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Protein

Myosin-binding protein C, cardiac-type

Gene

MYBPC3

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

Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

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 bindingi208Zinc1 Publication1
Metal bindingi210Zinc1 Publication1
Metal bindingi223Zinc1 Publication1
Metal bindingi225Zinc1 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

  • actin filament binding Source: GO_Central
  • ATPase activator activity Source: BHF-UCL
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • muscle alpha-actinin binding Source: GO_Central
  • myosin binding Source: BHF-UCL
  • myosin heavy chain binding Source: BHF-UCL
  • structural constituent of muscle Source: BHF-UCL
  • titin binding Source: BHF-UCL

GO - Biological processi

<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

Molecular functionActin-binding, Muscle protein
Biological processCell adhesion
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-390522 Striated Muscle Contraction

SIGNOR Signaling Network Open Resource

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SIGNORi
Q14896

<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:
Myosin-binding protein C, cardiac-type
Short name:
Cardiac MyBP-C
Alternative name(s):
C-protein, cardiac muscle isoform
<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:MYBPC3
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000134571.10

Human Gene Nomenclature Database

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HGNCi
HGNC:7551 MYBPC3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600958 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q14896

<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

Keywords - Cellular componenti

Thick filament

<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

Cardiomyopathy, familial hypertrophic 4 (CMH4)25 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
See also OMIM:115197
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_0293905G → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs201278114EnsemblClinVar.1
Natural variantiVAR_02939159T → A in CMH4. 1 PublicationCorresponds to variant dbSNP:rs121909375EnsemblClinVar.1
Natural variantiVAR_029392161P → S in CMH4. 1 Publication1
Natural variantiVAR_029393219V → L in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516068EnsemblClinVar.1
Natural variantiVAR_029394228D → N in CMH4. 1 PublicationCorresponds to variant dbSNP:rs369300885EnsemblClinVar.1
Natural variantiVAR_029395237Y → S in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516070EnsemblClinVar.1
Natural variantiVAR_029396256V → I in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1444087775Ensembl.1
Natural variantiVAR_019889257H → P in CMH4. 1 Publication1
Natural variantiVAR_019890258E → K in CMH4. 8 PublicationsCorresponds to variant dbSNP:rs397516074EnsemblClinVar.1
Natural variantiVAR_042740263G → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs373730381EnsemblClinVar.1
Natural variantiVAR_070449272R → C in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516075EnsemblClinVar.1
Natural variantiVAR_042741273R → H in CMH4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376461745EnsemblClinVar.1
Natural variantiVAR_019891278G → E in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs147315081EnsemblClinVar.1
Natural variantiVAR_019892279G → A in CMH4. 1 PublicationCorresponds to variant dbSNP:rs375774648EnsemblClinVar.1
Natural variantiVAR_029397282R → W in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs727504234EnsemblClinVar.1
Natural variantiVAR_074539334E → K in CMH4; also found in a patient with RCM; decreases protein abundance; increases polyubiquitination level; accelerates the degradation process; no effect on phosphorylation; decreases endopeptidase activity; increases apoptotic process. 2 PublicationsCorresponds to variant dbSNP:rs573916965EnsemblClinVar.1
Natural variantiVAR_070450336I → V in CMH4. 1 Publication1
Natural variantiVAR_074540342V → D in CMH4. 1 PublicationCorresponds to variant dbSNP:rs730880709Ensembl.1
Natural variantiVAR_019894352L → P in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1460895809Ensembl.1
Natural variantiVAR_042742417A → S in CMH4. 1 Publication1
Natural variantiVAR_027879451E → Q in CMH4. 1 Publication1
Natural variantiVAR_029399458R → H in CMH4. 1 PublicationCorresponds to variant dbSNP:rs374255707EnsemblClinVar.1
Natural variantiVAR_029400490G → R in CMH4, CMD1MM and LVNC10. 4 PublicationsCorresponds to variant dbSNP:rs200625851EnsemblClinVar.1
Natural variantiVAR_070451490G → V in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397514752EnsemblClinVar.1
Natural variantiVAR_045929495R → G in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397515905EnsemblClinVar.1
Natural variantiVAR_027880495R → Q in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs200411226EnsemblClinVar.1
Natural variantiVAR_027881502R → Q in CMH4. 3 PublicationsCorresponds to variant dbSNP:rs397515907EnsemblClinVar.1
Natural variantiVAR_019895502R → W in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs375882485EnsemblClinVar.1
Natural variantiVAR_019896504Missing in CMH4. 1 Publication1
Natural variantiVAR_029401507G → R in CMH4. 3 PublicationsCorresponds to variant dbSNP:rs35736435EnsemblClinVar.1
Natural variantiVAR_029402523G → W in CMH4. 1 Publication1
Natural variantiVAR_003917542E → Q in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs121909374EnsemblClinVar.1
Natural variantiVAR_079521562A → V in CMH4. 1 PublicationCorresponds to variant dbSNP:rs730880694Ensembl.1
Natural variantiVAR_029404566C → R in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs730880695EnsemblClinVar.1
Natural variantiVAR_029405604D → V in CMH4. 1 Publication1
Natural variantiVAR_029406605D → N in CMH4; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs376736293EnsemblClinVar.1
Natural variantiVAR_029407608P → L in CMH4. 1 Publication1
Natural variantiVAR_074541627A → V in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1352376969Ensembl.1
Natural variantiVAR_003918654R → H in CMH4; as well folded and stable as the wild-type. 2 PublicationsCorresponds to variant dbSNP:rs1800565EnsemblClinVar.1
Natural variantiVAR_029408668R → H in CMH4. 1 PublicationCorresponds to variant dbSNP:rs727503191EnsemblClinVar.1
Natural variantiVAR_029409668R → P in CMH4. 1 Publication1
Natural variantiVAR_042743669L → H in CMH4. 1 Publication1
Natural variantiVAR_029410733R → C in CMH4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397515956EnsemblClinVar.1
Natural variantiVAR_003919755N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 2 PublicationsCorresponds to variant dbSNP:rs1060501474Ensembl.1
Natural variantiVAR_042744759E → D in CMH4. 1 Publication1
Natural variantiVAR_029411770D → N in CMH4. 1 PublicationCorresponds to variant dbSNP:rs36211723EnsemblClinVar.1
Natural variantiVAR_074542771V → M in CMH4. 1 PublicationCorresponds to variant dbSNP:rs371488302EnsemblClinVar.1
Natural variantiVAR_029412792W → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs187830361EnsemblClinVar.1
Natural variantiVAR_029413810R → H in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs375675796EnsemblClinVar.1
Natural variantiVAR_019897811K → R in CMH4. 1 Publication1
Natural variantiVAR_029414811Missing in CMH4. 1 Publication1
Natural variantiVAR_029415813Missing in CMH4. 1 Publication1
Natural variantiVAR_074543814Missing in CMH4; no effect on protein abundance; no effect on endopeptidase activity. 1 Publication1
Natural variantiVAR_029416820R → Q in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs2856655EnsemblClinVar.1
Natural variantiVAR_019898833A → V in CMH4. 3 PublicationsCorresponds to variant dbSNP:rs3729952EnsemblClinVar.1
Natural variantiVAR_029418834R → T in CMH4. 1
Natural variantiVAR_029419834R → W in CMH4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752007810EnsemblClinVar.1
Natural variantiVAR_029420873P → H in CMH4. 1 PublicationCorresponds to variant dbSNP:rs371401403EnsemblClinVar.1
Natural variantiVAR_029421948N → T in CMH4. 1 PublicationCorresponds to variant dbSNP:rs121909376EnsemblClinVar.1
Natural variantiVAR_070453957T → S in CMH4. 1 PublicationCorresponds to variant dbSNP:rs193922380EnsemblClinVar.1
Natural variantiVAR_070454958T → I in CMH4. 1 PublicationCorresponds to variant dbSNP:rs376504548EnsemblClinVar.1
Natural variantiVAR_020574998Q → E in CMH4; no effect on protein abundance; no effect on endopeptidase activity. 3 PublicationsCorresponds to variant dbSNP:rs11570112EnsemblClinVar.1
Natural variantiVAR_029422998Q → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs727503177EnsemblClinVar.1
Natural variantiVAR_0294231002R → Q in CMH4. 1 PublicationCorresponds to variant dbSNP:rs727504235EnsemblClinVar.1
Natural variantiVAR_0294251003P → Q in CMH4. 1
Natural variantiVAR_0459301028T → S in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516002EnsemblClinVar.1
Natural variantiVAR_0745441046T → M in CMH4; no effect on protein abundance; no effect on endopeptidase activity. 1 PublicationCorresponds to variant dbSNP:rs371061770EnsemblClinVar.1
Natural variantiVAR_0294261113F → I in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1393559112Ensembl.1
Natural variantiVAR_0294271115V → I in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs531189495EnsemblClinVar.1
Natural variantiVAR_0294281131I → T in CMH4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370890951EnsemblClinVar.1
Natural variantiVAR_0294291155Missing in CMH4. 1
Natural variantiVAR_0199001194A → T in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516026EnsemblClinVar.1
Natural variantiVAR_0459311248G → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs202147520EnsemblClinVar.1
Natural variantiVAR_0199011255A → T in CMH4. 1 PublicationCorresponds to variant dbSNP:rs727503167EnsemblClinVar.1
Cardiomyopathy, dilated 1MM (CMD1MM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:615396
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0704551264C → F in CMD1MM. 1 PublicationCorresponds to variant dbSNP:rs397514751EnsemblClinVar.1
MYBPC3 mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness.1 Publication
Left ventricular non-compaction 10 (LVNC10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC10 is an autosomal dominant condition.
See also OMIM:615396
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070452873P → L in LVNC10. 1 PublicationCorresponds to variant dbSNP:rs371401403EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
4607

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

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GeneReviewsi
MYBPC3

MalaCards human disease database

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MalaCardsi
MYBPC3
MIMi115197 phenotype
615396 phenotype

Open Targets

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OpenTargetsi
ENSG00000134571

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

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Orphaneti
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31351

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MYBPC3

Domain mapping of disease mutations (DMDM)

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DMDMi
425906074

<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_00000726931 – 1274Myosin-binding protein C, cardiac-typeAdd BLAST1274

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 residuei1N-acetylmethionineBy similarity1
Modified residuei47PhosphoserineBy similarity1
Modified residuei275Phosphoserine; by PKA and PKCBy similarity1
Modified residuei284Phosphoserine; by PKA and PKCBy similarity1
Modified residuei304Phosphoserine; by PKA and PKCBy similarity1
Modified residuei311PhosphoserineBy similarity1
Modified residuei427PhosphoserineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi436 ↔ 443PROSITE-ProRule annotation
Modified residuei550PhosphoserineBy similarity1
Modified residuei607PhosphothreonineBy similarity1
Modified residuei1241Omega-N-methylarginineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity).By similarity
Polyubiquitinated.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

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

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PaxDbi
Q14896

PeptideAtlas

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PeptideAtlasi
Q14896

PRoteomics IDEntifications database

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PRIDEi
Q14896

ProteomicsDB human proteome resource

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ProteomicsDBi
60216

2D gel databases

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
Q14896

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14896

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

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PhosphoSitePlusi
Q14896

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000134571 Expressed in 101 organ(s), highest expression level in apex of heart

CleanEx database of gene expression profiles

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CleanExi
HS_MYBPC3

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14896 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14896 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA040147
HPA043898

<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%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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110692, 10 interactors

Protein interaction database and analysis system

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IntActi
Q14896, 14 interactors

Molecular INTeraction database

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MINTi
Q14896

STRING: functional protein association networks

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STRINGi
9606.ENSP00000442795

<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

11274
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q14896

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

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SMRi
Q14896

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q14896

<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>Domaini153 – 256Ig-like C2-type 1Add BLAST104
Domaini362 – 452Ig-like C2-type 2Add BLAST91
Domaini453 – 543Ig-like C2-type 3Add BLAST91
Domaini544 – 633Ig-like C2-type 4Add BLAST90
Domaini645 – 771Ig-like C2-type 5Add BLAST127
Domaini774 – 870Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST97
Domaini872 – 967Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST96
Domaini971 – 1065Ig-like C2-type 6Add BLAST95
Domaini1068 – 1163Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST96
Domaini1181 – 1274Ig-like C2-type 7Add BLAST94

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 biasi102 – 152Pro-richAdd BLAST51

<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 immunoglobulin superfamily. MyBP family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFCI Eukaryota
ENOG4110AYI LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157698

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000220906

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052560

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14896

KEGG Orthology (KO)

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KOi
K12568

Identification of Orthologs from Complete Genome Data

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OMAi
YSVEYCR

TreeFam database of animal gene trees

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TreeFami
TF351819

Family and domain databases

Conserved Domains Database

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CDDi
cd00063 FN3, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 11 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2

Pfam protein domain database

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Pfami
View protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 8 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00060 FN3, 3 hits
SM00409 IG, 8 hits
SM00408 IGc2, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48726 SSF48726, 8 hits
SSF49265 SSF49265, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50853 FN3, 3 hits
PS50835 IG_LIKE, 6 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 (2+)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 2 <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 splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14896-1) [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
MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS
60 70 80 90 100
ASNKYGLATE GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA
110 120 130 140 150
EPMLAPAPAP AEATGAPGEA PAPAAELGES APSPKGSSSA ALNGPTPGAP
160 170 180 190 200
DDPIGLFVMR PQDGEVTVGG SITFSARVAG ASLLKPPVVK WFKGKWVDLS
210 220 230 240 250
SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE VSTKDKFDCS
260 270 280 290 300
NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK
310 320 330 340 350
KRDSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK
360 370 380 390 400
RLKGMRRDEK KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG
410 420 430 440 450
QEIQMSGSKY IFESIGAKRT LTISQCSLAD DAAYQCVVGG EKCSTELFVK
460 470 480 490 500
EPPVLITRPL EDQLVMVGQR VEFECEVSEE GAQVKWLKDG VELTREETFK
510 520 530 540 550
YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV QEKKLEVYQS
560 570 580 590 600
IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK
610 620 630 640 650
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD
660 670 680 690 700
CPGRIPDTIV VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD
710 720 730 740 750
APEDTGDSDE WVFDKKLLCE TEGRVRVETT KDRSIFTVEG AEKEDEGVYT
760 770 780 790 800
VTVKNPVGED QVNLTVKVID VPDAPAAPKI SNVGEDSCTV QWEPPAYDGG
810 820 830 840 850
QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV VYEMRVYAVN
860 870 880 890 900
AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG
910 920 930 940 950
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA
960 970 980 990 1000
GPGAPVTTTE PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK
1010 1020 1030 1040 1050
PRPQVTWTKE GQPLAGEEVS IRNSPTDTIL FIRAARRVHS GTYQVTVRIE
1060 1070 1080 1090 1100
NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL NVALEWKPPQ DVGNTELWGY
1110 1120 1130 1140 1150
TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF SQNMVGFSDR
1160 1170 1180 1190 1200
AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML
1210 1220 1230 1240 1250
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI
1260 1270
YVCRATNLQG EARCECRLEV RVPQ
Length:1,274
Mass (Da):140,762
Last modified:November 28, 2012 - v4
<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:i4E5385C40085B796
GO
Isoform 2 (identifier: Q14896-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-409: SK → R

Show »
Length:1,273
Mass (Da):140,703
Checksum:iA23FC20A513F4920
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MXZ9A8MXZ9_HUMAN
Myosin-binding protein C, cardiac-t...
MYBPC3
1,274Annotation score:

Annotation score:1 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>
F5GZR4F5GZR4_HUMAN
Myosin-binding protein C, cardiac-t...
MYBPC3
808Annotation score:

Annotation score:1 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>
A0A0A0MQU5A0A0A0MQU5_HUMAN
Myosin-binding protein C, cardiac-t...
MYBPC3
1,274Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti248D → E (PubMed:7744002).Curated1
Sequence conflicti248D → E (PubMed:9048664).Curated1
Sequence conflicti302 – 303RD → SS in AAR89909 (Ref. 4) Curated2
Sequence conflicti536A → R in CAA58882 (PubMed:7744002).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0293905G → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs201278114EnsemblClinVar.1
Natural variantiVAR_02939159T → A in CMH4. 1 PublicationCorresponds to variant dbSNP:rs121909375EnsemblClinVar.1
Natural variantiVAR_074538147P → L1 PublicationCorresponds to variant dbSNP:rs730880615EnsemblClinVar.1
Natural variantiVAR_020085158V → M3 PublicationsCorresponds to variant dbSNP:rs3729986EnsemblClinVar.1
Natural variantiVAR_029392161P → S in CMH4. 1 Publication1
Natural variantiVAR_020568189V → I1 PublicationCorresponds to variant dbSNP:rs11570052EnsemblClinVar.1
Natural variantiVAR_029393219V → L in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516068EnsemblClinVar.1
Natural variantiVAR_029394228D → N in CMH4. 1 PublicationCorresponds to variant dbSNP:rs369300885EnsemblClinVar.1
Natural variantiVAR_020086236S → G9 PublicationsCorresponds to variant dbSNP:rs3729989EnsemblClinVar.1
Natural variantiVAR_029395237Y → S in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516070EnsemblClinVar.1
Natural variantiVAR_029396256V → I in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1444087775Ensembl.1
Natural variantiVAR_019889257H → P in CMH4. 1 Publication1
Natural variantiVAR_019890258E → K in CMH4. 8 PublicationsCorresponds to variant dbSNP:rs397516074EnsemblClinVar.1
Natural variantiVAR_042740263G → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs373730381EnsemblClinVar.1
Natural variantiVAR_070449272R → C in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516075EnsemblClinVar.1
Natural variantiVAR_042741273R → H in CMH4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376461745EnsemblClinVar.1
Natural variantiVAR_019891278G → E in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs147315081EnsemblClinVar.1
Natural variantiVAR_019892279G → A in CMH4. 1 PublicationCorresponds to variant dbSNP:rs375774648EnsemblClinVar.1
Natural variantiVAR_020569281R → Q1 PublicationCorresponds to variant dbSNP:rs11570060EnsemblClinVar.1
Natural variantiVAR_029397282R → W in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs727504234EnsemblClinVar.1
Natural variantiVAR_019893326R → Q10 PublicationsCorresponds to variant dbSNP:rs34580776EnsemblClinVar.1
Natural variantiVAR_074539334E → K in CMH4; also found in a patient with RCM; decreases protein abundance; increases polyubiquitination level; accelerates the degradation process; no effect on phosphorylation; decreases endopeptidase activity; increases apoptotic process. 2 PublicationsCorresponds to variant dbSNP:rs573916965EnsemblClinVar.1
Natural variantiVAR_070450336I → V in CMH4. 1 Publication1
Natural variantiVAR_074540342V → D in CMH4. 1 PublicationCorresponds to variant dbSNP:rs730880709Ensembl.1
Natural variantiVAR_019894352L → P in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1460895809Ensembl.1
Natural variantiVAR_020570382R → W2 PublicationsCorresponds to variant dbSNP:rs11570076EnsemblClinVar.1
Natural variantiVAR_020571383L → V1 PublicationCorresponds to variant dbSNP:rs11570077EnsemblClinVar.1
Natural variantiVAR_029398416G → S1 PublicationCorresponds to variant dbSNP:rs371513491EnsemblClinVar.1
Natural variantiVAR_042742417A → S in CMH4. 1 Publication1
Natural variantiVAR_027879451E → Q in CMH4. 1 Publication1
Natural variantiVAR_029399458R → H in CMH4. 1 PublicationCorresponds to variant dbSNP:rs374255707EnsemblClinVar.1
Natural variantiVAR_029400490G → R in CMH4, CMD1MM and LVNC10. 4 PublicationsCorresponds to variant dbSNP:rs200625851EnsemblClinVar.1
Natural variantiVAR_070451490G → V in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397514752EnsemblClinVar.1
Natural variantiVAR_045929495R → G in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397515905EnsemblClinVar.1
Natural variantiVAR_027880495R → Q in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs200411226EnsemblClinVar.1
Natural variantiVAR_027881502R → Q in CMH4. 3 PublicationsCorresponds to variant dbSNP:rs397515907EnsemblClinVar.1
Natural variantiVAR_019895502R → W in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs375882485EnsemblClinVar.1
Natural variantiVAR_019896504Missing in CMH4. 1 Publication1
Natural variantiVAR_029401507G → R in CMH4. 3 PublicationsCorresponds to variant dbSNP:rs35736435EnsemblClinVar.1
Natural variantiVAR_020573522A → T1 PublicationCorresponds to variant dbSNP:rs11570082EnsemblClinVar.1
Natural variantiVAR_029402523G → W in CMH4. 1 Publication1
Natural variantiVAR_003917542E → Q in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs121909374EnsemblClinVar.1
Natural variantiVAR_029403545L → M1 PublicationCorresponds to variant dbSNP:rs377163678EnsemblClinVar.1
Natural variantiVAR_079521562A → V in CMH4. 1 PublicationCorresponds to variant dbSNP:rs730880694Ensembl.1
Natural variantiVAR_029404566C → R in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs730880695EnsemblClinVar.1
Natural variantiVAR_029405604D → V in CMH4. 1 Publication1
Natural variantiVAR_029406605D → N in CMH4; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs376736293EnsemblClinVar.1
Natural variantiVAR_029407608P → L in CMH4. 1 Publication1
Natural variantiVAR_074541627A → V in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1352376969Ensembl.1
Natural variantiVAR_003918654R → H in CMH4; as well folded and stable as the wild-type. 2 PublicationsCorresponds to variant dbSNP:rs1800565EnsemblClinVar.1
Natural variantiVAR_029408668R → H in CMH4. 1 PublicationCorresponds to variant dbSNP:rs727503191EnsemblClinVar.1
Natural variantiVAR_029409668R → P in CMH4. 1 Publication1
Natural variantiVAR_042743669L → H in CMH4. 1 Publication1
Natural variantiVAR_029410733R → C in CMH4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397515956EnsemblClinVar.1
Natural variantiVAR_003919755N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 2 PublicationsCorresponds to variant dbSNP:rs1060501474Ensembl.1
Natural variantiVAR_042744759E → D in CMH4. 1 Publication1
Natural variantiVAR_029411770D → N in CMH4. 1 PublicationCorresponds to variant dbSNP:rs36211723EnsemblClinVar.1
Natural variantiVAR_074542771V → M in CMH4. 1 PublicationCorresponds to variant dbSNP:rs371488302EnsemblClinVar.1
Natural variantiVAR_029412792W → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs187830361EnsemblClinVar.1
Natural variantiVAR_029413810R → H in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs375675796EnsemblClinVar.1
Natural variantiVAR_019897811K → R in CMH4. 1 Publication1
Natural variantiVAR_029414811Missing in CMH4. 1 Publication1
Natural variantiVAR_029415813Missing in CMH4. 1 Publication1
Natural variantiVAR_074543814Missing in CMH4; no effect on protein abundance; no effect on endopeptidase activity. 1 Publication1
Natural variantiVAR_029416820R → Q in CMH4. 4 PublicationsCorresponds to variant dbSNP:rs2856655EnsemblClinVar.1
Natural variantiVAR_029417833A → T in CMH4 and CMD1MM. 5 PublicationsCorresponds to variant dbSNP:rs199865688EnsemblClinVar.1
Natural variantiVAR_019898833A → V in CMH4. 3 PublicationsCorresponds to variant dbSNP:rs3729952EnsemblClinVar.1
Natural variantiVAR_029418834R → T in CMH4. 1
Natural variantiVAR_029419834R → W in CMH4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752007810EnsemblClinVar.1
Natural variantiVAR_029420873P → H in CMH4. 1 PublicationCorresponds to variant dbSNP:rs371401403EnsemblClinVar.1
Natural variantiVAR_070452873P → L in LVNC10. 1 PublicationCorresponds to variant dbSNP:rs371401403EnsemblClinVar.1
Natural variantiVAR_019899896V → M May act as a phenotype modifier in cardiomyopathy patients. 6 PublicationsCorresponds to variant dbSNP:rs35078470EnsemblClinVar.1
Natural variantiVAR_029421948N → T in CMH4. 1 PublicationCorresponds to variant dbSNP:rs121909376EnsemblClinVar.1
Natural variantiVAR_070453957T → S in CMH4. 1 PublicationCorresponds to variant dbSNP:rs193922380EnsemblClinVar.1
Natural variantiVAR_070454958T → I in CMH4. 1 PublicationCorresponds to variant dbSNP:rs376504548EnsemblClinVar.1
Natural variantiVAR_020574998Q → E in CMH4; no effect on protein abundance; no effect on endopeptidase activity. 3 PublicationsCorresponds to variant dbSNP:rs11570112EnsemblClinVar.1
Natural variantiVAR_029422998Q → R in CMH4. 1 PublicationCorresponds to variant dbSNP:rs727503177EnsemblClinVar.1
Natural variantiVAR_0294231002R → Q in CMH4. 1 PublicationCorresponds to variant dbSNP:rs727504235EnsemblClinVar.1
Natural variantiVAR_0294241002R → W1 PublicationCorresponds to variant dbSNP:rs3729799EnsemblClinVar.1
Natural variantiVAR_0294251003P → Q in CMH4. 1
Natural variantiVAR_0459301028T → S in CMH4. 1 PublicationCorresponds to variant dbSNP:rs397516002EnsemblClinVar.1
Natural variantiVAR_0745441046T → M in CMH4; no effect on protein abundance; no effect on endopeptidase activity. 1 PublicationCorresponds to variant dbSNP:rs371061770EnsemblClinVar.1
Natural variantiVAR_0205751048R → C1 PublicationCorresponds to variant dbSNP:rs11570113EnsemblClinVar.1
Natural variantiVAR_0294261113F → I in CMH4. 1 PublicationCorresponds to variant dbSNP:rs1393559112Ensembl.1
Natural variantiVAR_0294271115V → I in CMH4. 2 PublicationsCorresponds to variant dbSNP:rs531189495EnsemblClinVar.1
Natural variantiVAR_0294281131I → T in CMH4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs370890951EnsemblClinVar.1
Natural variantiVAR_0745451138R → H1 PublicationCorresponds to variant dbSNP:rs187705120EnsemblClinVar.1
Natural variantiVAR_0294291155Missing in CMH4. 1
Natural variantiVAR_0199001194A → T in CMH4. 1 Publication