LOCUS       NM_001130977            6973 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens dysferlin (DYSF), transcript variant 10, mRNA.
ACCESSION   NM_001130977
VERSION     NM_001130977.2
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 6973)
  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 6973)
  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 6973)
  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 6973)
  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 6973)
  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 6973)
  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 6973)
  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 6973)
  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 6973)
  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 6973)
  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,
            EU515159.1, AI739271.1, DB292971.1 and AK074649.1.
            
            On May 31, 2019 this sequence version replaced NM_001130977.1.
            
            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 (10) 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 (10) 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 :: EU515159.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AC104084.5         18739-18800
            63-161              AI192657.1         1-99
            162-224             EU515159.1         1-63
            225-419             AI739271.1         122-316
            420-2978            EU515159.1         259-2817
            2979-3404           DB292971.1         118-543
            3405-6858           EU515159.1         3244-6697
            6859-6973           AK074649.1         1913-2027
FEATURES             Location/Qualifiers
     source          1..6973
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..6973
                     /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..6702
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="isoform 10 is encoded by transcript variant 10;
                     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 10"
                     /protein_id="NP_001124449.1"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
                     /translation="MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNP
                     VWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFN
                     APLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDT
                     EDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQ
                     DFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGE
                     LFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGAR
                     GYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLP
                     QMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
                     MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEVDDYLGFLPTFGPCY
                     INLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDI
                     LRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYS
                     RAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLAL
                     KAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEA
                     ALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAH
                     QVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQF
                     AEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAG
                     DWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDI
                     ECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVR
                     LRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLE
                     KTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQ
                     ARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVA
                     EQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFEL
                     IQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAI
                     EILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLP
                     REELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLL
                     SPGEDVLIDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEEEFIDWWSKFFASIGE
                     REKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEF
                     KGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYI
                     KISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGE
                     TVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTD
                     RVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPD
                     IEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKM
                     SDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFW
                     RLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAF
                     HPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEP
                     NMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAF
                     PNYAAMKLVKPFS"
     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..2034
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2035..2148
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2149..2326
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2327..2451
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2452..2558
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2559..2751
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2752..2907
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2908..3039
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3040..3206
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3207..3321
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3322..3427
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3428..3570
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3571..3744
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3745..3838
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3839..3916
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            3917..4098
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4099..4239
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4240..4269
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4270..4299
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4300..4401
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4402..4563
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4564..4729
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4730..4806
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4807..4869
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4870..4968
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            4969..5097
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5098..5253
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5254..5345
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5346..5516
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5517..5659
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5660..5799
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5800..5888
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5889..5984
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            5985..6126
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6127..6226
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6227..6405
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6406..6515
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6516..6663
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            6664..6973
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6953..6958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /note="hexamer: TATAAA"
     polyA_site      6973
                     /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 aatagaagtg
     1921 gatgactacc tgggcttcct ccccactttt gggccctgct acatcaacct ctatggcagt
     1981 cccagagagt tcacaggctt cccagacccc tacacagagc tcaacacagg caagggggaa
     2041 ggtgtggctt atcgtggccg gcttctgctc tccctggaga ccaagctggt ggagcacagt
     2101 gaacagaagg tggaggacct tcctgcggat gacatcctcc gggtggagaa gtaccttagg
     2161 aggcgcaagt actccctgtt tgcggccttc tactcagcca ccatgctgca ggatgtggat
     2221 gatgccatcc agtttgaggt cagcatcggg aactacggga acaagttcga catgacctgc
     2281 ctgccgctgg cctccaccac tcagtacagc cgtgcagtct ttgacgggtg ccactactac
     2341 tacctaccct ggggtaacgt gaaacctgtg gtggtgctgt catcctactg ggaggacatc
     2401 agccatagaa tcgagactca gaaccagctg cttgggattg ctgaccggct ggaagctggc
     2461 ctggagcagg tccacctggc cctgaaggcg cagtgctcca cggaggacgt ggactcgctg
     2521 gtggctcagc tgacggatga gctcatcgca ggctgcagcc agcctctggg tgacatccat
     2581 gagacaccct ctgccaccca cctggaccag tacctgtacc agctgcgcac ccatcacctg
     2641 agccaaatca ctgaggctgc cctggccctg aagctcggcc acagtgagct ccctgcagct
     2701 ctggagcagg cggaggactg gctcctgcgt ctgcgtgccc tggcagagga gccccagaac
     2761 agcctgccgg acatcgtcat ctggatgctg cagggagaca agcgtgtggc ataccagcgg
     2821 gtgcccgccc accaagtcct cttctcccgg cggggtgcca actactgtgg caagaattgt
     2881 gggaagctac agacaatctt tctgaaatat ccgatggaga aggtgcctgg cgcccggatg
     2941 ccagtgcaga tacgggtcaa gctgtggttt gggctctcag tggatgagaa ggagttcaac
     3001 cagtttgctg aggggaagct gtctgtcttt gctgaaacct atgagaacga gactaagttg
     3061 gcccttgttg ggaactgggg cacaacgggc ctcacctacc ccaagttttc tgacgtcacg
     3121 ggcaagatca agctacccaa ggacagcttc cgcccctcgg ccggctggac ctgggctgga
     3181 gattggttcg tgtgtccgga gaagactctg ctccatgaca tggacgccgg tcacctgagc
     3241 ttcgtggaag aggtgtttga gaaccagacc cggcttcccg gaggccagtg gatctacatg
     3301 agtgacaact acaccgatgt gaacggggag aaggtgcttc ccaaggatga cattgagtgc
     3361 ccactgggct ggaagtggga agatgaggaa tggtccacag acctcaaccg ggctgtcgat
     3421 gagcaaggct gggagtatag catcaccatc cccccggagc ggaagccgaa gcactgggtc
     3481 cctgctgaga agatgtacta cacacaccga cggcggcgct gggtgcgcct gcgcaggagg
     3541 gatctcagcc aaatggaagc actgaaaagg cacaggcagg cggaggcgga gggcgagggc
     3601 tgggagtacg cctctctttt tggctggaag ttccacctcg agtaccgcaa gacagatgcc
     3661 ttccgccgcc gccgctggcg ccgtcgcatg gagccactgg agaagacggg gcctgcagct
     3721 gtgtttgccc ttgagggggc cctgggcggc gtgatggatg acaagagtga agattccatg
     3781 tccgtctcca ccttgagctt cggtgtgaac agacccacga tttcctgcat attcgactat
     3841 gggaaccgct accatctacg ctgctacatg taccaggccc gggacctggc tgcgatggac
     3901 aaggactctt tttctgatcc ctatgccatc gtctccttcc tgcaccagag ccagaagacg
     3961 gtggtggtga agaacaccct taaccccacc tgggaccaga cgctcatctt ctacgagatc
     4021 gagatctttg gcgagccggc cacagttgct gagcaaccgc ccagcattgt ggtggagctg
     4081 tacgaccatg acacttatgg tgcagacgag tttatgggtc gctgcatctg tcaaccgagt
     4141 ctggaacgga tgccacggct ggcctggttc ccactgacga ggggcagcca gccgtcgggg
     4201 gagctgctgg cctcttttga gctcatccag agagagaagc cggccatcca ccatattcct
     4261 ggttttgagg tgcaggagac atcaaggatc ctggatgagt ctgaggacac agacctgccc
     4321 tacccaccac cccagaggga ggccaacatc tacatggttc ctcagaacat caagccagcg
     4381 ctccagcgta ccgccatcga gatcctggca tggggcctgc ggaacatgaa gagttaccag
     4441 ctggccaaca tctcctcccc cagcctcgtg gtagagtgtg ggggccagac ggtgcagtcc
     4501 tgtgtcatca ggaacctccg gaagaacccc aactttgaca tctgcaccct cttcatggaa
     4561 gtgatgctgc ccagggagga gctctactgc ccccccatca ccgtcaaggt catcgataac
     4621 cgccagtttg gccgccggcc tgtggtgggc cagtgtacca tccgctccct ggagagcttc
     4681 ctgtgtgacc cctactcggc ggagagtcca tccccacagg gtggcccaga cgatgtgagc
     4741 ctactcagtc ctggggaaga cgtgctcatc gacattgatg acaaggagcc cctcatcccc
     4801 atccagcttg cagacggtct gtcgagcttg gcccccacta acacggcttc tcctccatcc
     4861 agtcctcatg aggaagagtt catcgattgg tggagcaaat tctttgcctc cataggggag
     4921 agggaaaagt gcggctccta cctggagaag gattttgaca ccctgaaggt ctatgacaca
     4981 cagctggaga atgtggaggc ctttgagggc ctgtctgact tttgtaacac cttcaagctg
     5041 taccggggca agacgcagga ggagacagaa gatccatctg tgattggtga atttaagggc
     5101 ctcttcaaaa tttatcccct cccagaagac ccagccatcc ccatgccccc aagacagttc
     5161 caccagctgg ccgcccaggg accccaggag tgcttggtcc gtatctacat tgtccgagca
     5221 tttggcctgc agcccaagga ccccaatgga aagtgtgatc cttacatcaa gatctccata
     5281 gggaagaaat cagtgagtga ccaggataac tacatcccct gcacgctgga gcccgtattt
     5341 ggaaagatgt tcgagctgac ctgcactctg cctctggaga aggacctaaa gatcactctc
     5401 tatgactatg acctcctctc caaggacgaa aagatcggtg agacggtcgt cgacctggag
     5461 aacaggctgc tgtccaagtt tggggctcgc tgtggactcc cacagaccta ctgtgtctct
     5521 ggaccgaacc agtggcggga ccagctccgc ccctcccagc tcctccacct cttctgccag
     5581 cagcatagag tcaaggcacc tgtgtaccgg acagaccgtg taatgtttca ggataaagaa
     5641 tattccattg aagagataga ggctggcagg atcccaaacc cacacctggg cccagtggag
     5701 gagcgtctgg ctctgcatgt gcttcagcag cagggcctgg tcccggagca cgtggagtca
     5761 cggcccctct acagccccct gcagccagac atcgagcagg ggaagctgca gatgtgggtc
     5821 gacctatttc cgaaggccct ggggcggcct ggacctccct tcaacatcac cccacggaga
     5881 gccagaaggt ttttcctgcg ttgtattatc tggaatacca gagatgtgat cctggatgac
     5941 ctgagcctca cgggggagaa gatgagcgac atttatgtga aaggttggat gattggcttt
     6001 gaagaacaca agcaaaagac agacgtgcat tatcgttccc tgggaggtga aggcaacttc
     6061 aactggaggt tcattttccc cttcgactac ctgccagctg agcaagtctg taccattgcc
     6121 aagaaggatg ccttctggag gctggacaag actgagagca aaatcccagc acgagtggtg
     6181 ttccagatct gggacaatga caagttctcc tttgatgatt ttctgggctc cctgcagctc
     6241 gatctcaacc gcatgcccaa gccagccaag acagccaaga agtgctcctt ggaccagctg
     6301 gatgatgctt tccacccaga atggtttgtg tccctttttg agcagaaaac agtgaagggc
     6361 tggtggccct gtgtagcaga agagggtgag aagaaaatac tggcgggcaa gctggaaatg
     6421 accttggaga ttgtagcaga gagtgagcat gaggagcggc ctgctggcca gggccgggat
     6481 gagcccaaca tgaaccctaa gcttgaggac ccaaggcgcc ccgacacctc cttcctgtgg
     6541 tttacctccc catacaagac catgaagttc atcctgtggc ggcgtttccg gtgggccatc
     6601 atcctcttca tcatcctctt catcctgctg ctgttcctgg ccatcttcat ctacgccttc
     6661 ccgaactatg ctgccatgaa gctggtgaag cccttcagct gaggactctc ctgccctgta
     6721 gaaggggccg tggggtcccc tccagcatgg gactggcctg cctcctccgc ccagctcggc
     6781 gagctcctcc agacctccta ggcctgattg tcctgccagg gtgggcagac agacagatgg
     6841 accggcccac actcccagag ttgctaacat ggagctctga gatcacccca cttccatcat
     6901 ttccttctcc cccaacccaa cgcttttttg gatcagctca gacatatttc agtataaaac
     6961 agttggaacc aca
//
