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O75923

- DYSF_HUMAN

UniProt

O75923 - DYSF_HUMAN

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Protein

Dysferlin

Gene
DYSF, FER1L1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

Sites

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

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
Complete GO annotation...

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; 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.8 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 20462046Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei2047 – 206721Helical; Reviewed predictionAdd
BLAST
Topological domaini2068 – 208013Extracellular Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.12 Publications
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. 2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.16 Publications
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. 2 Publications
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.3 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 8585C2 1Add
BLAST
Domaini207 – 30296C2 2Add
BLAST
Domaini366 – 479114C2 3Add
BLAST
Domaini1139 – 1244106C2 4Add
BLAST
Domaini1336 – 142388C2 5Add
BLAST
Domaini1565 – 166399C2 6Add
BLAST
Domaini1813 – 1926114C2 7Add
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 (1 Publication, 1 Publication).2 Publications

Sequence similaritiesi

Belongs to the ferlin family.
Contains 7 C2 domains.

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

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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

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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

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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

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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

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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

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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.

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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.

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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. 2 Publications
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.
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
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 varianti1967 – 19671G → S.1 Publication
VAR_057879
Natural varianti1970 – 19701P → S in LGMD2B. 1 Publication
VAR_057880
Natural varianti2000 – 20001R → Q in MMD1. 1 Publication