LOCUS       NM_001130980            7003 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens dysferlin (DYSF), transcript variant 13, mRNA.
ACCESSION   NM_001130980
VERSION     NM_001130980.2
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 7003)
  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 7003)
  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 7003)
  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 7003)
  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 7003)
  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 7003)
  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 7003)
  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 7003)
  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 7003)
  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 7003)
  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, AI192657.1,
            EU515158.1, AI128455.1, DB292971.1 and AK074649.1.
            
            On May 31, 2019 this sequence version replaced NM_001130980.1.
            
            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 (13) differs in the 5' UTR and has
            multiple coding region differences, compared to variant 1. These
            differences cause translation initiation at an upstream AUG and a
            shorter isoform (13) with an alternate N-terminus compared to
            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 :: EU515158.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AC104084.5         18739-18800
            63-161              AI192657.1         1-99
            162-224             EU515158.1         1-63
            225-526             AI128455.1         163-464
            527-3071            EU515158.1         366-2910
            3072-3497           DB292971.1         118-543
            3498-6888           EU515158.1         3337-6727
            6889-7003           AK074649.1         1913-2027
FEATURES             Location/Qualifiers
     source          1..7003
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..7003
                     /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..526
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             439..6732
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="isoform 13 is encoded by transcript variant 13;
                     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 13"
                     /protein_id="NP_001124452.1"
                     /db_xref="CCDS:CCDS46325.1"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
                     /translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
                     VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
                     APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRAE
                     TWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPR
                     KLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTA
                     AGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRM
                     DVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDK
                     EDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF
                     VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVAT
                     TYLSMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEG
                     VAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDV
                     DDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYW
                     EDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQP
                     LGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRA
                     LAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYP
                     MEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTT
                     GLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFE
                     NQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWE
                     YSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEY
                     ASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMS
                     VSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQK
                     TVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCIC
                     QPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESE
                     DTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVEC
                     GGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQ
                     CTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDW
                     WSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEE
                     TEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPK
                     DPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYD
                     LLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQH
                     RVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVES
                     RPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVIL
                     DDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQV
                     CTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKK
                     CSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEE
                     RPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILL
                     LFLAIFIYAFPNYAAMKLVKPFS"
     exon            527..582
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            583..674
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            675..780
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            781..895
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            896..988
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1194
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1323
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1386
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1437
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1468
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1584
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1711
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1712..1815
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1884
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1885..1928
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2011
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2012..2127
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2128..2241
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..2419
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2420..2544
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2545..2651
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2652..2844
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2845..3000
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3001..3132
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3133..3299
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3300..3414
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3415..3520
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3521..3663
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3664..3837
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3838..3931
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3932..4009
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4010..4191
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4192..4332
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4333..4362
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4363..4392
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4393..4494
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4495..4656
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4657..4822
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4823..4899
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4900..4998
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4999..5127
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5128..5283
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5284..5375
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5376..5546
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5547..5689
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5690..5829
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5830..5918
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5919..6014
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6015..6156
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6157..6256
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6257..6435
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6436..6545
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6546..6693
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6694..7003
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6983..6988
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="hexamer: TATAAA"
     polyA_site      7003
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="major polyA site"
ORIGIN      
        1 gtccaagagc gagatctggg ctacgccggg cgcccggagc cctagtccag cccccggcca
       61 tcgcggccgc cgcccagcca ggtgcaaaat gccgtgtcat tgggagactc cgcagccgga
      121 gcattagatt acagctcgac ggagctcggg aagggcggcg ggggtggaag atgagcagaa
      181 gcccctgttc tcggaacgcc ggctgacaag cggggtgagc gcagccgggg cggggaccca
      241 gcctagccca ctggagcagc cgggggtggc ccgttcccct ttaagagcaa ctgctctaag
      301 ccaggagcca gagattcgag ccggcctcgc ccagccagcc ctctccagcg aggggaccca
      361 caagcggcgc ctcggccctc ccgacctttc cgagccctct ttgcgccctg ggcgcacggg
      421 gccctacacg cgccaagcat gctgagggtc ttcatcctct atgccgagaa cgtccacaca
      481 cccgacaccg acatcagcga tgcctactgc tccgcggtgt ttgcaggggt gaagaagaga
      541 accaaagtca tcaagaacag cgtgaaccct gtatggaatg agggatttga atgggacctc
      601 aagggcatcc ccctggacca gggctctgag cttcatgtgg tggtcaaaga ccatgagacg
      661 atggggagga acaggttcct gggggaagcc aaggtcccac tccgagaggt cctcgccacc
      721 cctagtctgt ccgccagctt caatgccccc ctgctggaca ccaagaagca gcccacaggg
      781 gcctcgctgg tcctgcaggt gtcctacaca ccgctgcctg gagctgtgcc cctgttcccg
      841 ccccctactc ctctggagcc ctccccgact ctgcctgacc tggatgtagt ggcaggcggg
      901 ggacagagcc gggccgagac ttggtccctg ctcagtgaca gcaccatgga cacgagatac
      961 tctggaaaga agtggccggc ccccacggac acaggaggag aggaagacac agaggaccag
     1021 ggactcactg gagatgaggc ggagccattc ctggatcaaa gcggaggccc gggggctccc
     1081 accaccccaa ggaaactacc ttcacgtcct ccgccccact accccgggat caaaagaaag
     1141 cgaagtgcgc ctacatctag aaagctgctg tcagacaaac cgcaggattt ccagatcagg
     1201 gtccaggtga tcgaggggcg ccagctgccg ggggtgaaca tcaagcctgt ggtcaaggtt
     1261 accgctgcag ggcagaccaa gcggacgcgg atccacaagg gaaacagccc actcttcaat
     1321 gagactcttt tcttcaactt gtttgactct cctggggagc tgtttgatga gcccatcttt
     1381 atcacggtgg tagactctcg ttctctcagg acagatgctc tcctcgggga gttccggatg
     1441 gacgtgggca ccatttacag agagccccgg cacgcctatc tcaggaagtg gctgctgctc
     1501 tcagaccctg atgacttctc tgctggggcc agaggctacc tgaaaacaag cctttgtgtg
     1561 ctggggcctg gggacgaagc gcctctggag agaaaagacc cctctgaaga caaggaggac
     1621 attgaaagca acctgctccg gcccacaggc gtagccctgc gaggagccca cttctgcctg
     1681 aaggtcttcc gggccgagga cttgccgcag atggacgatg ccgtgatgga caacgtgaaa
     1741 cagatctttg gcttcgagag taacaagaag aacttggtgg acccctttgt ggaggtcagc
     1801 tttgcgggga aaatgctgtg cagcaagatc ttggagaaga cggccaaccc tcagtggaac
     1861 cagaacatca cactgcctgc catgtttccc tccatgtgcg aaaaaatgag gattcgtatc
     1921 atagactggg accgcctgac tcacaatgac atcgtggcta ccacctacct gagtatgtcg
     1981 aaaatctctg cccctggagg agaaatagaa gtggatgact acctgggctt cctccccact
     2041 tttgggccct gctacatcaa cctctatggc agtcccagag agttcacagg cttcccagac
     2101 ccctacacag agctcaacac aggcaagggg gaaggtgtgg cttatcgtgg ccggcttctg
     2161 ctctccctgg agaccaagct ggtggagcac agtgaacaga aggtggagga ccttcctgcg
     2221 gatgacatcc tccgggtgga gaagtacctt aggaggcgca agtactccct gtttgcggcc
     2281 ttctactcag ccaccatgct gcaggatgtg gatgatgcca tccagtttga ggtcagcatc
     2341 gggaactacg ggaacaagtt cgacatgacc tgcctgccgc tggcctccac cactcagtac
     2401 agccgtgcag tctttgacgg gtgccactac tactacctac cctggggtaa cgtgaaacct
     2461 gtggtggtgc tgtcatccta ctgggaggac atcagccata gaatcgagac tcagaaccag
     2521 ctgcttggga ttgctgaccg gctggaagct ggcctggagc aggtccacct ggccctgaag
     2581 gcgcagtgct ccacggagga cgtggactcg ctggtggctc agctgacgga tgagctcatc
     2641 gcaggctgca gccagcctct gggtgacatc catgagacac cctctgccac ccacctggac
     2701 cagtacctgt accagctgcg cacccatcac ctgagccaaa tcactgaggc tgccctggcc
     2761 ctgaagctcg gccacagtga gctccctgca gctctggagc aggcggagga ctggctcctg
     2821 cgtctgcgtg ccctggcaga ggagccccag aacagcctgc cggacatcgt catctggatg
     2881 ctgcagggag acaagcgtgt ggcataccag cgggtgcccg cccaccaagt cctcttctcc
     2941 cggcggggtg ccaactactg tggcaagaat tgtgggaagc tacagacaat ctttctgaaa
     3001 tatccgatgg agaaggtgcc tggcgcccgg atgccagtgc agatacgggt caagctgtgg
     3061 tttgggctct cagtggatga gaaggagttc aaccagtttg ctgaggggaa gctgtctgtc
     3121 tttgctgaaa cctatgagaa cgagactaag ttggcccttg ttgggaactg gggcacaacg
     3181 ggcctcacct accccaagtt ttctgacgtc acgggcaaga tcaagctacc caaggacagc
     3241 ttccgcccct cggccggctg gacctgggct ggagattggt tcgtgtgtcc ggagaagact
     3301 ctgctccatg acatggacgc cggtcacctg agcttcgtgg aagaggtgtt tgagaaccag
     3361 acccggcttc ccggaggcca gtggatctac atgagtgaca actacaccga tgtgaacggg
     3421 gagaaggtgc ttcccaagga tgacattgag tgcccactgg gctggaagtg ggaagatgag
     3481 gaatggtcca cagacctcaa ccgggctgtc gatgagcaag gctgggagta tagcatcacc
     3541 atccccccgg agcggaagcc gaagcactgg gtccctgctg agaagatgta ctacacacac
     3601 cgacggcggc gctgggtgcg cctgcgcagg agggatctca gccaaatgga agcactgaaa
     3661 aggcacaggc aggcggaggc ggagggcgag ggctgggagt acgcctctct ttttggctgg
     3721 aagttccacc tcgagtaccg caagacagat gccttccgcc gccgccgctg gcgccgtcgc
     3781 atggagccac tggagaagac ggggcctgca gctgtgtttg cccttgaggg ggccctgggc
     3841 ggcgtgatgg atgacaagag tgaagattcc atgtccgtct ccaccttgag cttcggtgtg
     3901 aacagaccca cgatttcctg catattcgac tatgggaacc gctaccatct acgctgctac
     3961 atgtaccagg cccgggacct ggctgcgatg gacaaggact ctttttctga tccctatgcc
     4021 atcgtctcct tcctgcacca gagccagaag acggtggtgg tgaagaacac ccttaacccc
     4081 acctgggacc agacgctcat cttctacgag atcgagatct ttggcgagcc ggccacagtt
     4141 gctgagcaac cgcccagcat tgtggtggag ctgtacgacc atgacactta tggtgcagac
     4201 gagtttatgg gtcgctgcat ctgtcaaccg agtctggaac ggatgccacg gctggcctgg
     4261 ttcccactga cgaggggcag ccagccgtcg ggggagctgc tggcctcttt tgagctcatc
     4321 cagagagaga agccggccat ccaccatatt cctggttttg aggtgcagga gacatcaagg
     4381 atcctggatg agtctgagga cacagacctg ccctacccac caccccagag ggaggccaac
     4441 atctacatgg ttcctcagaa catcaagcca gcgctccagc gtaccgccat cgagatcctg
     4501 gcatggggcc tgcggaacat gaagagttac cagctggcca acatctcctc ccccagcctc
     4561 gtggtagagt gtgggggcca gacggtgcag tcctgtgtca tcaggaacct ccggaagaac
     4621 cccaactttg acatctgcac cctcttcatg gaagtgatgc tgcccaggga ggagctctac
     4681 tgccccccca tcaccgtcaa ggtcatcgat aaccgccagt ttggccgccg gcctgtggtg
     4741 ggccagtgta ccatccgctc cctggagagc ttcctgtgtg acccctactc ggcggagagt
     4801 ccatccccac agggtggccc agacgatgtg agcctactca gtcctgggga agacgtgctc
     4861 atcgacattg atgacaagga gcccctcatc cccatccagg aggaagagtt catcgattgg
     4921 tggagcaaat tctttgcctc cataggggag agggaaaagt gcggctccta cctggagaag
     4981 gattttgaca ccctgaaggt ctatgacaca cagctggaga atgtggaggc ctttgagggc
     5041 ctgtctgact tttgtaacac cttcaagctg taccggggca agacgcagga ggagacagaa
     5101 gatccatctg tgattggtga atttaagggc ctcttcaaaa tttatcccct cccagaagac
     5161 ccagccatcc ccatgccccc aagacagttc caccagctgg ccgcccaggg accccaggag
     5221 tgcttggtcc gtatctacat tgtccgagca tttggcctgc agcccaagga ccccaatgga
     5281 aagtgtgatc cttacatcaa gatctccata gggaagaaat cagtgagtga ccaggataac
     5341 tacatcccct gcacgctgga gcccgtattt ggaaagatgt tcgagctgac ctgcactctg
     5401 cctctggaga aggacctaaa gatcactctc tatgactatg acctcctctc caaggacgaa
     5461 aagatcggtg agacggtcgt cgacctggag aacaggctgc tgtccaagtt tggggctcgc
     5521 tgtggactcc cacagaccta ctgtgtctct ggaccgaacc agtggcggga ccagctccgc
     5581 ccctcccagc tcctccacct cttctgccag cagcatagag tcaaggcacc tgtgtaccgg
     5641 acagaccgtg taatgtttca ggataaagaa tattccattg aagagataga ggctggcagg
     5701 atcccaaacc cacacctggg cccagtggag gagcgtctgg ctctgcatgt gcttcagcag
     5761 cagggcctgg tcccggagca cgtggagtca cggcccctct acagccccct gcagccagac
     5821 atcgagcagg ggaagctgca gatgtgggtc gacctatttc cgaaggccct ggggcggcct
     5881 ggacctccct tcaacatcac cccacggaga gccagaaggt ttttcctgcg ttgtattatc
     5941 tggaatacca gagatgtgat cctggatgac ctgagcctca cgggggagaa gatgagcgac
     6001 atttatgtga aaggttggat gattggcttt gaagaacaca agcaaaagac agacgtgcat
     6061 tatcgttccc tgggaggtga aggcaacttc aactggaggt tcattttccc cttcgactac
     6121 ctgccagctg agcaagtctg taccattgcc aagaaggatg ccttctggag gctggacaag
     6181 actgagagca aaatcccagc acgagtggtg ttccagatct gggacaatga caagttctcc
     6241 tttgatgatt ttctgggctc cctgcagctc gatctcaacc gcatgcccaa gccagccaag
     6301 acagccaaga agtgctcctt ggaccagctg gatgatgctt tccacccaga atggtttgtg
     6361 tccctttttg agcagaaaac agtgaagggc tggtggccct gtgtagcaga agagggtgag
     6421 aagaaaatac tggcgggcaa gctggaaatg accttggaga ttgtagcaga gagtgagcat
     6481 gaggagcggc ctgctggcca gggccgggat gagcccaaca tgaaccctaa gcttgaggac
     6541 ccaaggcgcc ccgacacctc cttcctgtgg tttacctccc catacaagac catgaagttc
     6601 atcctgtggc ggcgtttccg gtgggccatc atcctcttca tcatcctctt catcctgctg
     6661 ctgttcctgg ccatcttcat ctacgccttc ccgaactatg ctgccatgaa gctggtgaag
     6721 cccttcagct gaggactctc ctgccctgta gaaggggccg tggggtcccc tccagcatgg
     6781 gactggcctg cctcctccgc ccagctcggc gagctcctcc agacctccta ggcctgattg
     6841 tcctgccagg gtgggcagac agacagatgg accggcccac actcccagag ttgctaacat
     6901 ggagctctga gatcacccca cttccatcat ttccttctcc cccaacccaa cgcttttttg
     6961 gatcagctca gacatatttc agtataaaac agttggaacc aca
//
