctgtggactc ccacagacct actgtgtctc tggaccgaac
     5281 cagtggcggg accagctccg cccctcccag ctcctccacc tcttctgcca gcagcataga
     5341 gtcaaggcac ctgtgtaccg gacagaccgt gtaatgtttc aggataaaga atattccatt
     5401 gaagagatag aggctggcag gatcccaaac ccacacctgg gcccagtgga ggagcgtctg
     5461 gctctgcatg tgcttcagca gcagggcctg gtcccggagc acgtggagtc acggcccctc
     5521 tacagccccc tgcagccaga catcgagcag gggaagctgc agatgtgggt cgacctattt
     5581 ccgaaggccc tggggcggcc tggacctccc ttcaacatca ccccacggag agccagaagg
     5641 tttttcctgc gttgtattat ctggaatacc agagatgtga tcctggatga cctgagcctc
     5701 acgggggaga agatgagcga catttatgtg aaaggttgga tgattggctt tgaagaacac
     5761 aagcaaaaga cagacgtgca ttatcgttcc ctgggaggtg aaggcaactt caactggagg
     5821 ttcattttcc ccttcgacta cctgccagct gagcaagtct gtaccattgc caagaaggat
     5881 gccttctgga ggctggacaa gactgagagc aaaatcccag cacgagtggt gttccagatc
     5941 tgggacaatg acaagttctc ctttgatgat tttctgggct ccctgcagct cgatctcaac
     6001 cgcatgccca agccagccaa gacagccaag aagtgctcct tggaccagct ggatgatgct
     6061 ttccacccag aatggtttgt gtcccttttt gagcagaaaa cagtgaaggg ctggtggccc
     6121 tgtgtagcag aagagggtga gaagaaaata ctggcgggca agctggaaat gaccttggag
     6181 attgtagcag agagtgagca tgaggagcgg cctgctggcc agggccggga tgagcccaac
     6241 atgaacccta agcttgagga cccaaggcgc cccgacacct ccttcctgtg gtttacctcc
     6301 ccatacaaga ccatgaagtt catcctgtgg cggcgtttcc ggtgggccat catcctcttc
     6361 atcatcctct tcatcctgct gctgttcctg gccatcttca tctacgcctt cccgaactat
     6421 gctgccatga agctggtgaa gcccttcagc tgaggactct cctgccctgt agaaggggcc
     6481 gtggggtccc ctccagcatg ggactggcct gcctcctccg cccagctcgg cgagctcctc
     6541 cagacctcct aggcctgatt gtcctgccag ggtgggcaga cagacagatg gaccggccca
     6601 cactcccaga gttgctaaca tggagctctg agatcacccc acttccatca tttccttctc
     6661 ccccaaccca acgctttttt ggatcagctc agacatattt cagtataaaa cagttggaac
     6721 caca
//
