LOCUS       NM_001130985            6712 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens dysferlin (DYSF), transcript variant 4, mRNA.
ACCESSION   NM_001130985
VERSION     NM_001130985.2
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 6712)
  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 6712)
  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 6712)
  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 6712)
  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 6712)
  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 6712)
  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 6712)
  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 6712)
  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 6712)
  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 6712)
  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, EU515164.1,
            AF075575.1 and DB292971.1.
            
            On May 31, 2019 this sequence version replaced NM_001130985.1.
            
            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 (4) has multiple differences in
            the coding region but maintains the reading frame, compared to
            variant 1. This variant encodes isoform 4 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 :: EU515164.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [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
            4-2024              EU515164.1         1-2021
            2025-2780           AF075575.1         2200-2955
            2781-3206           DB292971.1         118-543
            3207-3731           EU515164.1         3204-3728
            3732-6712           AF075575.1         3907-6887
FEATURES             Location/Qualifiers
     source          1..6712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..6712
                     /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..6441
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="isoform 4 is encoded by transcript variant 4;
                     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 4"
                     /protein_id="NP_001124457.1"
                     /db_xref="CCDS:CCDS46329.1"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
                     /translation="MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVN
                     PVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASF
                     NAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRA
                     ETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTP
                     RKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVT
                     AAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFR
                     MDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED
                     KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDP
                     FVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVA
                     TTYLSMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGE
                     GVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQD
                     VDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSY
                     WEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQ
                     PLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLR
                     ALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKY
                     PMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGT
                     TGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVF
                     ENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGW
                     EYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWE
                     YASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSM
                     SVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQ
                     KTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCI
                     CQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDES
                     EDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVE
                     CGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVG
                     QCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFID
                     WWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQE
                     ETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQP
                     KDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDY
                     DLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQ
                     HRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVE
                     SRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVI
                     LDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQ
                     VCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAK
                     KCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHE
                     ERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFIL
                     LLFLAIFIYAFPNYAAMKLVKPFS"
     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..697
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            698..903
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1032
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1095
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1146
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1177
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1293
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1420
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1524
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1525..1593
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1637
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..1720
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1721..1836
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1837..1950
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2128
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2129..2253
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2254..2360
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2361..2553
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2554..2709
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2710..2841
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2842..3008
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3009..3123
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3124..3229
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3230..3372
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3373..3546
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3547..3640
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3641..3718
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3719..3900
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3901..4041
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4042..4071
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4072..4101
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4102..4203
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4204..4365
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4366..4531
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4532..4608
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4609..4707
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4708..4836
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4837..4992
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4993..5084
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5085..5255
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5256..5398
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5399..5538
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5539..5627
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5628..5723
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5724..5865
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5866..5965
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5966..6144
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6145..6254
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6255..6402
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6403..6712
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6692..6697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="hexamer: TATAAA"
     polyA_site      6712
                     /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 gcaggcgggg gacagagccg ggccgagact tggtccctgc tcagtgacag caccatggac
      661 acgagatact ctggaaagaa gtggccggcc cccacggaca caggaggaga ggaagacaca
      721 gaggaccagg gactcactgg agatgaggcg gagccattcc tggatcaaag cggaggcccg
      781 ggggctccca ccaccccaag gaaactacct tcacgtcctc cgccccacta ccccgggatc
      841 aaaagaaagc gaagtgcgcc tacatctaga aagctgctgt cagacaaacc gcaggatttc
      901 cagatcaggg tccaggtgat cgaggggcgc cagctgccgg gggtgaacat caagcctgtg
      961 gtcaaggtta ccgctgcagg gcagaccaag cggacgcgga tccacaaggg aaacagccca
     1021 ctcttcaatg agactctttt cttcaacttg tttgactctc ctggggagct gtttgatgag
     1081 cccatcttta tcacggtggt agactctcgt tctctcagga cagatgctct cctcggggag
     1141 ttccggatgg acgtgggcac catttacaga gagccccggc acgcctatct caggaagtgg
     1201 ctgctgctct cagaccctga tgacttctct gctggggcca gaggctacct gaaaacaagc
     1261 ctttgtgtgc tggggcctgg ggacgaagcg cctctggaga gaaaagaccc ctctgaagac
     1321 aaggaggaca ttgaaagcaa cctgctccgg cccacaggcg tagccctgcg aggagcccac
     1381 ttctgcctga aggtcttccg ggccgaggac ttgccgcaga tggacgatgc cgtgatggac
     1441 aacgtgaaac agatctttgg cttcgagagt aacaagaaga acttggtgga cccctttgtg
     1501 gaggtcagct ttgcggggaa aatgctgtgc agcaagatct tggagaagac ggccaaccct
     1561 cagtggaacc agaacatcac actgcctgcc atgtttccct ccatgtgcga aaaaatgagg
     1621 attcgtatca tagactggga ccgcctgact cacaatgaca tcgtggctac cacctacctg
     1681 agtatgtcga aaatctctgc ccctggagga gaaatagaag tggatgacta cctgggcttc
     1741 ctccccactt ttgggccctg ctacatcaac ctctatggca gtcccagaga gttcacaggc
     1801 ttcccagacc cctacacaga gctcaacaca ggcaaggggg aaggtgtggc ttatcgtggc
     1861 cggcttctgc tctccctgga gaccaagctg gtggagcaca gtgaacagaa ggtggaggac
     1921 cttcctgcgg atgacatcct ccgggtggag aagtacctta ggaggcgcaa gtactccctg
     1981 tttgcggcct tctactcagc caccatgctg caggatgtgg atgatgccat ccagtttgag
     2041 gtcagcatcg ggaactacgg gaacaagttc gacatgacct gcctgccgct ggcctccacc
     2101 actcagtaca gccgtgcagt ctttgacggg tgccactact actacctacc ctggggtaac
     2161 gtgaaacctg tggtggtgct gtcatcctac tgggaggaca tcagccatag aatcgagact
     2221 cagaaccagc tgcttgggat tgctgaccgg ctggaagctg gcctggagca ggtccacctg
     2281 gccctgaagg cgcagtgctc cacggaggac gtggactcgc tggtggctca gctgacggat
     2341 gagctcatcg caggctgcag ccagcctctg ggtgacatcc atgagacacc ctctgccacc
     2401 cacctggacc agtacctgta ccagctgcgc acccatcacc tgagccaaat cactgaggct
     2461 gccctggccc tgaagctcgg ccacagtgag ctccctgcag ctctggagca ggcggaggac
     2521 tggctcctgc gtctgcgtgc cctggcagag gagccccaga acagcctgcc ggacatcgtc
     2581 atctggatgc tgcagggaga caagcgtgtg gcataccagc gggtgcccgc ccaccaagtc
     2641 ctcttctccc ggcggggtgc caactactgt ggcaagaatt gtgggaagct acagacaatc
     2701 tttctgaaat atccgatgga gaaggtgcct ggcgcccgga tgccagtgca gatacgggtc
     2761 aagctgtggt ttgggctctc agtggatgag aaggagttca accagtttgc tgaggggaag
     2821 ctgtctgtct ttgctgaaac ctatgagaac gagactaagt tggcccttgt tgggaactgg
     2881 ggcacaacgg gcctcaccta ccccaagttt tctgacgtca cgggcaagat caagctaccc
     2941 aaggacagct tccgcccctc ggccggctgg acctgggctg gagattggtt cgtgtgtccg
     3001 gagaagactc tgctccatga catggacgcc ggtcacctga gcttcgtgga agaggtgttt
     3061 gagaaccaga cccggcttcc cggaggccag tggatctaca tgagtgacaa ctacaccgat
     3121 gtgaacgggg agaaggtgct tcccaaggat gacattgagt gcccactggg ctggaagtgg
     3181 gaagatgagg aatggtccac agacctcaac cgggctgtcg atgagcaagg ctgggagtat
     3241 agcatcacca tccccccgga gcggaagccg aagcactggg tccctgctga gaagatgtac
     3301 tacacacacc gacggcggcg ctgggtgcgc ctgcgcagga gggatctcag ccaaatggaa
     3361 gcactgaaaa ggcacaggca ggcggaggcg gagggcgagg gctgggagta cgcctctctt
     3421 tttggctgga agttccacct cgagtaccgc aagacagatg ccttccgccg ccgccgctgg
     3481 cgccgtcgca tggagccact ggagaagacg gggcctgcag ctgtgtttgc ccttgagggg
     3541 gccctgggcg gcgtgatgga tgacaagagt gaagattcca tgtccgtctc caccttgagc
     3601 ttcggtgtga acagacccac gatttcctgc atattcgact atgggaaccg ctaccatcta
     3661 cgctgctaca tgtaccaggc ccgggacctg gctgcgatgg acaaggactc tttttctgat
     3721 ccctatgcca tcgtctcctt cctgcaccag agccagaaga cggtggtggt gaagaacacc
     3781 cttaacccca cctgggacca gacgctcatc ttctacgaga tcgagatctt tggcgagccg
     3841 gccacagttg ctgagcaacc gcccagcatt gtggtggagc tgtacgacca tgacacttat
     3901 ggtgcagacg agtttatggg tcgctgcatc tgtcaaccga gtctggaacg gatgccacgg
     3961 ctggcctggt tcccactgac gaggggcagc cagccgtcgg gggagctgct ggcctctttt
     4021 gagctcatcc agagagagaa gccggccatc caccatattc ctggttttga ggtgcaggag
     4081 acatcaagga tcctggatga gtctgaggac acagacctgc cctacccacc accccagagg
     4141 gaggccaaca tctacatggt tcctcagaac atcaagccag cgctccagcg taccgccatc
     4201 gagatcctgg catggggcct gcggaacatg aagagttacc agctggccaa catctcctcc
     4261 cccagcctcg tggtagagtg tgggggccag acggtgcagt cctgtgtcat caggaacctc
     4321 cggaagaacc ccaactttga catctgcacc ctcttcatgg aagtgatgct gcccagggag
     4381 gagctctact gcccccccat caccgtcaag gtcatcgata accgccagtt tggccgccgg
     4441 cctgtggtgg gccagtgtac catccgctcc ctggagagct tcctgtgtga cccctactcg
     4501 gcggagagtc catccccaca gggtggccca gacgatgtga gcctactcag tcctggggaa
     4561 gacgtgctca tcgacattga tgacaaggag cccctcatcc ccatccagga ggaagagttc
     4621 atcgattggt ggagcaaatt ctttgcctcc ataggggaga gggaaaagtg cggctcctac
     4681 ctggagaagg attttgacac cctgaaggtc tatgacacac agctggagaa tgtggaggcc
     4741 tttgagggcc tgtctgactt ttgtaacacc ttcaagctgt accggggcaa gacgcaggag
     4801 gagacagaag atccatctgt gattggtgaa tttaagggcc tcttcaaaat ttatcccctc
     4861 ccagaagacc cagccatccc catgccccca agacagttcc accagctggc cgcccaggga
     4921 ccccaggagt gcttggtccg tatctacatt gtccgagcat ttggcctgca gcccaaggac
     4981 cccaatggaa agtgtgatcc ttacatcaag atctccatag ggaagaaatc agtgagtgac
     5041 caggataact acatcccctg cacgctggag cccgtatttg gaaagatgtt cgagctgacc
     5101 tgcactctgc ctctggagaa ggacctaaag atcactctct atgactatga cctcctctcc
     5161 aaggacgaaa agatcggtga gacggtcgtc gacctggaga acaggctgct gtccaagttt
     5221 ggggctcgct gtggactccc acagacctac tgtgtctctg gaccgaacca gtggcgggac
     5281 cagctccgcc cctcccagct cctccacctc ttctgccagc agcatagagt caaggcacct
     5341 gtgtaccgga cagaccgtgt aatgtttcag gataaagaat attccattga agagatagag
     5401 gctggcagga tcccaaaccc acacctgggc ccagtggagg agcgtctggc tctgcatgtg
     5461 cttcagcagc agggcctggt cccggagcac gtggagtcac ggcccctcta cagccccctg
     5521 cagccagaca tcgagcaggg gaagctgcag atgtgggtcg acctatttcc gaaggccctg
     5581 gggcggcctg gacctccctt caacatcacc ccacggagag ccagaaggtt tttcctgcgt
     5641 tgtattatct ggaataccag agatgtgatc ctggatgacc tgagcctcac gggggagaag
     5701 atgagcgaca tttatgtgaa aggttggatg attggctttg aagaacacaa gcaaaagaca
     5761 gacgtgcatt atcgttccct gggaggtgaa ggcaacttca actggaggtt cattttcccc
     5821 ttcgactacc tgccagctga gcaagtctgt accattgcca agaaggatgc cttctggagg
     5881 ctggacaaga ctgagagcaa aatcccagca cgagtggtgt tccagatctg ggacaatgac
     5941 aagttctcct ttgatgattt tctgggctcc ctgcagctcg atctcaaccg catgcccaag
     6001 ccagccaaga cagccaagaa gtgctccttg gaccagctgg atgatgcttt ccacccagaa
     6061 tggtttgtgt ccctttttga gcagaaaaca gtgaagggct ggtggccctg tgtagcagaa
     6121 gagggtgaga agaaaatact ggcgggcaag ctggaaatga ccttggagat tgtagcagag
     6181 agtgagcatg aggagcggcc tgctggccag ggccgggatg agcccaacat gaaccctaag
     6241 cttgaggacc caaggcgccc cgacacctcc ttcctgtggt ttacctcccc atacaagacc
     6301 atgaagttca tcctgtggcg gcgtttccgg tgggccatca tcctcttcat catcctcttc
     6361 atcctgctgc tgttcctggc catcttcatc tacgccttcc cgaactatgc tgccatgaag
     6421 ctggtgaagc ccttcagctg aggactctcc tgccctgtag aaggggccgt ggggtcccct
     6481 ccagcatggg actggcctgc ctcctccgcc cagctcggcg agctcctcca gacctcctag
     6541 gcctgattgt cctgccaggg tgggcagaca gacagatgga ccggcccaca ctcccagagt
     6601 tgctaacatg gagctctgag atcaccccac ttccatcatt tccttctccc ccaacccaac
     6661 gcttttttgg atcagctcag acatatttca gtataaaaca gttggaacca ca
//
