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UniProtKB - O75923 (DYSF_HUMAN)

Protein

Dysferlin

Gene

DYSF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi18Calcium1 Publication1
Metal bindingi19Calcium; via carbonyl oxygen1 Publication1
Metal bindingi21Calcium1 Publication1
Metal bindingi40Calcium1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • alpha-tubulin binding Source: Ensembl
  • calcium-dependent phospholipid binding Source: UniProtKB
  • calcium ion binding Source: UniProtKB
  • microtubule binding Source: Ensembl
  • phospholipid binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium, Lipid-binding, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-445355 Smooth Muscle Contraction

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75923

Protein family/group databases

Transport Classification Database

More...TCDBi		1.F.1.2.1 the synaptosomal vesicle fusion pore (svf-pore) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dysferlin
Alternative name(s):
Dystrophy-associated fer-1-like protein
Fer-1-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DYSF
Synonyms:FER1L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000135636.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:3097 DYSF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603009 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75923

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 2046CytoplasmicSequence analysisAdd BLAST2046
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei2047 – 2067HelicalSequence analysisAdd BLAST21
Topological domaini2068 – 2080ExtracellularSequence analysisAdd BLAST13

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:253601
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05783452W → R in LGMDR2. 1 Publication1
Natural variantiVAR_05783567V → D in MMD1 and LGMDR2; Reduces calcium-sensitive phospholipid binding and interaction with AHNAK and AHNAK2. 3 PublicationsCorresponds to variant dbSNP:rs121908957EnsemblClinVar.1
Natural variantiVAR_057837155G → R in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs200970855EnsemblClinVar.1
Natural variantiVAR_024853170A → E in MMD1 and LGMDR2; also found in patients with isolated hyperCKemia. 3 PublicationsCorresponds to variant dbSNP:rs34999029EnsemblClinVar.1
Natural variantiVAR_057838234G → E in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs141497053EnsemblClinVar.1
Natural variantiVAR_057839284I → T in LGMDR2. 1 Publication1
Natural variantiVAR_057840299G → R in LGMDR2 and proximodistal myopathy. 3 PublicationsCorresponds to variant dbSNP:rs121908963EnsemblClinVar.1
Natural variantiVAR_024859555R → W in LGMDR2 and MMD1; also found in patients with isolated hyperCKemia. 2 PublicationsCorresponds to variant dbSNP:rs377735262EnsemblClinVar.1
Natural variantiVAR_057851618G → R in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs201049092EnsemblClinVar.1
Natural variantiVAR_057852621G → R in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs886043900EnsemblClinVar.1
Natural variantiVAR_057853625D → Y in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs121908960EnsemblClinVar.1
Natural variantiVAR_057854731P → R in LGMDR2. 1 Publication1
Natural variantiVAR_012308791P → R in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs121908956EnsemblClinVar.1
Natural variantiVAR_057856930W → C in LGMDR2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727503910EnsemblClinVar.1
Natural variantiVAR_024860959R → W in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs202218890EnsemblClinVar.1
Natural variantiVAR_0248611022R → Q in LGMDR2; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs34211915EnsemblClinVar.1
Natural variantiVAR_0248621038R → Q in LGMDR2. 3 PublicationsCorresponds to variant dbSNP:rs150877497EnsemblClinVar.1
Natural variantiVAR_0248651208I → M in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs148858485EnsemblClinVar.1
Natural variantiVAR_0578601228L → P in LGMDR2. 1 Publication1
Natural variantiVAR_0123091298I → V in MMD1 and LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs121908954EnsemblClinVar.1
Natural variantiVAR_0248681335E → K in MMD1 and LGMDR2. 3 PublicationsCorresponds to variant dbSNP:rs758993965Ensembl.1
Natural variantiVAR_0578621341L → P in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs757917335EnsemblClinVar.1
Natural variantiVAR_0578641505Y → C in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs757820496EnsemblClinVar.1
Natural variantiVAR_0578651526K → T in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs76086153EnsemblClinVar.1
Natural variantiVAR_0578661543G → D in LGMDR2. 1 Publication1
Natural variantiVAR_0578721734E → G in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs121908961Ensembl.1
Natural variantiVAR_0578731768R → W in LGMDR2 and proximodistal myopathy; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs746243052EnsemblClinVar.1
Natural variantiVAR_0578801970P → S in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs1057521141Ensembl.1
Miyoshi muscular dystrophy 1 (MMD1)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood.
See also OMIM:254130
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05783567V → D in MMD1 and LGMDR2; Reduces calcium-sensitive phospholipid binding and interaction with AHNAK and AHNAK2. 3 PublicationsCorresponds to variant dbSNP:rs121908957EnsemblClinVar.1
Natural variantiVAR_024853170A → E in MMD1 and LGMDR2; also found in patients with isolated hyperCKemia. 3 PublicationsCorresponds to variant dbSNP:rs34999029EnsemblClinVar.1
Natural variantiVAR_024857299G → E in MMD1. 2 PublicationsCorresponds to variant dbSNP:rs1258728780Ensembl.1
Natural variantiVAR_057841299G → W in MMD1. 1 PublicationCorresponds to variant dbSNP:rs121908963EnsemblClinVar.1
Natural variantiVAR_057844374V → L in MMD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs150724610EnsemblClinVar.1
Natural variantiVAR_057845386 – 390FRAED → Y in MMD1. 1 Publication5
Natural variantiVAR_057846389E → Q in MMD1. 1 Publication1
Natural variantiVAR_057848426G → R in MMD1. 1 PublicationCorresponds to variant dbSNP:rs886042093Ensembl.1
Natural variantiVAR_057849426G → V in MMD1. 1 Publication1
Natural variantiVAR_024858456C → W in MMD1. 2 Publications1
Natural variantiVAR_057850519G → R in MMD1. 1 PublicationCorresponds to variant dbSNP:rs121908962EnsemblClinVar.1
Natural variantiVAR_024859555R → W in LGMDR2 and MMD1; also found in patients with isolated hyperCKemia. 2 PublicationsCorresponds to variant dbSNP:rs377735262EnsemblClinVar.1
Natural variantiVAR_057851618G → R in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs201049092EnsemblClinVar.1
Natural variantiVAR_012308791P → R in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs121908956EnsemblClinVar.1
Natural variantiVAR_024860959R → W in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs202218890EnsemblClinVar.1
Natural variantiVAR_057857999W → C in MMD1. 2 PublicationsCorresponds to variant dbSNP:rs28937581EnsemblClinVar.1
Natural variantiVAR_0578581029P → L in MMD1. 1 Publication1
Natural variantiVAR_0578591041R → C in MMD1. 1 PublicationCorresponds to variant dbSNP:rs144598063EnsemblClinVar.1
Natural variantiVAR_0248631046R → H in MMD1; dbNP:28939700. 3 PublicationsCorresponds to variant dbSNP:rs121908958EnsemblClinVar.1
Natural variantiVAR_0123091298I → V in MMD1 and LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs121908954EnsemblClinVar.1
Natural variantiVAR_0248681335E → K in MMD1 and LGMDR2. 3 PublicationsCorresponds to variant dbSNP:rs758993965Ensembl.1
Natural variantiVAR_0578631361C → R in MMD1. 1 PublicationCorresponds to variant dbSNP:rs776472879Ensembl.1
Natural variantiVAR_0578681662T → R in MMD1. 1 Publication1
Natural variantiVAR_0578701679G → E in MMD1. 1 Publication1
Natural variantiVAR_0248701693R → Q in MMD1. 2 PublicationsCorresponds to variant dbSNP:rs779987458EnsemblClinVar.1
Natural variantiVAR_0578711693R → W in MMD1. 1 PublicationCorresponds to variant dbSNP:rs863225021EnsemblClinVar.1
Natural variantiVAR_0578741837D → N in MMD1. 2 PublicationsCorresponds to variant dbSNP:rs398123794EnsemblClinVar.1
Natural variantiVAR_0578751842G → D in MMD1. 1 Publication1
Natural variantiVAR_0123101857H → R in MMD1. 1 PublicationCorresponds to variant dbSNP:rs199601326Ensembl.1
Natural variantiVAR_0578761922L → P in MMD1. 1 Publication1
Natural variantiVAR_0578771938 – 1939Missing in MMD1. 1 Publication2
Natural variantiVAR_0578781942C → G in MMD1. 1 Publication1
Natural variantiVAR_0248722000R → Q in MMD1. 1 PublicationCorresponds to variant dbSNP:rs115407852EnsemblClinVar.1
Natural variantiVAR_0123112042R → C in MMD1, LGMDR2 and proximodistal myopathy. 4 PublicationsCorresponds to variant dbSNP:rs121908955EnsemblClinVar.1
Natural variantiVAR_0578812068P → L in MMD1. 1 PublicationCorresponds to variant dbSNP:rs149732545EnsemblClinVar.1
Distal myopathy with anterior tibial onset (DMAT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionOnset 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.
See also OMIM:606768

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi16D → A: Fails to bind calcium. 1 Publication1
Mutagenesisi21D → A: Fails to bind calcium. 1 Publication1
Mutagenesisi71D → A: Fails to bind calcium. 1 Publication1
Mutagenesisi79R → D: Moderately increased calcium affinity. 1 Publication1
Mutagenesisi80F → A: Reduced calcium affinity. 1 Publication1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		8291

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DYSF

MalaCards human disease database

More...MalaCardsi		DYSF
MIMi253601 phenotype
254130 phenotype
606768 phenotype

Open Targets

More...OpenTargetsi		ENSG00000135636

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		268 Autosomal recessive limb-girdle muscular dystrophy type 2B
199329 Congenital myopathy, Paradas type
178400 Distal myopathy with anterior tibial onset
45448 Miyoshi myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27554

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DYSF

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000578791 – 2080DysferlinAdd BLAST2080

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei166PhosphothreonineCombined sources1
Isoform 2 (identifier: O75923-2)
Modified residuei166PhosphoserineCombined sources1
Modified residuei197PhosphothreonineCombined sources1
Isoform 5 (identifier: O75923-5)
Modified residuei166PhosphoserineCombined sources1
Modified residuei197PhosphothreonineCombined sources1
Isoform 7 (identifier: O75923-7)
Modified residuei166PhosphoserineCombined sources1
Modified residuei197PhosphothreonineCombined sources1
Isoform 8 (identifier: O75923-8)
Modified residuei167PhosphoserineCombined sources1
Modified residuei198PhosphothreonineCombined sources1
Isoform 11 (identifier: O75923-11)
Modified residuei167PhosphoserineCombined sources1
Modified residuei198PhosphothreonineCombined sources1
Isoform 13 (identifier: O75923-13)
Modified residuei167PhosphoserineCombined sources1
Modified residuei198PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75923

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75923

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75923

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O75923

PeptideAtlas

More...PeptideAtlasi		O75923

PRoteomics IDEntifications database

More...PRIDEi		O75923

ProteomicsDB human proteome resource

More...ProteomicsDBi		50278
50279 [O75923-10]
50280 [O75923-11]
50281 [O75923-12]
50282 [O75923-13]
50283 [O75923-14]
50284 [O75923-15]
50285 [O75923-2]
50286 [O75923-3]
50287 [O75923-4]
50288 [O75923-5]
50289 [O75923-6]
50290 [O75923-7]
50291 [O75923-8]
50292 [O75923-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75923

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O75923

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135636 Expressed in 219 organ(s), highest expression level in blood

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75923 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB002510
HPA017071
HPA021945

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 RIPOR2; this interaction occurs during early myogenic differentiation (PubMed:24687993). 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 similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		113896, 10 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O75923

Protein interaction database and analysis system

More...IntActi		O75923, 51 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000386881

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12080
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB 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/C30-124[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O75923

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O75923

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 85C2 1PROSITE-ProRule annotationAdd BLAST85
Domaini207 – 302C2 2PROSITE-ProRule annotationAdd BLAST96
Domaini366 – 479C2 3PROSITE-ProRule annotationAdd BLAST114
Domaini1139 – 1244C2 4PROSITE-ProRule annotationAdd BLAST106
Domaini1336 – 1423C2 5PROSITE-ProRule annotationAdd BLAST88
Domaini1565 – 1663C2 6PROSITE-ProRule annotationAdd BLAST99
Domaini1813 – 1926C2 7PROSITE-ProRule annotationAdd BLAST114

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1038 – 1097Arg-richAdd BLAST60

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ferlin family.Curated

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1326 Eukaryota
ENOG410XPT2 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156187

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG018972

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75923

KEGG Orthology (KO)

More...KOi		K18261

Identification of Orthologs from Complete Genome Data

More...OMAi		HRVEAQN

Database of Orthologous Groups

More...OrthoDBi		20162at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75923

TreeFam database of animal gene trees

More...TreeFami		TF316871

Family and domain databases

Conserved Domains Database

More...CDDi		cd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.150, 6 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR029998 Dysferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR006614 Peroxin/Ferlin

The PANTHER Classification System

More...PANTHERi		PTHR12546 PTHR12546, 1 hit
PTHR12546:SF44 PTHR12546:SF44, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00168 C2, 7 hits
PF08165 FerA, 1 hit
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00239 C2, 7 hits
SM00694 DysFC, 2 hits
SM00693 DysFN, 2 hits
SM01200 FerA, 1 hit
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50004 C2, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (15)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 15 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket
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
        10         20         30         40         50
MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF 
        60         70         80         90        100
EWDLKGIPLD QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSAS 
       110        120        130        140        150
FNAPLLDTKK QPTGASLVLQ VSYTPLPGAV PLFPPPTPLE PSPTLPDLDV 
       160        170        180        190        200
VADTGGEEDT EDQGLTGDEA EPFLDQSGGP GAPTTPRKLP SRPPPHYPGI 
       210        220        230        240        250
KRKRSAPTSR KLLSDKPQDF QIRVQVIEGR QLPGVNIKPV VKVTAAGQTK 
       260        270        280        290        300
RTRIHKGNSP LFNETLFFNL FDSPGELFDE PIFITVVDSR SLRTDALLGE 
       310        320        330        340        350
FRMDVGTIYR EPRHAYLRKW LLLSDPDDFS AGARGYLKTS LCVLGPGDEA 
       360        370        380        390        400
PLERKDPSED KEDIESNLLR PTGVALRGAH FCLKVFRAED LPQMDDAVMD 
       410        420        430        440        450
NVKQIFGFES NKKNLVDPFV EVSFAGKMLC SKILEKTANP QWNQNITLPA 
       460        470        480        490        500
MFPSMCEKMR IRIIDWDRLT HNDIVATTYL SMSKISAPGG EIEEEPAGAV 
       510        520        530        540        550
KPSKASDLDD YLGFLPTFGP CYINLYGSPR EFTGFPDPYT ELNTGKGEGV 
       560        570        580        590        600
AYRGRLLLSL ETKLVEHSEQ KVEDLPADDI LRVEKYLRRR KYSLFAAFYS 
       610        620        630        640        650
ATMLQDVDDA IQFEVSIGNY GNKFDMTCLP LASTTQYSRA VFDGCHYYYL 
       660        670        680        690        700
PWGNVKPVVV LSSYWEDISH RIETQNQLLG IADRLEAGLE QVHLALKAQC 
       710        720        730        740        750
STEDVDSLVA QLTDELIAGC SQPLGDIHET PSATHLDQYL YQLRTHHLSQ 
       760        770        780        790        800
ITEAALALKL GHSELPAALE QAEDWLLRLR ALAEEPQNSL PDIVIWMLQG 
       810        820        830        840        850
DKRVAYQRVP AHQVLFSRRG ANYCGKNCGK LQTIFLKYPM EKVPGARMPV 
       860        870        880        890        900
QIRVKLWFGL SVDEKEFNQF AEGKLSVFAE TYENETKLAL VGNWGTTGLT 
       910        920        930        940        950
YPKFSDVTGK IKLPKDSFRP SAGWTWAGDW FVCPEKTLLH DMDAGHLSFV 
       960        970        980        990       1000
EEVFENQTRL PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEEWS 
      1010       1020       1030       1040       1050
TDLNRAVDEQ GWEYSITIPP ERKPKHWVPA EKMYYTHRRR RWVRLRRRDL 
      1060       1070       1080       1090       1100
SQMEALKRHR QAEAEGEGWE YASLFGWKFH LEYRKTDAFR RRRWRRRMEP 
      1110       1120       1130       1140       1150
LEKTGPAAVF ALEGALGGVM DDKSEDSMSV STLSFGVNRP TISCIFDYGN 
      1160       1170       1180       1190       1200
RYHLRCYMYQ ARDLAAMDKD SFSDPYAIVS FLHQSQKTVV VKNTLNPTWD 
      1210       1220       1230       1240       1250
QTLIFYEIEI FGEPATVAEQ PPSIVVELYD HDTYGADEFM GRCICQPSLE 
      1260       1270       1280       1290       1300
RMPRLAWFPL TRGSQPSGEL LASFELIQRE KPAIHHIPGF EVQETSRILD 
      1310       1320       1330       1340       1350
ESEDTDLPYP PPQREANIYM VPQNIKPALQ RTAIEILAWG LRNMKSYQLA 
      1360       1370       1380       1390       1400
NISSPSLVVE CGGQTVQSCV IRNLRKNPNF DICTLFMEVM LPREELYCPP 
      1410       1420       1430       1440       1450
ITVKVIDNRQ FGRRPVVGQC TIRSLESFLC DPYSAESPSP QGGPDDVSLL 
      1460       1470       1480       1490       1500
SPGEDVLIDI DDKEPLIPIQ EEEFIDWWSK FFASIGEREK CGSYLEKDFD 
      1510       1520       1530       1540       1550
TLKVYDTQLE NVEAFEGLSD FCNTFKLYRG KTQEETEDPS VIGEFKGLFK 
      1560       1570       1580       1590       1600
IYPLPEDPAI PMPPRQFHQL AAQGPQECLV RIYIVRAFGL QPKDPNGKCD 
      1610       1620       1630       1640       1650
PYIKISIGKK SVSDQDNYIP CTLEPVFGKM FELTCTLPLE KDLKITLYDY 
      1660       1670       1680       1690       1700
DLLSKDEKIG ETVVDLENRL LSKFGARCGL PQTYCVSGPN QWRDQLRPSQ 
      1710       1720       1730       1740       1750
LLHLFCQQHR VKAPVYRTDR VMFQDKEYSI EEIEAGRIPN PHLGPVEERL 
      1760       1770       1780       1790       1800
ALHVLQQQGL VPEHVESRPL YSPLQPDIEQ GKLQMWVDLF PKALGRPGPP 
      1810       1820       1830       1840       1850
FNITPRRARR FFLRCIIWNT RDVILDDLSL TGEKMSDIYV KGWMIGFEEH 
      1860       1870       1880       1890       1900
KQKTDVHYRS LGGEGNFNWR FIFPFDYLPA EQVCTIAKKD AFWRLDKTES 
      1910       1920       1930       1940       1950
KIPARVVFQI WDNDKFSFDD FLGSLQLDLN RMPKPAKTAK KCSLDQLDDA 
      1960       1970       1980       1990       2000
FHPEWFVSLF EQKTVKGWWP CVAEEGEKKI LAGKLEMTLE IVAESEHEER 
      2010       2020       2030       2040       2050
PAGQGRDEPN MNPKLEDPRR PDTSFLWFTS PYKTMKFILW RRFRWAIILF 
      2060       2070       2080
IILFILLLFL AIFIYAFPNY AAMKLVKPFS
Length:2,080
Mass (Da):237,295
Last modified:November 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05783452W → R in LGMDR2. 1 Publication1
Natural variantiVAR_05783567V → D in MMD1 and LGMDR2; Reduces calcium-sensitive phospholipid binding and interaction with AHNAK and AHNAK2. 3 PublicationsCorresponds to variant dbSNP:rs121908957EnsemblClinVar.1
Natural variantiVAR_05783684A → V1 PublicationCorresponds to variant dbSNP:rs772008300EnsemblClinVar.1
Natural variantiVAR_057837155G → R in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs200970855EnsemblClinVar.1
Natural variantiVAR_024853170A → E in MMD1 and LGMDR2; also found in patients with isolated hyperCKemia. 3 PublicationsCorresponds to variant dbSNP:rs34999029EnsemblClinVar.1
Natural variantiVAR_024854189L → V2 PublicationsCorresponds to variant dbSNP:rs13407355EnsemblClinVar.1
Natural variantiVAR_057838234G → E in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs141497053EnsemblClinVar.1
Natural variantiVAR_024855253R → W Found in patients with isolated hyperCKemia. 2 PublicationsCorresponds to variant dbSNP:rs149827237Ensembl.1
Natural variantiVAR_024856266L → P in pseudometabolic myopathy. 2 Publications1
Natural variantiVAR_057839284I → T in LGMDR2. 1 Publication1
Natural variantiVAR_024857299G → E in MMD1. 2 PublicationsCorresponds to variant dbSNP:rs1258728780Ensembl.1
Natural variantiVAR_057840299G → R in LGMDR2 and proximodistal myopathy. 3 PublicationsCorresponds to variant dbSNP:rs121908963EnsemblClinVar.1
Natural variantiVAR_057841299G → W in MMD1. 1 PublicationCorresponds to variant dbSNP:rs121908963EnsemblClinVar.1
Natural variantiVAR_057842335G → A1 Publication1
Natural variantiVAR_057843340S → R in proximodistal myopathy. 1 PublicationCorresponds to variant dbSNP:rs766891289EnsemblClinVar.1
Natural variantiVAR_057844374V → L in MMD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs150724610EnsemblClinVar.1
Natural variantiVAR_057845386 – 390FRAED → Y in MMD1. 1 Publication5
Natural variantiVAR_057846389E → Q in MMD1. 1 Publication1
Natural variantiVAR_057847390D → N1 PublicationCorresponds to variant dbSNP:rs886042389EnsemblClinVar.1
Natural variantiVAR_057848426G → R in MMD1. 1 PublicationCorresponds to variant dbSNP:rs886042093Ensembl.1
Natural variantiVAR_057849426G → V in MMD1. 1 Publication1
Natural variantiVAR_024858456C → W in MMD1. 2 Publications1
Natural variantiVAR_057850519G → R in MMD1. 1 PublicationCorresponds to variant dbSNP:rs121908962EnsemblClinVar.1
Natural variantiVAR_024859555R → W in LGMDR2 and MMD1; also found in patients with isolated hyperCKemia. 2 PublicationsCorresponds to variant dbSNP:rs377735262EnsemblClinVar.1
Natural variantiVAR_057851618G → R in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs201049092EnsemblClinVar.1
Natural variantiVAR_057852621G → R in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs886043900EnsemblClinVar.1
Natural variantiVAR_057853625D → Y in LGMDR2. 1 PublicationCorresponds to variant dbSNP:rs121908960EnsemblClinVar.1
Natural variantiVAR_057854731P → R in LGMDR2. 1 Publication1
Natural variantiVAR_012308791P → R in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs121908956EnsemblClinVar.1
Natural variantiVAR_057855819R → Q1 PublicationCorresponds to variant dbSNP:rs748636047Ensembl.1
Natural variantiVAR_049055834I → V. Corresponds to variant dbSNP:rs34671418EnsemblClinVar.1
Natural variantiVAR_057856930W → C in LGMDR2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727503910EnsemblClinVar.1
Natural variantiVAR_024860959R → W in MMD1 and LGMDR2. 2 PublicationsCorresponds to variant dbSNP:rs202218890EnsemblClinVar.1
Natural variantiVAR_057857999W → C in MMD1. 2 PublicationsCorresponds to variant dbSNP:rs28937581EnsemblClinVar.1
Natural variantiVAR_0248611022R → Q in LGMDR2; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs34211915EnsemblClinVar.1
Natural variantiVAR_0578581029P → L in MMD1. 1 Publication1
Natural variantiVAR_0248621038R → Q in LGMDR2. 3 PublicationsCorresponds to variant dbSNP:rs150877497EnsemblClinVar.1
Natural variantiVAR_0578591041R → C in MMD1. 1 PublicationCorresponds to variant dbSNP:rs144598063EnsemblClinVar.1
Natural variantiVAR_0248631046R → H in MMD1; dbNP:28939700. 3 Publications