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O75923

- DYSF_HUMAN

UniProt

O75923 - DYSF_HUMAN

Protein

Dysferlin

Gene

DYSF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    Functioni

    Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi18 – 181Calcium1 Publication
    Metal bindingi19 – 191Calcium; via carbonyl oxygen1 Publication
    Metal bindingi21 – 211Calcium1 Publication
    Metal bindingi40 – 401Calcium1 Publication

    GO - Molecular functioni

    1. calcium-dependent phospholipid binding Source: UniProtKB
    2. calcium ion binding Source: UniProtKB
    3. phospholipid binding Source: UniProtKB
    4. protein binding Source: IntAct

    GO - Biological processi

    1. plasma membrane repair Source: Ensembl
    2. vesicle fusion Source: Ensembl

    Keywords - Ligandi

    Calcium, Lipid-binding, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dysferlin
    Alternative name(s):
    Dystrophy-associated fer-1-like protein
    Fer-1-like protein 1
    Gene namesi
    Name:DYSF
    Synonyms:FER1L1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:3097. DYSF.

    Subcellular locationi

    Cell membranesarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane By similarity; Single-pass type II membrane protein By similarity. Cell membrane
    Note: Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca2+-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane By similarity. Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules By similarity. Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites By similarity.By similarity

    GO - Cellular componenti

    1. cytoplasmic vesicle membrane Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: UniProtKB-KW
    4. lamellipodium Source: Ensembl
    5. plasma membrane Source: UniProtKB
    6. sarcolemma Source: UniProt
    7. T-tubule Source: UniProt

    Keywords - Cellular componenti

    Cell membrane, Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601]: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.12 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521W → R in LGMD2B. 1 Publication
    VAR_057834
    Natural varianti67 – 671V → D in MMD1 and LGMD2B; Reduces calcium-sensitive phospholipid binding and interaction with AHNAK and AHNAK2. 1 Publication
    VAR_057835
    Natural varianti155 – 1551G → R in LGMD2B. 1 Publication
    VAR_057837
    Natural varianti170 – 1701A → E in MMD1, LGMD2B and isolated hyperCKemia. 3 Publications
    Corresponds to variant rs34999029 [ dbSNP | Ensembl ].
    VAR_024853
    Natural varianti234 – 2341G → E in LGMD2B. 1 Publication
    VAR_057838
    Natural varianti284 – 2841I → T in LGMD2B. 1 Publication
    VAR_057839
    Natural varianti299 – 2991G → R in LGMD2B and proximodistal myopathy. 3 Publications
    VAR_057840
    Natural varianti555 – 5551R → W in isolated hyperCKemia, LGMD2B and MMD1. 2 Publications
    VAR_024859
    Natural varianti618 – 6181G → R in MMD1 and LGMD2B. 2 Publications
    VAR_057851
    Natural varianti621 – 6211G → R in LGMD2B. 1 Publication
    VAR_057852
    Natural varianti625 – 6251D → Y in LGMD2B. 1 Publication
    VAR_057853
    Natural varianti731 – 7311P → R in LGMD2B. 1 Publication
    VAR_057854
    Natural varianti791 – 7911P → R in MMD1 and LGMD2B. 2 Publications
    VAR_012308
    Natural varianti930 – 9301W → C in LGMD2B; unknown pathological significance. 2 Publications
    VAR_057856
    Natural varianti959 – 9591R → W in MMD1 and LGMD2B. 2 Publications
    VAR_024860
    Natural varianti1022 – 10221R → Q in LGMD2B; unknown pathological significance. 3 Publications
    Corresponds to variant rs34211915 [ dbSNP | Ensembl ].
    VAR_024861
    Natural varianti1038 – 10381R → Q in LGMD2B; unknown pathological significance. 3 Publications
    VAR_024862
    Natural varianti1208 – 12081I → M in LGMD2B. 1 Publication
    Corresponds to variant rs148858485 [ dbSNP | Ensembl ].
    VAR_024865
    Natural varianti1228 – 12281L → P in LGMD2B. 1 Publication
    VAR_057860
    Natural varianti1298 – 12981I → V in MMD1 and LGMD2B. 1 Publication
    Corresponds to variant rs121908954 [ dbSNP | Ensembl ].
    VAR_012309
    Natural varianti1335 – 13351E → K in MMD1 and LGMD2B. 3 Publications
    VAR_024868
    Natural varianti1341 – 13411L → P in LGMD2B. 1 Publication
    VAR_057862
    Natural varianti1505 – 15051Y → C in LGMD2B. 1 Publication
    VAR_057864
    Natural varianti1526 – 15261K → T in LGMD2B. 1 Publication
    Corresponds to variant rs76086153 [ dbSNP | Ensembl ].
    VAR_057865
    Natural varianti1543 – 15431G → D in LGMD2B. 1 Publication
    VAR_057866
    Natural varianti1734 – 17341E → G in LGMD2B. 1 Publication
    VAR_057872
    Natural varianti1768 – 17681R → W in LGMD2B and proximodistal myopathy; unknown pathological significance. 2 Publications
    VAR_057873
    Natural varianti1970 – 19701P → S in LGMD2B. 1 Publication
    VAR_057880
    Natural varianti2042 – 20421R → C in MMD1, LGMD2B and proximodistal myopathy. 4 Publications
    VAR_012311
    Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood.15 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 671V → D in MMD1 and LGMD2B; Reduces calcium-sensitive phospholipid binding and interaction with AHNAK and AHNAK2. 1 Publication
    VAR_057835
    Natural varianti170 – 1701A → E in MMD1, LGMD2B and isolated hyperCKemia. 3 Publications
    Corresponds to variant rs34999029 [ dbSNP | Ensembl ].
    VAR_024853
    Natural varianti299 – 2991G → E in MMD1. 2 Publications
    VAR_024857
    Natural varianti299 – 2991G → W in MMD1. 1 Publication
    VAR_057841
    Natural varianti374 – 3741V → L in MMD1; unknown pathological significance. 2 Publications
    Corresponds to variant rs150724610 [ dbSNP | Ensembl ].
    VAR_057844
    Natural varianti386 – 3905FRAED → Y in MMD1.
    VAR_057845
    Natural varianti389 – 3891E → Q in MMD1. 1 Publication
    VAR_057846
    Natural varianti426 – 4261G → R in MMD1. 1 Publication
    VAR_057848
    Natural varianti426 – 4261G → V in MMD1. 1 Publication
    VAR_057849
    Natural varianti456 – 4561C → W in MMD1. 2 Publications
    VAR_024858
    Natural varianti519 – 5191G → R in MMD1. 1 Publication
    VAR_057850
    Natural varianti555 – 5551R → W in isolated hyperCKemia, LGMD2B and MMD1. 2 Publications
    VAR_024859
    Natural varianti618 – 6181G → R in MMD1 and LGMD2B. 2 Publications
    VAR_057851
    Natural varianti791 – 7911P → R in MMD1 and LGMD2B. 2 Publications
    VAR_012308
    Natural varianti959 – 9591R → W in MMD1 and LGMD2B. 2 Publications
    VAR_024860
    Natural varianti999 – 9991W → C in MMD1. 2 Publications
    Corresponds to variant rs28937581 [ dbSNP | Ensembl ].
    VAR_057857
    Natural varianti1029 – 10291P → L in MMD1. 1 Publication
    VAR_057858
    Natural varianti1041 – 10411R → C in MMD1. 1 Publication
    VAR_057859
    Natural varianti1046 – 10461R → H in MMD1; dbNP:28939700. 3 Publications
    Corresponds to variant rs28939700 [ dbSNP | Ensembl ].
    VAR_024863
    Natural varianti1298 – 12981I → V in MMD1 and LGMD2B. 1 Publication
    Corresponds to variant rs121908954 [ dbSNP | Ensembl ].
    VAR_012309
    Natural varianti1335 – 13351E → K in MMD1 and LGMD2B. 3 Publications
    VAR_024868
    Natural varianti1361 – 13611C → R in MMD1. 1 Publication
    VAR_057863
    Natural varianti1662 – 16621T → R in MMD1. 1 Publication
    VAR_057868
    Natural varianti1679 – 16791G → E in MMD1. 1 Publication
    VAR_057870
    Natural varianti1693 – 16931R → Q in MMD1. 2 Publications
    VAR_024870
    Natural varianti1693 – 16931R → W in MMD1. 1 Publication
    VAR_057871
    Natural varianti1837 – 18371D → N in MMD1. 2 Publications
    VAR_057874
    Natural varianti1842 – 18421G → D in MMD1. 1 Publication
    VAR_057875
    Natural varianti1857 – 18571H → R in MMD1. 1 Publication
    VAR_012310
    Natural varianti1922 – 19221L → P in MMD1. 1 Publication
    VAR_057876
    Natural varianti1938 – 19392Missing in MMD1.
    VAR_057877
    Natural varianti1942 – 19421C → G in MMD1. 1 Publication
    VAR_057878
    Natural varianti2000 – 20001R → Q in MMD1. 1 Publication
    Corresponds to variant rs115407852 [ dbSNP | Ensembl ].
    VAR_024872
    Natural varianti2042 – 20421R → C in MMD1, LGMD2B and proximodistal myopathy. 4 Publications
    VAR_012311
    Natural varianti2068 – 20681P → L in MMD1. 1 Publication
    VAR_057881
    Distal myopathy with anterior tibial onset (DMAT) [MIM:606768]: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi16 – 161D → A: Fails to bind calcium. 1 Publication
    Mutagenesisi21 – 211D → A: Fails to bind calcium. 1 Publication
    Mutagenesisi71 – 711D → A: Fails to bind calcium. 1 Publication
    Mutagenesisi79 – 791R → D: Moderately increased calcium affinity. 1 Publication
    Mutagenesisi80 – 801F → A: Reduced calcium affinity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Limb-girdle muscular dystrophy

    Organism-specific databases

    MIMi253601. phenotype.
    254130. phenotype.
    606768. phenotype.
    Orphaneti268. Autosomal recessive limb-girdle muscular dystrophy type 2B.
    199329. Congenital myopathy, Paradas type.
    178400. Distal myopathy with anterior tibial onset.
    45448. Miyoshi myopathy.
    PharmGKBiPA27554.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 20802080DysferlinPRO_0000057879Add
    BLAST

    Proteomic databases

    MaxQBiO75923.
    PaxDbiO75923.
    PRIDEiO75923.

    PTM databases

    PhosphoSiteiO75923.

    Expressioni

    Tissue specificityi

    Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas.9 Publications

    Developmental stagei

    Expression in limb tissue from 5-6 weeks embryos; persists throughout development.1 Publication

    Gene expression databases

    ArrayExpressiO75923.
    BgeeiO75923.
    GenevestigatoriO75923.

    Organism-specific databases

    HPAiCAB002510.
    HPA017071.
    HPA021945.

    Interactioni

    Subunit structurei

    Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca2+- and injury state-dependent. Interacts with ANXA2; the interaction is Ca2+- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation By similarity. Interacts with CAV3 and PARVB. Interacts with AHNAK; the interaction is direct and Ca2+-independent. Interacts with AHNAK2; the interaction is direct and Ca2+-independent.By similarity4 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACTN2P356092EBI-2799016,EBI-77797
    ALMS1Q8TCU43EBI-2799016,EBI-308651
    APPL1Q9UKG12EBI-2799016,EBI-741243
    CMYA5Q8N3K93EBI-2799016,EBI-2323272
    DESP176613EBI-2799016,EBI-1055572
    DGKDQ167603EBI-2799016,EBI-719333
    DNAJB6O751902EBI-2799016,EBI-1053164
    FLNCQ143153EBI-2799016,EBI-489954
    MYBPC1Q008724EBI-2799016,EBI-5652924
    MYOM1P521793EBI-2799016,EBI-5353249
    MYOM2P542963EBI-2799016,EBI-5357134
    NEBP209296EBI-2799016,EBI-1049657
    OPTNQ96CV93EBI-2799016,EBI-748974
    SAMHD1Q9Y3Z32EBI-2799016,EBI-1054601
    SGCGQ133263EBI-2799016,EBI-5357343
    SNAPINO952953EBI-2799016,EBI-296723
    TTNQ8WZ4217EBI-2799016,EBI-681210

    Protein-protein interaction databases

    BioGridi113896. 4 interactions.
    IntActiO75923. 44 interactions.

    Structurei

    Secondary structure

    2080
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi1 – 1111
    Beta strandi22 – 287
    Beta strandi31 – 344
    Beta strandi45 – 539
    Beta strandi64 – 718
    Beta strandi74 – 763
    Beta strandi79 – 879
    Helixi89 – 924
    Beta strandi98 – 1069
    Beta strandi112 – 12312
    Beta strandi946 – 95813
    Beta strandi966 – 9738
    Helixi983 – 9853
    Beta strandi996 – 9983
    Beta strandi1000 – 10023
    Beta strandi1011 – 10155
    Beta strandi1021 – 10233
    Beta strandi1028 – 10303
    Beta strandi1037 – 104913

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4CAHX-ray1.90B942-1052[»]
    4CAIX-ray2.20A/B/C942-1052[»]
    4IHBX-ray2.04A/B/C/D/E/F1-124[»]
    4IQHX-ray1.76A/B/C28-124[»]
    ProteinModelPortaliO75923.
    SMRiO75923. Positions 1-124, 873-935, 943-1051, 1063-1100, 1160-1269, 1574-1665.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 20462046CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2068 – 208013ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2047 – 206721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 8585C2 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini207 – 30296C2 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini366 – 479114C2 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini1139 – 1244106C2 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini1336 – 142388C2 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini1565 – 166399C2 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini1813 – 1926114C2 7PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1038 – 109760Arg-richAdd
    BLAST

    Domaini

    All seven C2 domains associate with lipid membranes in a calcium-dependent manner. Domains C2 1 and 3 have the highest affinity for calcium, the C2 domain 1 seems to be largely unstructured in the absence of bound ligands. The C2 domain 1 from isoform 14 does not bind calcium in the absence of bound phospholipid (PubMed:24239457, PubMed:24461013).2 Publications

    Sequence similaritiesi

    Belongs to the ferlin family.Curated
    Contains 7 C2 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG330124.
    HOVERGENiHBG018972.
    KOiK18261.
    OMAiQVHLALK.
    OrthoDBiEOG7CVPWR.
    PhylomeDBiO75923.
    TreeFamiTF316871.

    Family and domain databases

    Gene3Di2.60.40.150. 8 hits.
    InterProiIPR000008. C2_dom.
    IPR012968. FerIin-domain.
    IPR012560. Ferlin_A-domain.
    IPR012561. Ferlin_B-domain.
    IPR010482. Peroxin/Dysferlin.
    IPR006614. Peroxin/Ferlin.
    [Graphical view]
    PfamiPF00168. C2. 7 hits.
    PF08165. FerA. 1 hit.
    PF08150. FerB. 1 hit.
    PF08151. FerI. 1 hit.
    PF06398. Pex24p. 1 hit.
    [Graphical view]
    SMARTiSM00239. C2. 7 hits.
    SM00694. DysFC. 2 hits.
    SM00693. DysFN. 2 hits.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 8 hits.
    PROSITEiPS50004. C2. 5 hits.
    [Graphical view]

    Sequences (15)i

    Sequence statusi: Complete.

    This entry describes 15 isoformsi produced by alternative promoter usage and alternative splicing. Align

    Note: Approximately 23% of the transcripts in skeletal muscle incorporate exon 1a from an alternative promoter and missing the calcium-binding sites of domain C2 1.

    Isoform 1 (identifier: O75923-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF     50
    EWDLKGIPLD QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSAS 100
    FNAPLLDTKK QPTGASLVLQ VSYTPLPGAV PLFPPPTPLE PSPTLPDLDV 150
    VADTGGEEDT EDQGLTGDEA EPFLDQSGGP GAPTTPRKLP SRPPPHYPGI 200
    KRKRSAPTSR KLLSDKPQDF QIRVQVIEGR QLPGVNIKPV VKVTAAGQTK 250
    RTRIHKGNSP LFNETLFFNL FDSPGELFDE PIFITVVDSR SLRTDALLGE 300
    FRMDVGTIYR EPRHAYLRKW LLLSDPDDFS AGARGYLKTS LCVLGPGDEA 350
    PLERKDPSED KEDIESNLLR PTGVALRGAH FCLKVFRAED LPQMDDAVMD 400
    NVKQIFGFES NKKNLVDPFV EVSFAGKMLC SKILEKTANP QWNQNITLPA 450
    MFPSMCEKMR IRIIDWDRLT HNDIVATTYL SMSKISAPGG EIEEEPAGAV 500
    KPSKASDLDD YLGFLPTFGP CYINLYGSPR EFTGFPDPYT ELNTGKGEGV 550
    AYRGRLLLSL ETKLVEHSEQ KVEDLPADDI LRVEKYLRRR KYSLFAAFYS 600
    ATMLQDVDDA IQFEVSIGNY GNKFDMTCLP LASTTQYSRA VFDGCHYYYL 650
    PWGNVKPVVV LSSYWEDISH RIETQNQLLG IADRLEAGLE QVHLALKAQC 700
    STEDVDSLVA QLTDELIAGC SQPLGDIHET PSATHLDQYL YQLRTHHLSQ 750
    ITEAALALKL GHSELPAALE QAEDWLLRLR ALAEEPQNSL PDIVIWMLQG 800
    DKRVAYQRVP AHQVLFSRRG ANYCGKNCGK LQTIFLKYPM EKVPGARMPV 850
    QIRVKLWFGL SVDEKEFNQF AEGKLSVFAE TYENETKLAL VGNWGTTGLT 900
    YPKFSDVTGK IKLPKDSFRP SAGWTWAGDW FVCPEKTLLH DMDAGHLSFV 950
    EEVFENQTRL PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEEWS 1000
    TDLNRAVDEQ GWEYSITIPP ERKPKHWVPA EKMYYTHRRR RWVRLRRRDL 1050
    SQMEALKRHR QAEAEGEGWE YASLFGWKFH LEYRKTDAFR RRRWRRRMEP 1100
    LEKTGPAAVF ALEGALGGVM DDKSEDSMSV STLSFGVNRP TISCIFDYGN 1150
    RYHLRCYMYQ ARDLAAMDKD SFSDPYAIVS FLHQSQKTVV VKNTLNPTWD 1200
    QTLIFYEIEI FGEPATVAEQ PPSIVVELYD HDTYGADEFM GRCICQPSLE 1250
    RMPRLAWFPL TRGSQPSGEL LASFELIQRE KPAIHHIPGF EVQETSRILD 1300
    ESEDTDLPYP PPQREANIYM VPQNIKPALQ RTAIEILAWG LRNMKSYQLA 1350
    NISSPSLVVE CGGQTVQSCV IRNLRKNPNF DICTLFMEVM LPREELYCPP 1400
    ITVKVIDNRQ FGRRPVVGQC TIRSLESFLC DPYSAESPSP QGGPDDVSLL 1450
    SPGEDVLIDI DDKEPLIPIQ EEEFIDWWSK FFASIGEREK CGSYLEKDFD 1500
    TLKVYDTQLE NVEAFEGLSD FCNTFKLYRG KTQEETEDPS VIGEFKGLFK 1550
    IYPLPEDPAI PMPPRQFHQL AAQGPQECLV RIYIVRAFGL QPKDPNGKCD 1600
    PYIKISIGKK SVSDQDNYIP CTLEPVFGKM FELTCTLPLE KDLKITLYDY 1650
    DLLSKDEKIG ETVVDLENRL LSKFGARCGL PQTYCVSGPN QWRDQLRPSQ 1700
    LLHLFCQQHR VKAPVYRTDR VMFQDKEYSI EEIEAGRIPN PHLGPVEERL 1750
    ALHVLQQQGL VPEHVESRPL YSPLQPDIEQ GKLQMWVDLF PKALGRPGPP 1800
    FNITPRRARR FFLRCIIWNT RDVILDDLSL TGEKMSDIYV KGWMIGFEEH 1850
    KQKTDVHYRS LGGEGNFNWR FIFPFDYLPA EQVCTIAKKD AFWRLDKTES 1900
    KIPARVVFQI WDNDKFSFDD FLGSLQLDLN RMPKPAKTAK KCSLDQLDDA 1950
    FHPEWFVSLF EQKTVKGWWP CVAEEGEKKI LAGKLEMTLE IVAESEHEER 2000
    PAGQGRDEPN MNPKLEDPRR PDTSFLWFTS PYKTMKFILW RRFRWAIILF 2050
    IILFILLLFL AIFIYAFPNY AAMKLVKPFS 2080
    Length:2,080
    Mass (Da):237,295
    Last modified:November 1, 1998 - v1
    Checksum:i376E25A5AB9BE398
    GO
    Isoform 2 (identifier: O75923-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         152-152: A → AGGGQSRAETWSLLSDSTMDTRYSGKKWPAPT

    Show »
    Length:2,111
    Mass (Da):240,649
    Checksum:iAE2E2536294E3F8E
    GO
    Isoform 3 (identifier: O75923-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         494-508: EEPAGAVKPSKASDL → V

    Show »
    Length:2,066
    Mass (Da):235,913
    Checksum:iBB177D29C6673190
    GO
    Isoform 4 (identifier: O75923-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1470-1470: Q → QLADGLSSLAPTNTASPPSSPH

    Show »
    Length:2,101
    Mass (Da):239,297
    Checksum:i26EEDCF011956BE1
    GO
    Isoform 5 (identifier: O75923-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         152-152: A → AGGGQSRAETWSLLSDSTMDTRYSGKKWPAPT
         494-508: EEPAGAVKPSKASDL → V

    Show »
    Length:2,097
    Mass (Da):239,267
    Checksum:i5E5A7D7DC399343D
    GO
    Isoform 6 (identifier: O75923-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         494-508: EEPAGAVKPSKASDL → V
         1470-1470: Q → QLADGLSSLAPTNTASPPSSPH

    Show »
    Length:2,087
    Mass (Da):237,916
    Checksum:iE225F74E3A033173
    GO
    Isoform 7 (identifier: O75923-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         152-152: A → AGGGQSRAETWSLLSDSTMDTRYSGKKWPAPT
         494-508: EEPAGAVKPSKASDL → V
         1470-1470: Q → QLADGLSSLAPTNTASPPSSPH

    Show »
    Length:2,118
    Mass (Da):241,269
    Checksum:i8E253645F2D76F4A
    GO
    Isoform 8 (identifier: O75923-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MLRVFILYAENVHTPDTDISDAYCSAVFA → MLCCLLVRASNLPSAKKDRRSDPVASLTFR
         152-152: A → AGGGQSRAETWSLLSDSTMDTRYSGKKWPAPT

    Show »
    Length:2,112
    Mass (Da):240,735
    Checksum:i65D105E2EA06A54E
    GO
    Isoform 9 (identifier: O75923-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MLRVFILYAENVHTPDTDISDAYCSAVFA → MLCCLLVRASNLPSAKKDRRSDPVASLTFR
         494-508: EEPAGAVKPSKASDL → V

    Show »
    Length:2,067
    Mass (Da):236,000
    Checksum:i5BE7B5C3285A6CBD
    GO
    Isoform 10 (identifier: O75923-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MLRVFILYAENVHTPDTDISDAYCSAVFA → MLCCLLVRASNLPSAKKDRRSDPVASLTFR
         1470-1470: Q → QLADGLSSLAPTNTASPPSSPH

    Show »
    Length:2,102
    Mass (Da):239,383
    Checksum:iEBD1B370E34EF3E7
    GO
    Isoform 11 (identifier: O75923-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MLRVFILYAENVHTPDTDISDAYCSAVFA → MLCCLLVRASNLPSAKKDRRSDPVASLTFR
         152-152: A → AGGGQSRAETWSLLSDSTMDTRYSGKKWPAPT
         494-508: EEPAGAVKPSKASDL → V

    Show »
    Length:2,098
    Mass (Da):239,353
    Checksum:i3C81E57B591C23C2
    GO
    Isoform 12 (identifier: O75923-12) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MLRVFILYAENVHTPDTDISDAYCSAVFA → MLCCLLVRASNLPSAKKDRRSDPVASLTFR
         494-508: EEPAGAVKPSKASDL → V
         1470-1470: Q → QLADGLSSLAPTNTASPPSSPH

    Show »
    Length:2,088
    Mass (Da):238,002
    Checksum:iC068B3393FEBAEBA
    GO
    Isoform 13 (identifier: O75923-13) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MLRVFILYAENVHTPDTDISDAYCSAVFA → MLCCLLVRASNLPSAKKDRRSDPVASLTFR
         152-152: A → AGGGQSRAETWSLLSDSTMDTRYSGKKWPAPT
         494-508: EEPAGAVKPSKASDL → V
         1470-1470: Q → QLADGLSSLAPTNTASPPSSPH

    Show »
    Length:2,119
    Mass (Da):241,356
    Checksum:i1E839F33439A3B81
    GO
    Isoform 14 (identifier: O75923-14) [UniParc]FASTAAdd to Basket

    Also known as: Dysferlin_v1, DYSF_v1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MLRVFILYAENVHTPDTDISDAYCSAVFA → MLCCLLVRASNLPSAKKDRRSDPVASLTFR

    Note: Produced by alternative promoter usage.

    Show »
    Length:2,081
    Mass (Da):237,381
    Checksum:iCE55314169D4B801
    GO
    Isoform 15 (identifier: O75923-15) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         494-508: EEPAGAVKPSKASDL → V
         1934-1968: KPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGW → SSASSSRPPRPDCPARVGRQTDGPAHTPRVANMEL
         1969-2080: Missing.

    Show »
    Length:1,954
    Mass (Da):222,315
    Checksum:i99D137284A468A65
    GO

    Sequence cautioni

    The sequence CAA07603.1 differs from that shown. Reason: Frameshift at position 1972.
    The sequence BAG51981.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAA07603.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521W → R in LGMD2B. 1 Publication
    VAR_057834
    Natural varianti67 – 671V → D in MMD1 and LGMD2B; Reduces calcium-sensitive phospholipid binding and interaction with AHNAK and AHNAK2. 1 Publication
    VAR_057835
    Natural varianti84 – 841A → V.1 Publication
    VAR_057836
    Natural varianti155 – 1551G → R in LGMD2B. 1 Publication
    VAR_057837
    Natural varianti170 – 1701A → E in MMD1, LGMD2B and isolated hyperCKemia. 3 Publications
    Corresponds to variant rs34999029 [ dbSNP | Ensembl ].
    VAR_024853
    Natural varianti189 – 1891L → V.2 Publications
    Corresponds to variant rs13407355 [ dbSNP | Ensembl ].
    VAR_024854
    Natural varianti234 – 2341G → E in LGMD2B. 1 Publication
    VAR_057838
    Natural varianti253 – 2531R → W in isolated hyperCKemia. 2 Publications
    VAR_024855
    Natural varianti266 – 2661L → P in pseudometabolic myopathy. 2 Publications
    VAR_024856
    Natural varianti284 – 2841I → T in LGMD2B. 1 Publication
    VAR_057839
    Natural varianti299 – 2991G → E in MMD1. 2 Publications
    VAR_024857
    Natural varianti299 – 2991G → R in LGMD2B and proximodistal myopathy. 3 Publications
    VAR_057840
    Natural varianti299 – 2991G → W in MMD1. 1 Publication
    VAR_057841
    Natural varianti335 – 3351G → A.1 Publication
    VAR_057842
    Natural varianti340 – 3401S → R in proximodistal myopathy. 1 Publication
    VAR_057843
    Natural varianti374 – 3741V → L in MMD1; unknown pathological significance. 2 Publications
    Corresponds to variant rs150724610 [ dbSNP | Ensembl ].
    VAR_057844
    Natural varianti386 – 3905FRAED → Y in MMD1.
    VAR_057845
    Natural varianti389 – 3891E → Q in MMD1. 1 Publication
    VAR_057846
    Natural varianti390 – 3901D → N.1 Publication
    VAR_057847
    Natural varianti426 – 4261G → R in MMD1. 1 Publication
    VAR_057848
    Natural varianti426 – 4261G → V in MMD1. 1 Publication
    VAR_057849
    Natural varianti456 – 4561C → W in MMD1. 2 Publications
    VAR_024858
    Natural varianti519 – 5191G → R in MMD1. 1 Publication
    VAR_057850
    Natural varianti555 – 5551R → W in isolated hyperCKemia, LGMD2B and MMD1. 2 Publications
    VAR_024859
    Natural varianti618 – 6181G → R in MMD1 and LGMD2B. 2 Publications
    VAR_057851
    Natural varianti621 – 6211G → R in LGMD2B. 1 Publication
    VAR_057852
    Natural varianti625 – 6251D → Y in LGMD2B. 1 Publication
    VAR_057853
    Natural varianti731 – 7311P → R in LGMD2B. 1 Publication
    VAR_057854
    Natural varianti791 – 7911P → R in MMD1 and LGMD2B. 2 Publications
    VAR_012308
    Natural varianti819 – 8191R → Q.1 Publication
    VAR_057855
    Natural varianti834 – 8341I → V.
    Corresponds to variant rs34671418 [ dbSNP | Ensembl ].
    VAR_049055
    Natural varianti930 – 9301W → C in LGMD2B; unknown pathological significance. 2 Publications
    VAR_057856
    Natural varianti959 – 9591R → W in MMD1 and LGMD2B. 2 Publications
    VAR_024860
    Natural varianti999 – 9991W → C in MMD1. 2 Publications
    Corresponds to variant rs28937581 [ dbSNP | Ensembl ].
    VAR_057857
    Natural varianti1022 – 10221R → Q in LGMD2B; unknown pathological significance. 3 Publications
    Corresponds to variant rs34211915 [ dbSNP | Ensembl ].
    VAR_024861
    Natural varianti1029 – 10291P → L in MMD1. 1 Publication
    VAR_057858
    Natural varianti1038 – 10381R → Q in LGMD2B; unknown pathological significance. 3 Publications
    VAR_024862
    Natural varianti1041 – 10411R → C in MMD1. 1 Publication
    VAR_057859
    Natural varianti1046 – 10461R → H in MMD1; dbNP:28939700. 3 Publications
    Corresponds to variant rs28939700 [ dbSNP | Ensembl ].
    VAR_024863
    Natural varianti1065 – 10651E → EAE.1 Publication
    VAR_024864
    Natural varianti1072 – 10721A → P.
    Corresponds to variant rs34660230 [ dbSNP | Ensembl ].
    VAR_049056
    Natural varianti1096 – 10961R → H.
    Corresponds to variant rs59915619 [ dbSNP | Ensembl ].
    VAR_061170
    Natural varianti1208 – 12081I → M in LGMD2B. 1 Publication
    Corresponds to variant rs148858485 [ dbSNP | Ensembl ].
    VAR_024865
    Natural varianti1228 – 12281L → P in LGMD2B. 1 Publication
    VAR_057860
    Natural varianti1242 – 12421R → H.
    Corresponds to variant rs2303603 [ dbSNP | Ensembl ].
    VAR_020308
    Natural varianti1276 – 12761L → V in proximodistal myopathy. 2 Publications
    VAR_024866
    Natural varianti1298 – 12981I → V in MMD1 and LGMD2B. 1 Publication
    Corresponds to variant rs121908954 [ dbSNP | Ensembl ].
    VAR_012309
    Natural varianti1325 – 13251I → M in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035893
    Natural varianti1325 – 13251I → V.1 Publication
    Corresponds to variant rs145401010 [ dbSNP | Ensembl ].
    VAR_057861
    Natural varianti1331 – 13311R → L.2 Publications
    Corresponds to variant rs61742872 [ dbSNP | Ensembl ].
    VAR_024867
    Natural varianti1335 – 13351E → K in MMD1 and LGMD2B. 3 Publications
    VAR_024868
    Natural varianti1341 – 13411L → P in LGMD2B. 1 Publication
    VAR_057862
    Natural varianti1349 – 13491L → V in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035894
    Natural varianti1351 – 13511N → S.1 Publication
    VAR_024869
    Natural varianti1361 – 13611C → R in MMD1. 1 Publication
    VAR_057863
    Natural varianti1505 – 15051Y → C in LGMD2B. 1 Publication
    VAR_057864
    Natural varianti1526 – 15261K → T in LGMD2B. 1 Publication
    Corresponds to variant rs76086153 [ dbSNP | Ensembl ].
    VAR_057865
    Natural varianti1543 – 15431G → D in LGMD2B. 1 Publication
    VAR_057866
    Natural varianti1581 – 15811R → H.1 Publication
    Corresponds to variant rs185596534 [ dbSNP | Ensembl ].
    VAR_057867
    Natural varianti1662 – 16621T → R in MMD1. 1 Publication
    VAR_057868
    Natural varianti1678 – 16781C → S in isolated hyperCKemia. 1 Publication
    VAR_057869
    Natural varianti1679 – 16791G → E in MMD1. 1 Publication
    VAR_057870
    Natural varianti1693 – 16931R → Q in MMD1. 2 Publications
    VAR_024870
    Natural varianti1693 – 16931R → W in MMD1. 1 Publication
    VAR_057871
    Natural varianti1734 – 17341E → G in LGMD2B. 1 Publication
    VAR_057872
    Natural varianti1748 – 17481E → V in proximodistal myopathy. 2 Publications
    VAR_024871
    Natural varianti1768 – 17681R → W in LGMD2B and proximodistal myopathy; unknown pathological significance. 2 Publications
    VAR_057873
    Natural varianti1837 – 18371D → N in MMD1. 2 Publications