LOCUS       NM_003494               6952 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens dysferlin (DYSF), transcript variant 8, mRNA.
ACCESSION   NM_003494
VERSION     NM_003494.4
KEYWORDS    RefSeq; MANE Plus Clinical.
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 6952)
  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 6952)
  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 6952)
  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 6952)
  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 6952)
  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 6952)
  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 6952)
  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 6952)
  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 6952)
  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 6952)
  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,
            AF075575.1, AI128455.1 and DB292971.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 31, 2019 this sequence version replaced NM_003494.3.
            
            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 (8) 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 (8) 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 :: AF075575.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000258104.8/ ENSP00000258104.3
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AC104084.5         18739-18800
            63-69               AI192657.1         1-7
            70-224              AF075575.1         5-159
            225-526             AI128455.1         163-464
            527-3020            AF075575.1         462-2955
            3021-3446           DB292971.1         118-543
            3447-6952           AF075575.1         3382-6887
FEATURES             Location/Qualifiers
     source          1..6952
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..6952
                     /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..6681
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="isoform 8 is encoded by transcript variant 8;
                     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 8"
                     /protein_id="NP_003485.1"
                     /db_xref="CCDS:CCDS1918.1"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
                     /translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
                     VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
                     APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDT
                     EDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQ
                     DFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGE
                     LFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGAR
                     GYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLP
                     QMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
                     MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDL
                     DDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVE
                     HSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKF
                     DMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIA
                     DRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYL
                     YQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWML
                     QGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKL
                     WFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLP
                     KDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNY
                     TDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPA
                     EKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDA
                     FRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIF
                     DYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLI
                     FYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTR
                     GSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYM
                     VPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNP
                     NFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAE
                     SPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSY
                     LEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIY
                     PLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKK
                     SVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLEN
                     RLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDK
                     EYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQ
                     MWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKG
                     WMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTES
                     KIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVS
                     LFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLE
                     DPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMK
                     LVKPFS"
     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..1101
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1230
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1293
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1344
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1375
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1491
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1618
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1722
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1723..1791
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1835
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..1918
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..1960
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2076
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2077..2190
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2191..2368
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2369..2493
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2494..2600
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2601..2793
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2794..2949
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2950..3081
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3082..3248
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3249..3363
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3364..3469
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3470..3612
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3613..3786
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3787..3880
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3881..3958
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3959..4140
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4141..4281
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4282..4311
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4312..4341
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4342..4443
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4444..4605
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4606..4771
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4772..4848
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4849..4947
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4948..5076
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5077..5232
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5233..5324
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5325..5495
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5496..5638
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5639..5778
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5779..5867
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5868..5963
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5964..6105
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6106..6205
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6206..6384
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6385..6494
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6495..6642
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6643..6952
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6932..6937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="hexamer: TATAAA"
     polyA_site      6952
                     /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 ggcagacaca
      901 ggaggagagg aagacacaga ggaccaggga ctcactggag atgaggcgga gccattcctg
      961 gatcaaagcg gaggcccggg ggctcccacc accccaagga aactaccttc acgtcctccg
     1021 ccccactacc ccgggatcaa aagaaagcga agtgcgccta catctagaaa gctgctgtca
     1081 gacaaaccgc aggatttcca gatcagggtc caggtgatcg aggggcgcca gctgccgggg
     1141 gtgaacatca agcctgtggt caaggttacc gctgcagggc agaccaagcg gacgcggatc
     1201 cacaagggaa acagcccact cttcaatgag actcttttct tcaacttgtt tgactctcct
     1261 ggggagctgt ttgatgagcc catctttatc acggtggtag actctcgttc tctcaggaca
     1321 gatgctctcc tcggggagtt ccggatggac gtgggcacca tttacagaga gccccggcac
     1381 gcctatctca ggaagtggct gctgctctca gaccctgatg acttctctgc tggggccaga
     1441 ggctacctga aaacaagcct ttgtgtgctg gggcctgggg acgaagcgcc tctggagaga
     1501 aaagacccct ctgaagacaa ggaggacatt gaaagcaacc tgctccggcc cacaggcgta
     1561 gccctgcgag gagcccactt ctgcctgaag gtcttccggg ccgaggactt gccgcagatg
     1621 gacgatgccg tgatggacaa cgtgaaacag atctttggct tcgagagtaa caagaagaac
     1681 ttggtggacc cctttgtgga ggtcagcttt gcggggaaaa tgctgtgcag caagatcttg
     1741 gagaagacgg ccaaccctca gtggaaccag aacatcacac tgcctgccat gtttccctcc
     1801 atgtgcgaaa aaatgaggat tcgtatcata gactgggacc gcctgactca caatgacatc
     1861 gtggctacca cctacctgag tatgtcgaaa atctctgccc ctggaggaga aatagaagag
     1921 gagcctgcag gtgctgtcaa gccttcgaaa gcctcagact tggatgacta cctgggcttc
     1981 ctccccactt ttgggccctg ctacatcaac ctctatggca gtcccagaga gttcacaggc
     2041 ttcccagacc cctacacaga gctcaacaca ggcaaggggg aaggtgtggc ttatcgtggc
     2101 cggcttctgc tctccctgga gaccaagctg gtggagcaca gtgaacagaa ggtggaggac
     2161 cttcctgcgg atgacatcct ccgggtggag aagtacctta ggaggcgcaa gtactccctg
     2221 tttgcggcct tctactcagc caccatgctg caggatgtgg atgatgccat ccagtttgag
     2281 gtcagcatcg ggaactacgg gaacaagttc gacatgacct gcctgccgct ggcctccacc
     2341 actcagtaca gccgtgcagt ctttgacggg tgccactact actacctacc ctggggtaac
     2401 gtgaaacctg tggtggtgct gtcatcctac tgggaggaca tcagccatag aatcgagact
     2461 cagaaccagc tgcttgggat tgctgaccgg ctggaagctg gcctggagca ggtccacctg
     2521 gccctgaagg cgcagtgctc cacggaggac gtggactcgc tggtggctca gctgacggat
     2581 gagctcatcg caggctgcag ccagcctctg ggtgacatcc atgagacacc ctctgccacc
     2641 cacctggacc agtacctgta ccagctgcgc acccatcacc tgagccaaat cactgaggct
     2701 gccctggccc tgaagctcgg ccacagtgag ctccctgcag ctctggagca ggcggaggac
     2761 tggctcctgc gtctgcgtgc cctggcagag gagccccaga acagcctgcc ggacatcgtc
     2821 atctggatgc tgcagggaga caagcgtgtg gcataccagc gggtgcccgc ccaccaagtc
     2881 ctcttctccc ggcggggtgc caactactgt ggcaagaatt gtgggaagct acagacaatc
     2941 tttctgaaat atccgatgga gaaggtgcct ggcgcccgga tgccagtgca gatacgggtc
     3001 aagctgtggt ttgggctctc agtggatgag aaggagttca accagtttgc tgaggggaag
     3061 ctgtctgtct ttgctgaaac ctatgagaac gagactaagt tggcccttgt tgggaactgg
     3121 ggcacaacgg gcctcaccta ccccaagttt tctgacgtca cgggcaagat caagctaccc
     3181 aaggacagct tccgcccctc ggccggctgg acctgggctg gagattggtt cgtgtgtccg
     3241 gagaagactc tgctccatga catggacgcc ggtcacctga gcttcgtgga agaggtgttt
     3301 gagaaccaga cccggcttcc cggaggccag tggatctaca tgagtgacaa ctacaccgat
     3361 gtgaacgggg agaaggtgct tcccaaggat gacattgagt gcccactggg ctggaagtgg
     3421 gaagatgagg aatggtccac agacctcaac cgggctgtcg atgagcaagg ctgggagtat
     3481 agcatcacca tccccccgga gcggaagccg aagcactggg tccctgctga gaagatgtac
     3541 tacacacacc gacggcggcg ctgggtgcgc ctgcgcagga gggatctcag ccaaatggaa
     3601 gcactgaaaa ggcacaggca ggcggaggcg gagggcgagg gctgggagta cgcctctctt
     3661 tttggctgga agttccacct cgagtaccgc aagacagatg ccttccgccg ccgccgctgg
     3721 cgccgtcgca tggagccact ggagaagacg gggcctgcag ctgtgtttgc ccttgagggg
     3781 gccctgggcg gcgtgatgga tgacaagagt gaagattcca tgtccgtctc caccttgagc
     3841 ttcggtgtga acagacccac gatttcctgc atattcgact atgggaaccg ctaccatcta
     3901 cgctgctaca tgtaccaggc ccgggacctg gctgcgatgg acaaggactc tttttctgat
     3961 ccctatgcca tcgtctcctt cctgcaccag agccagaaga cggtggtggt gaagaacacc
     4021 cttaacccca cctgggacca gacgctcatc ttctacgaga tcgagatctt tggcgagccg
     4081 gccacagttg ctgagcaacc gcccagcatt gtggtggagc tgtacgacca tgacacttat
     4141 ggtgcagacg agtttatggg tcgctgcatc tgtcaaccga gtctggaacg gatgccacgg
     4201 ctggcctggt tcccactgac gaggggcagc cagccgtcgg gggagctgct ggcctctttt
     4261 gagctcatcc agagagagaa gccggccatc caccatattc ctggttttga ggtgcaggag
     4321 acatcaagga tcctggatga gtctgaggac acagacctgc cctacccacc accccagagg
     4381 gaggccaaca tctacatggt tcctcagaac atcaagccag cgctccagcg taccgccatc
     4441 gagatcctgg catggggcct gcggaacatg aagagttacc agctggccaa catctcctcc
     4501 cccagcctcg tggtagagtg tgggggccag acggtgcagt cctgtgtcat caggaacctc
     4561 cggaagaacc ccaactttga catctgcacc ctcttcatgg aagtgatgct gcccagggag
     4621 gagctctact gcccccccat caccgtcaag gtcatcgata accgccagtt tggccgccgg
     4681 cctgtggtgg gccagtgtac catccgctcc ctggagagct tcctgtgtga cccctactcg
     4741 gcggagagtc catccccaca gggtggccca gacgatgtga gcctactcag tcctggggaa
     4801 gacgtgctca tcgacattga tgacaaggag cccctcatcc ccatccagga ggaagagttc
     4861 atcgattggt ggagcaaatt ctttgcctcc ataggggaga gggaaaagtg cggctcctac
     4921 ctggagaagg attttgacac cctgaaggtc tatgacacac agctggagaa tgtggaggcc
     4981 tttgagggcc tgtctgactt ttgtaacacc ttcaagctgt accggggcaa gacgcaggag
     5041 gagacagaag atccatctgt gattggtgaa tttaagggcc tcttcaaaat ttatcccctc
     5101 ccagaagacc cagccatccc catgccccca agacagttcc accagctggc cgcccaggga
     5161 ccccaggagt gcttggtccg tatctacatt gtccgagcat ttggcctgca gcccaaggac
     5221 cccaatggaa agtgtgatcc ttacatcaag atctccatag ggaagaaatc agtgagtgac
     5281 caggataact acatcccctg cacgctggag cccgtatttg gaaagatgtt cgagctgacc
     5341 tgcactctgc ctctggagaa ggacctaaag atcactctct atgactatga cctcctctcc
     5401 aaggacgaaa agatcggtga gacggtcgtc gacctggaga acaggctgct gtccaagttt
     5461 ggggctcgct gtggactccc acagacctac tgtgtctctg gaccgaacca gtggcgggac
     5521 cagctccgcc cctcccagct cctccacctc ttctgccagc agcatagagt caaggcacct
     5581 gtgtaccgga cagaccgtgt aatgtttcag gataaagaat attccattga agagatagag
     5641 gctggcagga tcccaaaccc acacctgggc ccagtggagg agcgtctggc tctgcatgtg
     5701 cttcagcagc agggcctggt cccggagcac gtggagtcac ggcccctcta cagccccctg
     5761 cagccagaca tcgagcaggg gaagctgcag atgtgggtcg acctatttcc gaaggccctg
     5821 gggcggcctg gacctccctt caacatcacc ccacggagag ccagaaggtt tttcctgcgt
     5881 tgtattatct ggaataccag agatgtgatc ctggatgacc tgagcctcac gggggagaag
     5941 atgagcgaca tttatgtgaa aggttggatg attggctttg aagaacacaa gcaaaagaca
     6001 gacgtgcatt atcgttccct gggaggtgaa ggcaacttca actggaggtt cattttcccc
     6061 ttcgactacc tgccagctga gcaagtctgt accattgcca agaaggatgc cttctggagg
     6121 ctggacaaga ctgagagcaa aatcccagca cgagtggtgt tccagatctg ggacaatgac
     6181 aagttctcct ttgatgattt tctgggctcc ctgcagctcg atctcaaccg catgcccaag
     6241 ccagccaaga cagccaagaa gtgctccttg gaccagctgg atgatgcttt ccacccagaa
     6301 tggtttgtgt ccctttttga gcagaaaaca gtgaagggct ggtggccctg tgtagcagaa
     6361 gagggtgaga agaaaatact ggcgggcaag ctggaaatga ccttggagat tgtagcagag
     6421 agtgagcatg aggagcggcc tgctggccag ggccgggatg agcccaacat gaaccctaag
     6481 cttgaggacc caaggcgccc cgacacctcc ttcctgtggt ttacctcccc atacaagacc
     6541 atgaagttca tcctgtggcg gcgtttccgg tgggccatca tcctcttcat catcctcttc
     6601 atcctgctgc tgttcctggc catcttcatc tacgccttcc cgaactatgc tgccatgaag
     6661 ctggtgaagc ccttcagctg aggactctcc tgccctgtag aaggggccgt ggggtcccct
     6721 ccagcatggg actggcctgc ctcctccgcc cagctcggcg agctcctcca gacctcctag
     6781 gcctgattgt cctgccaggg tgggcagaca gacagatgga ccggcccaca ctcccagagt
     6841 tgctaacatg gagctctgag atcaccccac ttccatcatt tccttctccc ccaacccaac
     6901 gcttttttgg atcagctcag acatatttca gtataaaaca gttggaacca ca
//
