Q14896 - MYPC3_HUMAN
UniProt
Q14896 - MYPC3_HUMAN
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Protein
Myosin-binding protein C, cardiac-type
Gene
MYBPC3
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: <p>Annotation score: 5 out of 5</p>
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome.</p><p><a href='../manual/annotation_score' target='_top'>More...</a></p>Annotation score: 5 out of 5-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><p><a href='../manual/protein_existence' target='_top'>More...</a></p>
- BLAST>sp|Q14896|MYPC3_HUMAN Myosin-binding protein C, cardiac-type OS=Homo sapiens GN=MYBPC3 PE=1 SV=4 MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRGGSDISASNKYGLATE GTRHTLTVREVGPADQGSYAVIAGSSKVKFDLKVIEAEKAEPMLAPAPAPAEATGAPGEA PAPAAELGESAPSPKGSSSAALNGPTPGAPDDPIGLFVMRPQDGEVTVGGSITFSARVAG ASLLKPPVVKWFKGKWVDLSSKVGQHLQLHDSYDRASKVYLFELHITDAQPAFTGSYRCE VSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGGRRISDSHEDTGILDFSSLLK KRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQYGVTDLRGMLKRLKGMRRDEK KSTAFQKKLEPAYQVSKGHKIRLTVELADHDAEVKWLKNGQEIQMSGSKYIFESIGAKRT LTISQCSLADDAAYQCVVGGEKCSTELFVKEPPVLITRPLEDQLVMVGQRVEFECEVSEE GAQVKWLKDGVELTREETFKYRFKKDGQRHHLIINEAMLEDAGHYALCTSGGQALAELIV QEKKLEVYQSIADLMVGAKDQAVFKCEVSDENVRGVWLKNGKELVPDSRIKVSHIGRVHK LTIDDVTPADEADYSFVPEGFACNLSAKLHFMEVKIDFVPRQEPPKIHLDCPGRIPDTIV VVAGNKLRLDVPISGDPAPTVIWQKAITQGNKAPARPAPDAPEDTGDSDEWVFDKKLLCE TEGRVRVETTKDRSIFTVEGAEKEDEGVYTVTVKNPVGEDQVNLTVKVIDVPDAPAAPKI SNVGEDSCTVQWEPPAYDGGQPILGYILERKKKKSYRWMRLNFDLIQELSHEARRMIEGV VYEMRVYAVNAIGMSRPSPASQPFMPIGPPSEPTHLAVEDVSDTTVSLKWRPPERVGAGG LDGYSVEYCPEGCSEWVAALQGLTEHTSILVKDLPTGARLLFRVRAHNMAGPGAPVTTTE PVTVQEILQRPRLQLPRHLRQTIQKKVGEPVNLLIPFQGKPRPQVTWTKEGQPLAGEEVS IRNSPTDTILFIRAARRVHSGTYQVTVRIENMEDKATLVLQVVDKPSPPQDLRVTDAWGL NVALEWKPPQDVGNTELWGYTVQKADKKTMEWFTVLEHYRRTHCVVPELIIGNGYYFRVF SQNMVGFSDRAATTKEPVFIPRPGITYEPPNYKALDFSEAPSFTQPLVNRSVIAGYTAML CCAVRGSPKPKISWFKNGLDLGEDARFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQG EARCECRLEVRVPQ
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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/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 key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.</p><p><a href='../manual/metal' target='_top'>More...</a></p>Metal bindingi | 208 – 208 | 1 | Zinc |   | ||
| <p>Indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.</p><p><a href='../manual/metal' target='_top'>More...</a></p>Metal bindingi | 210 – 210 | 1 | Zinc | | ||
| <p>Indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.</p><p><a href='../manual/metal' target='_top'>More...</a></p>Metal bindingi | 223 – 223 | 1 | Zinc | | ||
| <p>Indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.</p><p><a href='../manual/metal' target='_top'>More...</a></p>Metal bindingi | 225 – 225 | 1 | Zinc | |
<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ATPase activator activity Source: BHF-UCL
- identical protein binding Source: IntAct
<p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- metal ion binding Source: UniProtKB-KW
- myosin binding Source: BHF-UCL
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- myosin heavy chain binding Source: BHF-UCL
<p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- structural constituent of muscle Source: BHF-UCL
<p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- titin binding Source: BHF-UCL
<p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- cardiac muscle contraction Source: BHF-UCL
- cell adhesion Source: UniProtKB-KW
- heart morphogenesis Source: BHF-UCL
<p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- muscle filament sliding Source: Reactome
- myosin filament assembly Source: Ensembl
- positive regulation of ATPase activity Source: BHF-UCL
- regulation of heart rate Source: Ensembl
- regulation of muscle filament sliding Source: BHF-UCL
- regulation of striated muscle contraction Source: BHF-UCL
- sarcomere organization Source: Ensembl
- ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
<p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Molecular functioni
Muscle protein<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Biological processi
Cell adhesion<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Ligandi
Actin-binding, Metal-binding, ZincEnzyme and pathway databases
| Reactome - a knowledgebase of biological pathways and processes<br/><a href='/database/88'>More..</a>Reactomei | REACT_16969. Striated Muscle Contraction. |
<p>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><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>Provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.</p><p><a href='../manual/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Myosin-binding protein C, cardiac-typeShort name: Cardiac MyBP-C Alternative name(s): C-protein, cardiac muscle isoform |
| <p>Indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. 4 distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.</p><p><a href='../manual/gene_name' target='_top'>More...</a></p>Gene namesi | Name:MYBPC3 |
| <p>Provides information on the name(s) of the organism that is the source of the protein sequence.</p><p><a href='../manual/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>Shows the unique identifier assigned by the <span class="caps">NCBI</span> to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.</p><p><a href='../manual/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>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><p><a href='../manual/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>Is present for entries that are part of a <a href="/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.</p><p><a href='../manual/proteomes_manual' target='_top'>More...</a></p>Proteomesi | UP000005640: Chromosome 11 |
Organism-specific databases
| Human Gene Nomenclature Database<br/><a href='/database/42'>More..</a>HGNCi | HGNC:7551. MYBPC3. |
<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti
- A band Source: BHF-UCL
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- cytosol Source: Reactome
- C zone Source: BHF-UCL
<p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- sarcomere Source: BHF-UCL
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- striated muscle myosin thick filament Source: BHF-UCL
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Cellular componenti
Thick filament<p>Provides information on the disease(s) and phenotype(s) associated with the deficiency of a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>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"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Cardiomyopathy, familial hypertrophic 422 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.1"Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?"
Gautel M., Zuffardi O., Freiburg A., Labeit S.
EMBO J. 14:1952-1960(1995) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMH4 GLN-820. - Ref.2"Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy."
Carrier L., Bonne G., Bahrend E., Yu B., Richard P., Niel F., Hainque B., Cruaud C., Gary F., Labeit S., Bouhour J.-B., Dubourg O., Desnos M., Hagege A.A., Trent R.J., Komajda M., Fiszman M., Schwartz K.
Circ. Res. 80:427-434(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-542 AND GLN-820. - Ref.3"Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy."
Niimura H., Bachinski L.L., Sangwatanaroj S., Watkins H., Chudley A.E., McKenna W., Kristinsson A., Roberts R., Sole M., Maron B.J., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 338:1248-1257(1998) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-451; GLN-495 AND GLN-502. - Ref.14"Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene."
Yu B., French J.A., Carrier L., Jeremy R.W., McTaggart D.R., Nicholson M.R., Hambly B., Semsarian C., Richmond D.R., Schwartz K., Trent R.J.
J. Med. Genet. 35:205-210(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 LYS-755. - Ref.15"Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy."
Moolman-Smook J.C., Mayosi B., Brink P., Corfield V.A.
J. Med. Genet. 35:253-254(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 HIS-654. - Ref.17"Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations."
Maron B.J., Niimura H., Casey S.A., Soper M.K., Wright G.B., Seidman J.G., Seidman C.E.
J. Am. Coll. Cardiol. 38:315-321(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 GLN-495, VARIANT GLN-326. - Ref.18"Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy."
Erdmann J., Raible J., Maki-Abadi J., Hummel M., Hammann J., Wollnik B., Frantz E., Fleck E., Hetzer R., Regitz-Zagrosek V.
J. Am. Coll. Cardiol. 38:322-330(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 TRP-282; ARG-507; ARG-566 AND ILE-1115. - Ref.19"Novel mutations in sarcomeric protein genes in dilated cardiomyopathy."
Daehmlow S., Erdmann J., Knueppel T., Gille C., Froemmel C., Hummel M., Hetzer R., Regitz-Zagrosek V.
Biochem. Biophys. Res. Commun. 298:116-120(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 THR-948, VARIANTS GLY-236 AND GLN-326. - Ref.20"Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."
Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., Seidman C.E.
Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 ALA-59 AND GLN-1002, VARIANT GLN-326. - Ref.21"Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
Nanni L., Pieroni M., Chimenti C., Simionati B., Zimbello R., Maseri A., Frustaci A., Lanfranchi G.
Biochem. Biophys. Res. Commun. 309:391-398(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; HIS-810; GLN-820 AND HIS-873. - Ref.22"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 PRO-257; LYS-258; GLU-278; ALA-279; PRO-352; TRP-502; LYS-504 DEL; GLN-542; ARG-811; VAL-833; THR-1194 AND THR-1255, VARIANTS GLN-326 AND MET-896. - Ref.23"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.
Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; TRP-282; ARG-507; TRP-523; ARG-566; PRO-668; VAL-833 AND ILE-1115, VARIANTS GLY-236 AND GLN-326. - Ref.24"The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands."
Alders M., Jongbloed R., Deelen W., van den Wijngaard A., Doevendans P., Ten Cate F., Regitz-Zagrosek V., Vosberg H.-P., van Langen I., Wilde A., Dooijes D., Mannens M.
Eur. Heart J. 24:1848-1853(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 SER-161; LYS-258; ASN-605; THR-833; TRP-834 AND THR-1131. - Ref.25"A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients."
Konno T., Shimizu M., Ino H., Matsuyama T., Yamaguchi M., Terai H., Hayashi K., Mabuchi T., Kiyama M., Sakata K., Hayashi T., Inoue M., Kaneda T., Mabuchi H.
J. Am. Coll. Cardiol. 41:781-786(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 GLN-820. - Ref.26"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.
J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 SER-237; HIS-668 AND THR-833, VARIANTS GLN-326 AND MET-896. - Ref.27"Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency."
Andersen P.S., Havndrup O., Bundgaard H., Larsen L.A., Vuust J., Pedersen A.K., Kjeldsen K., Christiansen M.
Eur. J. Hum. Genet. 12:673-677(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 ASN-228; LYS-258; LYS-813 DEL AND THR-833. - Ref.28"Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy."
Van Driest S.L., Vasile V.C., Ommen S.R., Will M.L., Tajik A.J., Gersh B.J., Ackerman M.J.
J. Am. Coll. Cardiol. 44:1903-1910(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 ARG-5; LEU-219; ILE-256; LYS-258; HIS-458; ARG-490; GLN-495; TRP-502; GLN-542; VAL-604; ASN-605; LEU-608; CYS-733; ASN-770; ARG-792; HIS-810; LYS-811 DEL; THR-833; GLU-998; ARG-998; ILE-1113 AND THR-1131, VARIANTS MET-158; GLY-236; GLN-326; TRP-382; SER-416; ARG-507; MET-545 AND MET-896. - Ref.30"Mutations profile in Chinese patients with hypertrophic cardiomyopathy."
Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X., Wang H., Li J., Hui R.
Clin. Chim. Acta 351:209-216(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; ARG-263; SER-417; HIS-669 AND ASP-759. - Ref.31"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.
J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 HIS-273; TRP-502 AND GLN-542, VARIANT GLN-326. - Ref.32"Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene."
Ehlermann P., Weichenhan D., Zehelein J., Steen H., Pribe R., Zeller R., Lehrke S., Zugck C., Ivandic B.T., Katus H.A.
BMC Med. Genet. 9:95-95(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; CYS-272; VAL-336; GLN-495; GLN-502; SER-957 AND ILE-958. - Ref.33"Shared genetic causes of cardiac hypertrophy in children and adults."
Morita H., Rehm H.L., Menesses A., McDonough B., Roberts A.E., Kucherlapati R., Towbin J.A., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 GLU-278; ARG-490; GLY-495; GLN-502; TRP-502; ASN-605; SER-1028 AND ARG-1248, VARIANTS MET-158; GLY-236; GLN-326; MET-896 AND TRP-1002. - Ref.36"Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy."
Wang Y., Wang Z., Yang Q., Zou Y., Zhang H., Yan C., Feng X., Chen Y., Zhang Y., Wang J., Zhou X., Ahmad F., Hui R., Song L.
PLoS ONE 8:E67087-E67087(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 VAL-490.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.1"Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?"
Gautel M., Zuffardi O., Freiburg A., Labeit S.
EMBO J. 14:1952-1960(1995) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMH4 GLN-820. - Ref.2"Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy."
Carrier L., Bonne G., Bahrend E., Yu B., Richard P., Niel F., Hainque B., Cruaud C., Gary F., Labeit S., Bouhour J.-B., Dubourg O., Desnos M., Hagege A.A., Trent R.J., Komajda M., Fiszman M., Schwartz K.
Circ. Res. 80:427-434(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-542 AND GLN-820. - Ref.3"Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy."
Niimura H., Bachinski L.L., Sangwatanaroj S., Watkins H., Chudley A.E., McKenna W., Kristinsson A., Roberts R., Sole M., Maron B.J., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 338:1248-1257(1998) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-451; GLN-495 AND GLN-502. - Ref.14"Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene."
Yu B., French J.A., Carrier L., Jeremy R.W., McTaggart D.R., Nicholson M.R., Hambly B., Semsarian C., Richmond D.R., Schwartz K., Trent R.J.
J. Med. Genet. 35:205-210(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 LYS-755. - Ref.15"Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy."
Moolman-Smook J.C., Mayosi B., Brink P., Corfield V.A.
J. Med. Genet. 35:253-254(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 HIS-654. - Ref.17"Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations."
Maron B.J., Niimura H., Casey S.A., Soper M.K., Wright G.B., Seidman J.G., Seidman C.E.
J. Am. Coll. Cardiol. 38:315-321(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 GLN-495, VARIANT GLN-326. - Ref.18"Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy."
Erdmann J., Raible J., Maki-Abadi J., Hummel M., Hammann J., Wollnik B., Frantz E., Fleck E., Hetzer R., Regitz-Zagrosek V.
J. Am. Coll. Cardiol. 38:322-330(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 TRP-282; ARG-507; ARG-566 AND ILE-1115. - Ref.19"Novel mutations in sarcomeric protein genes in dilated cardiomyopathy."
Daehmlow S., Erdmann J., Knueppel T., Gille C., Froemmel C., Hummel M., Hetzer R., Regitz-Zagrosek V.
Biochem. Biophys. Res. Commun. 298:116-120(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 THR-948, VARIANTS GLY-236 AND GLN-326. - Ref.20"Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."
Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., Seidman C.E.
Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 ALA-59 AND GLN-1002, VARIANT GLN-326. - Ref.21"Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
Nanni L., Pieroni M., Chimenti C., Simionati B., Zimbello R., Maseri A., Frustaci A., Lanfranchi G.
Biochem. Biophys. Res. Commun. 309:391-398(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; HIS-810; GLN-820 AND HIS-873. - Ref.22"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 PRO-257; LYS-258; GLU-278; ALA-279; PRO-352; TRP-502; LYS-504 DEL; GLN-542; ARG-811; VAL-833; THR-1194 AND THR-1255, VARIANTS GLN-326 AND MET-896. - Ref.23"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.
Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; TRP-282; ARG-507; TRP-523; ARG-566; PRO-668; VAL-833 AND ILE-1115, VARIANTS GLY-236 AND GLN-326. - Ref.24"The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands."
Alders M., Jongbloed R., Deelen W., van den Wijngaard A., Doevendans P., Ten Cate F., Regitz-Zagrosek V., Vosberg H.-P., van Langen I., Wilde A., Dooijes D., Mannens M.
Eur. Heart J. 24:1848-1853(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 SER-161; LYS-258; ASN-605; THR-833; TRP-834 AND THR-1131. - Ref.25"A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients."
Konno T., Shimizu M., Ino H., Matsuyama T., Yamaguchi M., Terai H., Hayashi K., Mabuchi T., Kiyama M., Sakata K., Hayashi T., Inoue M., Kaneda T., Mabuchi H.
J. Am. Coll. Cardiol. 41:781-786(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 GLN-820. - Ref.26"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.
J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 SER-237; HIS-668 AND THR-833, VARIANTS GLN-326 AND MET-896. - Ref.27"Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency."
Andersen P.S., Havndrup O., Bundgaard H., Larsen L.A., Vuust J., Pedersen A.K., Kjeldsen K., Christiansen M.
Eur. J. Hum. Genet. 12:673-677(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 ASN-228; LYS-258; LYS-813 DEL AND THR-833. - Ref.28"Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy."
Van Driest S.L., Vasile V.C., Ommen S.R., Will M.L., Tajik A.J., Gersh B.J., Ackerman M.J.
J. Am. Coll. Cardiol. 44:1903-1910(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 ARG-5; LEU-219; ILE-256; LYS-258; HIS-458; ARG-490; GLN-495; TRP-502; GLN-542; VAL-604; ASN-605; LEU-608; CYS-733; ASN-770; ARG-792; HIS-810; LYS-811 DEL; THR-833; GLU-998; ARG-998; ILE-1113 AND THR-1131, VARIANTS MET-158; GLY-236; GLN-326; TRP-382; SER-416; ARG-507; MET-545 AND MET-896. - Ref.30"Mutations profile in Chinese patients with hypertrophic cardiomyopathy."
Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X., Wang H., Li J., Hui R.
Clin. Chim. Acta 351:209-216(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; ARG-263; SER-417; HIS-669 AND ASP-759. - Ref.31"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.
J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 HIS-273; TRP-502 AND GLN-542, VARIANT GLN-326. - Ref.32"Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene."
Ehlermann P., Weichenhan D., Zehelein J., Steen H., Pribe R., Zeller R., Lehrke S., Zugck C., Ivandic B.T., Katus H.A.
BMC Med. Genet. 9:95-95(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 LYS-258; CYS-272; VAL-336; GLN-495; GLN-502; SER-957 AND ILE-958. - Ref.33"Shared genetic causes of cardiac hypertrophy in children and adults."
Morita H., Rehm H.L., Menesses A., McDonough B., Roberts A.E., Kucherlapati R., Towbin J.A., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMH4 GLU-278; ARG-490; GLY-495; GLN-502; TRP-502; ASN-605; SER-1028 AND ARG-1248, VARIANTS MET-158; GLY-236; GLN-326; MET-896 AND TRP-1002. - Ref.36"Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy."
Wang Y., Wang Z., Yang Q., Zou Y., Zhang H., Yan C., Feng X., Chen Y., Zhang Y., Wang J., Zhou X., Ahmad F., Hui R., Song L.
PLoS ONE 8:E67087-E67087(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMH4 VAL-490.
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 5 – 5 | 1 | G → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029390 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 59 – 59 | 1 | T → A in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029391 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 161 – 161 | 1 | P → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029392 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 219 – 219 | 1 | V → L in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029393 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 228 – 228 | 1 | D → N in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029394 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 237 – 237 | 1 | Y → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029395 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 256 – 256 | 1 | V → I in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029396 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 257 – 257 | 1 | H → P in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019889 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 258 – 258 | 1 | E → K in CMH4. 8 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019890 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 263 – 263 | 1 | G → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042740 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 272 – 272 | 1 | R → C in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070449 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 273 – 273 | 1 | R → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042741 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 278 – 278 | 1 | G → E in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs147315081 [ dbSNP | Ensembl ]. | | VAR_019891 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 279 – 279 | 1 | G → A in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019892 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 282 – 282 | 1 | R → W in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029397 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 336 – 336 | 1 | I → V in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070450 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 352 – 352 | 1 | L → P in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019894 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 417 – 417 | 1 | A → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042742 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 451 – 451 | 1 | E → Q in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_027879 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 458 – 458 | 1 | R → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029399 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 490 – 490 | 1 | G → R in CMH4, CMD1MM and LVNC10. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029400 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 490 – 490 | 1 | G → V in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070451 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 495 – 495 | 1 | R → G in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_045929 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 495 – 495 | 1 | R → Q in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_027880 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 502 – 502 | 1 | R → Q in CMH4. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_027881 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 502 – 502 | 1 | R → W in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019895 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 504 – 504 | 1 | Missing in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019896 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 507 – 507 | 1 | G → R in CMH4. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs35736435 [ dbSNP | Ensembl ]. | | VAR_029401 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 523 – 523 | 1 | G → W in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029402 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 542 – 542 | 1 | E → Q in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_003917 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 566 – 566 | 1 | C → R in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029404 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 604 – 604 | 1 | D → V in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029405 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 605 – 605 | 1 | D → N in CMH4; unknown pathological significance. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029406 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 608 – 608 | 1 | P → L in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029407 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 654 – 654 | 1 | R → H in CMH4; as well folded and stable as the wild-type. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs1800565 [ dbSNP | Ensembl ]. | | VAR_003918 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 668 – 668 | 1 | R → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029408 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 668 – 668 | 1 | R → P in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029409 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 669 – 669 | 1 | L → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042743 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 733 – 733 | 1 | R → C in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029410 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 755 – 755 | 1 | N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_003919 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 759 – 759 | 1 | E → D in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042744 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 770 – 770 | 1 | D → N in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs36211723 [ dbSNP | Ensembl ]. | | VAR_029411 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 792 – 792 | 1 | W → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029412 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 810 – 810 | 1 | R → H in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029413 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 811 – 811 | 1 | K → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019897 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 811 – 811 | 1 | Missing in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029414 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 813 – 813 | 1 | Missing in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029415 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 820 – 820 | 1 | R → Q in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs2856655 [ dbSNP | Ensembl ]. | | VAR_029416 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 833 – 833 | 1 | A → T in CMH4 and CMD1MM. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029417 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 833 – 833 | 1 | A → V in CMH4. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs3729952 [ dbSNP | Ensembl ]. | | VAR_019898 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 834 – 834 | 1 | R → T in CMH4. | | VAR_029418 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 834 – 834 | 1 | R → W in CMH4; pathogenicity is uncertain. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029419 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 873 – 873 | 1 | P → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029420 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 948 – 948 | 1 | N → T in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029421 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 957 – 957 | 1 | T → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070453 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 958 – 958 | 1 | T → I in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070454 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 998 – 998 | 1 | Q → E in CMH4; dbNP:11570112. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570112 [ dbSNP | Ensembl ]. | | VAR_020574 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 998 – 998 | 1 | Q → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029422 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1002 – 1002 | 1 | R → Q in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029423 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1003 – 1003 | 1 | P → Q in CMH4. | | VAR_029425 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1028 – 1028 | 1 | T → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_045930 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1113 – 1113 | 1 | F → I in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029426 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1115 – 1115 | 1 | V → I in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029427 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1131 – 1131 | 1 | I → T in CMH4; unknown pathological significance. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029428 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1155 – 1155 | 1 | Missing in CMH4. | | VAR_029429 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1194 – 1194 | 1 | A → T in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019900 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1248 – 1248 | 1 | G → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_045931 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1255 – 1255 | 1 | A → T in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019901 |
Cardiomyopathy, dilated 1MM1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.34"Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy."
Hershberger R.E., Norton N., Morales A., Li D., Siegfried J.D., Gonzalez-Quintana J.
Circ. Cardiovasc. Genet. 3:155-161(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1MM ARG-490; THR-833 AND PHE-1264.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.34"Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy."
Hershberger R.E., Norton N., Morales A., Li D., Siegfried J.D., Gonzalez-Quintana J.
Circ. Cardiovasc. Genet. 3:155-161(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1MM ARG-490; THR-833 AND PHE-1264.
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 490 – 490 | 1 | G → R in CMH4, CMD1MM and LVNC10. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029400 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 833 – 833 | 1 | A → T in CMH4 and CMD1MM. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029417 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1264 – 1264 | 1 | C → F in CMD1MM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070455 |
Left ventricular non-compaction 101 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.35"Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype."
Probst S., Oechslin E., Schuler P., Greutmann M., Boye P., Knirsch W., Berger F., Thierfelder L., Jenni R., Klaassen S.
Circ. Cardiovasc. Genet. 4:367-374(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS LVNC10 ARG-490 AND LEU-873.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.35"Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype."
Probst S., Oechslin E., Schuler P., Greutmann M., Boye P., Knirsch W., Berger F., Thierfelder L., Jenni R., Klaassen S.
Circ. Cardiovasc. Genet. 4:367-374(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS LVNC10 ARG-490 AND LEU-873.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.
See also OMIM:615396| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 490 – 490 | 1 | G → R in CMH4, CMD1MM and LVNC10. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029400 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 873 – 873 | 1 | P → L in LVNC10. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070452 |
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Diseasei
Cardiomyopathy, Disease mutationOrganism-specific databases
| Online Mendelian Inheritance in Man (OMIM)<br/><a href='/database/62'>More..</a>MIMi | 115197. phenotype. 615396. phenotype. |
| Orphanet; a database dedicated to information on rare diseases and orphan drugs<br/><a href='/database/68'>More..</a>Orphaneti | 154. Familial isolated dilated cardiomyopathy. 155. Familial isolated hypertrophic cardiomyopathy. 54260. Left ventricular noncompaction. |
| The Pharmacogenetics and Pharmacogenomics Knowledge Base<br/><a href='/database/74'>More..</a>PharmGKBi | PA31351. |
<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini | 1 – 1274 | 1274 | Myosin-binding protein C, cardiac-type | | PRO_0000072693 | Add BLAST |
Amino acid modifications
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei | 1 – 1 | 1 | N-acetylmethionineBy similarity | | ||
| <p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei | 275 – 275 | 1 | Phosphoserine; by PKA and PKCBy similarity | | ||
| <p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei | 284 – 284 | 1 | Phosphoserine; by PKA and PKCBy similarity | | ||
| <p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei | 304 – 304 | 1 | Phosphoserine; by PKA and PKCBy similarity | | ||
| <p>Describes the positions of cysteine residues participating in disulfide bonds.</p><p><a href='../manual/disulfid' target='_top'>More...</a></p>Disulfide bondi | 436 ↔ 443 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi | |
<p>Describes post-translational modifications (PTMs). This subsection complements the information provided at the sequence level or describes modifications for which position-specific data is not yet available.</p><p><a href='../manual/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
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - PTMi
Acetylation, Disulfide bond, PhosphoproteinProteomic databases
| PaxDb, a database of protein abundance averages across all three domains of life.<br/><a href='/database/173'>More..</a>PaxDbi | Q14896. |
| PRoteomics IDEntifications database<br/><a href='/database/130'>More..</a>PRIDEi | Q14896. |
2D gel databases
| UCD-2DPAGE | Q14896. |
PTM databases
| Phosphorylation site database<br/><a href='/database/123'>More..</a>PhosphoSitei | Q14896. |
<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni
Gene expression databases
| Bgee dataBase for Gene Expression Evolution<br/><a href='/database/133'>More..</a>Bgeei | Q14896. |
| CleanEx database of gene expression profiles<br/><a href='/database/8'>More..</a>CleanExi | HS_MYBPC3. |
| ExpressionAtlas, Differential and Baseline Expression<br/><a href='/database/4'>More..</a>ExpressionAtlasi | Q14896. baseline and differential. |
| Genevestigator<br/><a href='/database/142'>More..</a>Genevestigatori | Q14896. |
Organism-specific databases
| Human Protein Atlas<br/><a href='/database/46'>More..</a>HPAi | HPA040147. HPA043898. |
<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni
<p>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><p><a href='../manual/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| itself | 2 | EBI-704176,EBI-704176 |
Protein-protein interaction databases
| The Biological General Repository for Interaction Datasets (BioGrid)<br/><a href='/database/184'>More..</a>BioGridi | 110692. 10 interactions. |
| Protein interaction database and analysis system<br/><a href='/database/51'>More..</a>IntActi | Q14896. 3 interactions. |
| Molecular INTeraction database<br/><a href='/database/158'>More..</a>MINTi | MINT-6174801. |
| STRING: functional protein association networks<br/><a href='/database/141'>More..</a>STRINGi | 9606.ENSP00000382193. |
<p>Provides information on the tertiary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
1
1274
Legend: HelixTurnBeta strand
Show more detailsHide details| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 19 – 22 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 27 – 32 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 34 – 37 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 41 – 43 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 45 – 49 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 56 – 60 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 63 – 70 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 77 – 83 | 7 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 86 – 95 | 10 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 156 – 159 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 164 – 167 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 172 – 179 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 184 – 186 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 188 – 193 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 194 – 196 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 199 – 202 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 207 – 214 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 215 – 218 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 219 – 226 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 231 – 233 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 235 – 242 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 247 – 257 | 11 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 456 – 458 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 465 – 467 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 471 – 474 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 475 – 479 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 486 – 488 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 499 – 506 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 509 – 517 | 9 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 519 – 521 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 524 – 528 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 533 – 537 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 650 – 652 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 658 – 665 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 670 – 672 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 675 – 677 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 680 – 686 | 7 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 722 – 724 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 726 – 730 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 733 – 737 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 743 – 745 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 747 – 754 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 759 – 768 | 10 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | |
3D structure databases
|
Select the link destinations: Protein Data Bank Europe<br/><a href='/database/70'>More..</a>PDBei Protein Data Bank RCSB<br/><a href='/database/171'>More..</a>RCSB PDBi Protein Data Bank Japan<br/><a href='/database/172'>More..</a>PDBji Links Updated |
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| Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase<br/><a href='/database/159'>More..</a>ProteinModelPortali | Q14896. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SWISS-MODEL Repository - a database of annotated 3D protein structure models<br/><a href='/database/98'>More..</a>SMRi | Q14896. Positions 2-96, 151-258, 319-353, 358-1168, 1181-1271. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Database of comparative protein structure models<br/><a href='/database/63'>More..</a>ModBasei | Search... | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| MobiDB: a database of protein disorder and mobility annotations<br/><a href='/database/183'>More..</a>MobiDBi | Search... |
Miscellaneous databases
| Relative evolutionary importance of amino acids within a protein sequence.<br/><a href='/database/168'>More..</a>EvolutionaryTracei | Q14896. |
<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 153 – 256 | 104 | Ig-like C2-type 1 | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 362 – 452 | 91 | Ig-like C2-type 2 | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 453 – 543 | 91 | Ig-like C2-type 3 | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 544 – 633 | 90 | Ig-like C2-type 4 | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 645 – 771 | 127 | Ig-like C2-type 5 | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 774 – 870 | 97 | Fibronectin type-III 1PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 872 – 967 | 96 | Fibronectin type-III 2PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 971 – 1065 | 95 | Ig-like C2-type 6 | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 1068 – 1163 | 96 | Fibronectin type-III 3PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi | | Add BLAST | |
| <p>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><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini | 1181 – 1274 | 94 | Ig-like C2-type 7 | | Add BLAST |
Compositional bias
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi | 102 – 152 | 51 | Pro-rich | | Add BLAST |
<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
Contains 3 fibronectin type-III domains.PROSITE-ProRule annotation
<p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi
Contains 7 Ig-like C2-type (immunoglobulin-like) domains.Curated
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Domaini
Immunoglobulin domain, RepeatPhylogenomic databases
| evolutionary genealogy of genes: Non-supervised Orthologous Groups<br/><a href='/database/152'>More..</a>eggNOGi | NOG12793. |
| GeneTree<br/><a href='/database/162'>More..</a>GeneTreei | ENSGT00760000119038. |
| The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms<br/><a href='/database/44'>More..</a>HOGENOMi | HOG000220906. |
| The HOVERGEN Database of Homologous Vertebrate Genes<br/><a href='/database/45'>More..</a>HOVERGENi | HBG052560. |
| InParanoid: Eukaryotic Ortholog Groups<br/><a href='/database/146'>More..</a>InParanoidi | Q14896. |
| KEGG Orthology (KO)<br/><a href='/database/164'>More..</a>KOi | K12568. |
| Identification of Orthologs from Complete Genome Data<br/><a href='/database/137'>More..</a>OMAi | RVFSHNM. |
| Database of Orthologous Groups<br/><a href='/database/143'>More..</a>OrthoDBi | EOG7WX07H. |
| TreeFam database of animal gene trees<br/><a href='/database/185'>More..</a>TreeFami | TF351819. |
Family and domain databases
| Gene3D Structural and Functional Annotation of Protein Families<br/><a href='/database/29'>More..</a>Gene3Di | 2.60.40.10. 11 hits. |
| Integrated resource of protein families, domains and functional sites<br/><a href='/database/52'>More..</a>InterProi | IPR003961. FN3_dom. IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. [Graphical view] |
| Pfam protein domain database<br/><a href='/database/73'>More..</a>Pfami | PF00041. fn3. 3 hits. PF07679. I-set. 8 hits. [Graphical view] |
| Simple Modular Architecture Research Tool; a protein domain database<br/><a href='/database/97'>More..</a>SMARTi | SM00060. FN3. 3 hits. SM00409. IG. 7 hits. SM00408. IGc2. 1 hit. [Graphical view] |
| Superfamily database of structural and functional annotation<br/><a href='/database/155'>More..</a>SUPFAMi | SSF49265. SSF49265. 2 hits. |
| PROSITE; a protein domain and family database<br/><a href='/database/84'>More..</a>PROSITEi | PS50853. FN3. 3 hits. PS50835. IG_LIKE. 6 hits. [Graphical view] |
<p>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 length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (2)i
<p>Indicates if the canonical sequence displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 2<p>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><p><a href='../manual/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. Align
Isoform 1 (identifier: Q14896-1) [UniParc]FASTAAdd to BasketShow »
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.
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
Isoform 2 (identifier: Q14896-2) [UniParc]FASTAAdd to BasketShow »
The sequence of this isoform differs from the canonical sequence as follows:
408-409: SK → R
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
QEIQMSGRYI FESIGAKRTL TISQCSLADD AAYQCVVGGE KCSTELFVKE
460 470 480 490 500
PPVLITRPLE DQLVMVGQRV EFECEVSEEG AQVKWLKDGV ELTREETFKY
510 520 530 540 550
RFKKDGQRHH LIINEAMLED AGHYALCTSG GQALAELIVQ EKKLEVYQSI
560 570 580 590 600
ADLMVGAKDQ AVFKCEVSDE NVRGVWLKNG KELVPDSRIK VSHIGRVHKL
610 620 630 640 650
TIDDVTPADE ADYSFVPEGF ACNLSAKLHF MEVKIDFVPR QEPPKIHLDC
660 670 680 690 700
PGRIPDTIVV VAGNKLRLDV PISGDPAPTV IWQKAITQGN KAPARPAPDA
710 720 730 740 750
PEDTGDSDEW VFDKKLLCET EGRVRVETTK DRSIFTVEGA EKEDEGVYTV
760 770 780 790 800
TVKNPVGEDQ VNLTVKVIDV PDAPAAPKIS NVGEDSCTVQ WEPPAYDGGQ
810 820 830 840 850
PILGYILERK KKKSYRWMRL NFDLIQELSH EARRMIEGVV YEMRVYAVNA
860 870 880 890 900
IGMSRPSPAS QPFMPIGPPS EPTHLAVEDV SDTTVSLKWR PPERVGAGGL
910 920 930 940 950
DGYSVEYCPE GCSEWVAALQ GLTEHTSILV KDLPTGARLL FRVRAHNMAG
960 970 980 990 1000
PGAPVTTTEP VTVQEILQRP RLQLPRHLRQ TIQKKVGEPV NLLIPFQGKP
1010 1020 1030 1040 1050
RPQVTWTKEG QPLAGEEVSI RNSPTDTILF IRAARRVHSG TYQVTVRIEN
1060 1070 1080 1090 1100
MEDKATLVLQ VVDKPSPPQD LRVTDAWGLN VALEWKPPQD VGNTELWGYT
1110 1120 1130 1140 1150
VQKADKKTME WFTVLEHYRR THCVVPELII GNGYYFRVFS QNMVGFSDRA
1160 1170 1180 1190 1200
ATTKEPVFIP RPGITYEPPN YKALDFSEAP SFTQPLVNRS VIAGYTAMLC
1210 1220 1230 1240 1250
CAVRGSPKPK ISWFKNGLDL GEDARFRMFS KQGVLTLEIR KPCPFDGGIY
1260 1270
VCRATNLQGE ARCECRLEVR VPQ
Length:1,273
Mass (Da):140,703
<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:iA23FC20A513F4920
Experimental Info
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>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><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti | 248 – 248 | 1 | D → E(PubMed:7744002)Curated | | ||
| <p>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><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti | 248 – 248 | 1 | D → E(PubMed:9048664)Curated | | ||
| <p>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><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti | 302 – 303 | 2 | RD → SS in AAR89909. 1 Publication
| | ||
| <p>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><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti | 536 – 536 | 1 | A → R in CAA58882. (PubMed:7744002)Curated | |
Natural variant
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 5 – 5 | 1 | G → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029390 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 59 – 59 | 1 | T → A in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029391 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 158 – 158 | 1 | V → M.3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs3729986 [ dbSNP | Ensembl ]. | | VAR_020085 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 161 – 161 | 1 | P → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029392 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 189 – 189 | 1 | V → I.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570052 [ dbSNP | Ensembl ]. | | VAR_020568 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 219 – 219 | 1 | V → L in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029393 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 228 – 228 | 1 | D → N in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029394 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 236 – 236 | 1 | S → G.6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs3729989 [ dbSNP | Ensembl ]. | | VAR_020086 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 237 – 237 | 1 | Y → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029395 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 256 – 256 | 1 | V → I in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029396 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 257 – 257 | 1 | H → P in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019889 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 258 – 258 | 1 | E → K in CMH4. 8 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019890 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 263 – 263 | 1 | G → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042740 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 272 – 272 | 1 | R → C in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070449 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 273 – 273 | 1 | R → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042741 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 278 – 278 | 1 | G → E in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs147315081 [ dbSNP | Ensembl ]. | | VAR_019891 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 279 – 279 | 1 | G → A in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019892 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 281 – 281 | 1 | R → Q.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570060 [ dbSNP | Ensembl ]. | | VAR_020569 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 282 – 282 | 1 | R → W in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029397 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 326 – 326 | 1 | R → Q.9 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs34580776 [ dbSNP | Ensembl ]. | | VAR_019893 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 336 – 336 | 1 | I → V in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070450 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 352 – 352 | 1 | L → P in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019894 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 382 – 382 | 1 | R → W.2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570076 [ dbSNP | Ensembl ]. | | VAR_020570 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 383 – 383 | 1 | L → V.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570077 [ dbSNP | Ensembl ]. | | VAR_020571 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 416 – 416 | 1 | G → S.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029398 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 417 – 417 | 1 | A → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042742 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 451 – 451 | 1 | E → Q in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_027879 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 458 – 458 | 1 | R → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029399 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 490 – 490 | 1 | G → R in CMH4, CMD1MM and LVNC10. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029400 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 490 – 490 | 1 | G → V in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070451 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 495 – 495 | 1 | R → G in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_045929 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 495 – 495 | 1 | R → Q in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_027880 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 502 – 502 | 1 | R → Q in CMH4. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_027881 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 502 – 502 | 1 | R → W in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019895 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 504 – 504 | 1 | Missing in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019896 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 507 – 507 | 1 | G → R in CMH4. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs35736435 [ dbSNP | Ensembl ]. | | VAR_029401 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 522 – 522 | 1 | A → T.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570082 [ dbSNP | Ensembl ]. | | VAR_020573 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 523 – 523 | 1 | G → W in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029402 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 542 – 542 | 1 | E → Q in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_003917 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 545 – 545 | 1 | L → M.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029403 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 566 – 566 | 1 | C → R in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029404 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 604 – 604 | 1 | D → V in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029405 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 605 – 605 | 1 | D → N in CMH4; unknown pathological significance. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029406 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 608 – 608 | 1 | P → L in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029407 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 654 – 654 | 1 | R → H in CMH4; as well folded and stable as the wild-type. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs1800565 [ dbSNP | Ensembl ]. | | VAR_003918 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 668 – 668 | 1 | R → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029408 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 668 – 668 | 1 | R → P in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029409 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 669 – 669 | 1 | L → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042743 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 733 – 733 | 1 | R → C in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029410 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 755 – 755 | 1 | N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_003919 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 759 – 759 | 1 | E → D in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_042744 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 770 – 770 | 1 | D → N in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs36211723 [ dbSNP | Ensembl ]. | | VAR_029411 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 792 – 792 | 1 | W → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029412 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 810 – 810 | 1 | R → H in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029413 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 811 – 811 | 1 | K → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019897 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 811 – 811 | 1 | Missing in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029414 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 813 – 813 | 1 | Missing in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029415 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 820 – 820 | 1 | R → Q in CMH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs2856655 [ dbSNP | Ensembl ]. | | VAR_029416 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 833 – 833 | 1 | A → T in CMH4 and CMD1MM. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029417 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 833 – 833 | 1 | A → V in CMH4. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs3729952 [ dbSNP | Ensembl ]. | | VAR_019898 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 834 – 834 | 1 | R → T in CMH4. | | VAR_029418 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 834 – 834 | 1 | R → W in CMH4; pathogenicity is uncertain. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029419 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 873 – 873 | 1 | P → H in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029420 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 873 – 873 | 1 | P → L in LVNC10. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070452 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 896 – 896 | 1 | V → M May act as a phenotype modifier in cardiomyopathy patients. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs35078470 [ dbSNP | Ensembl ]. | | VAR_019899 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 948 – 948 | 1 | N → T in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029421 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 957 – 957 | 1 | T → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070453 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 958 – 958 | 1 | T → I in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070454 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 998 – 998 | 1 | Q → E in CMH4; dbNP:11570112. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570112 [ dbSNP | Ensembl ]. | | VAR_020574 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 998 – 998 | 1 | Q → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029422 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1002 – 1002 | 1 | R → Q in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029423 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1002 – 1002 | 1 | R → W.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs3729799 [ dbSNP | Ensembl ]. | | VAR_029424 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1003 – 1003 | 1 | P → Q in CMH4. | | VAR_029425 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1028 – 1028 | 1 | T → S in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_045930 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1048 – 1048 | 1 | R → C.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11570113 [ dbSNP | Ensembl ]. | | VAR_020575 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1113 – 1113 | 1 | F → I in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029426 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1115 – 1115 | 1 | V → I in CMH4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029427 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1131 – 1131 | 1 | I → T in CMH4; unknown pathological significance. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_029428 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1155 – 1155 | 1 | Missing in CMH4. | | VAR_029429 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1194 – 1194 | 1 | A → T in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019900 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1248 – 1248 | 1 | G → R in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_045931 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1255 – 1255 | 1 | A → T in CMH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019901 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1264 – 1264 | 1 | C → F in CMD1MM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_070455 |
Alternative sequence
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei | 408 – 409 | 2 | SK → R in isoform 2. Curated | | VSP_047141 |
Sequence databases
|
Select the link destinations: EMBL nucleotide sequence database<br/><a href='/database/22'>More..</a>EMBLi GenBank nucleotide sequence database<br/><a href='/database/28'>More..</a>GenBanki DNA Data Bank of Japan; a nucleotide sequence database<br/><a href='/database/14'>More..</a>DDBJi Links Updated | X84075 mRNA. Translation: CAA58882.1. Y10129 Genomic DNA. Translation: CAA71216.1. U91629 Genomic DNA. Translation: AAC04620.1. AY518390 Genomic DNA. Translation: AAR89909.1. GU324918 Genomic DNA. Translation: ADL14489.1. AC090582 Genomic DNA. No translation available. BC136543 mRNA. Translation: AAI36544.1. BC136546 mRNA. Translation: AAI36547.1. BC142685 mRNA. Translation: AAI42686.1. BC151211 mRNA. Translation: AAI51212.1. S80778 mRNA. Translation: AAB35662.1. |
| The Consensus CDS (CCDS) project<br/><a href='/database/187'>More..</a>CCDSi | CCDS53621.1. [Q14896-1] |
| Protein sequence database of the Protein Information Resource<br/><a href='/database/78'>More..</a>PIRi | S55050. |
| NCBI Reference Sequences<br/><a href='/database/117'>More..</a>RefSeqi | NP_000247.2. NM_000256.3. [Q14896-1] |
| UniGene gene-oriented nucleotide sequence clusters<br/><a href='/database/107'>More..</a>UniGenei | Hs.524906. |
Genome annotation databases
| Ensembl eukaryotic genome annotation project<br/><a href='/database/23'>More..</a>Ensembli | ENST00000545968; ENSP00000442795; ENSG00000134571. [Q14896-1] |
| Database of genes from NCBI RefSeq genomes<br/><a href='/database/118'>More..</a>GeneIDi | 4607. |
| KEGG: Kyoto Encyclopedia of Genes and Genomes<br/><a href='/database/53'>More..</a>KEGGi | hsa:4607. |
| UCSC genome browser<br/><a href='/database/139'>More..</a>UCSCi | uc021qir.1. human. [Q14896-1] |
Polymorphism databases
| Domain mapping of disease mutations (DMDM)<br/><a href='/database/166'>More..</a>DMDMi | 425906074. |
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesi
| NIEHS-SNPs |
Sequence databases
|
Select the link destinations: EMBL nucleotide sequence database<br/><a href='/database/22'>More..</a>EMBLi GenBank nucleotide sequence database<br/><a href='/database/28'>More..</a>GenBanki DNA Data Bank of Japan; a nucleotide sequence database<br/><a href='/database/14'>More..</a>DDBJi Links Updated | X84075 mRNA. Translation: CAA58882.1. Y10129 Genomic DNA. Translation: CAA71216.1. U91629 Genomic DNA. Translation: AAC04620.1. AY518390 Genomic DNA. Translation: AAR89909.1. GU324918 Genomic DNA. Translation: ADL14489.1. AC090582 Genomic DNA. No translation available. BC136543 mRNA. Translation: AAI36544.1. BC136546 mRNA. Translation: AAI36547.1. BC142685 mRNA. Translation: AAI42686.1. BC151211 mRNA. Translation: AAI51212.1. S80778 mRNA. Translation: AAB35662.1. |
| The Consensus CDS (CCDS) project<br/><a href='/database/187'>More..</a>CCDSi | CCDS53621.1. [Q14896-1] |
| Protein sequence database of the Protein Information Resource<br/><a href='/database/78'>More..</a>PIRi | S55050. |
| NCBI Reference Sequences<br/><a href='/database/117'>More..</a>RefSeqi | NP_000247.2. NM_000256.3. [Q14896-1] |
| UniGene gene-oriented nucleotide sequence clusters<br/><a href='/database/107'>More..</a>UniGenei | Hs.524906. |
3D structure databases
|
Select the link destinations: Protein Data Bank Europe<br/><a href='/database/70'>More..</a>PDBei Protein Data Bank RCSB<br/><a href='/database/171'>More..</a>RCSB PDBi Protein Data Bank Japan<br/><a href='/database/172'>More..</a>PDBji Links Updated |
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase<br/><a href='/database/159'>More..</a>ProteinModelPortali | Q14896. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SWISS-MODEL Repository - a database of annotated 3D protein structure models<br/><a href='/database/98'>More..</a>SMRi | Q14896. Positions 2-96, 151-258, 319-353, 358-1168, 1181-1271. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Database of comparative protein structure models<br/><a href='/database/63'>More..</a>ModBasei | Search... | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| MobiDB: a database of protein disorder and mobility annotations<br/><a href='/database/183'>More..</a>MobiDBi | Search... |
Protein-protein interaction databases
| The Biological General Repository for Interaction Datasets (BioGrid)<br/><a href='/database/184'>More..</a>BioGridi | 110692. 10 interactions. |
| Protein interaction database and analysis system<br/><a href='/database/51'>More..</a>IntActi | Q14896. 3 interactions. |
| Molecular INTeraction database<br/><a href='/database/158'>More..</a>MINTi | MINT-6174801. |
| STRING: functional protein association networks<br/><a href='/database/141'>More..</a>STRINGi | 9606.ENSP00000382193. |
PTM databases
| Phosphorylation site database<br/><a href='/database/123'>More..</a>PhosphoSitei | Q14896. |
Polymorphism databases
| Domain mapping of disease mutations (DMDM)<br/><a href='/database/166'>More..</a>DMDMi | 425906074. |
2D gel databases
| UCD-2DPAGE | Q14896. |
Proteomic databases
| PaxDb, a database of protein abundance averages across all three domains of life.<br/><a href='/database/173'>More..</a>PaxDbi | Q14896. |
| PRoteomics IDEntifications database<br/><a href='/database/130'>More..</a>PRIDEi | Q14896. |
Protocols and materials databases
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
| Ensembl eukaryotic genome annotation project<br/><a href='/database/23'>More..</a>Ensembli | ENST00000545968; ENSP00000442795; ENSG00000134571. [Q14896-1] |
| Database of genes from NCBI RefSeq genomes<br/><a href='/database/118'>More..</a>GeneIDi | 4607. |
| KEGG: Kyoto Encyclopedia of Genes and Genomes<br/><a href='/database/53'>More..</a>KEGGi | hsa:4607. |
| UCSC genome browser<br/><a href='/database/139'>More..</a>UCSCi | uc021qir.1. human. [Q14896-1] |
Organism-specific databases
| Comparative Toxicogenomics Database<br/><a href='/database/140'>More..</a>CTDi | 4607. |
| GeneCards: human genes, protein and diseases<br/><a href='/database/30'>More..</a>GeneCardsi | GC11M049901. |
| GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.<br/><a href='/database/188'>More..</a>GeneReviewsi | MYBPC3. |
| Human Gene Nomenclature Database<br/><a href='/database/42'>More..</a>HGNCi | HGNC:7551. MYBPC3. |
| Human Protein Atlas<br/><a href='/database/46'>More..</a>HPAi | HPA040147. HPA043898. |
| Online Mendelian Inheritance in Man (OMIM)<br/><a href='/database/62'>More..</a>MIMi | 115197. phenotype. 600958. gene. 615396. phenotype. |
| neXtProt; the human protein knowledge platform<br/><a href='/database/161'>More..</a>neXtProti | NX_Q14896. |
| Orphanet; a database dedicated to information on rare diseases and orphan drugs<br/><a href='/database/68'>More..</a>Orphaneti | 154. Familial isolated dilated cardiomyopathy. 155. Familial isolated hypertrophic cardiomyopathy. 54260. Left ventricular noncompaction. |
| The Pharmacogenetics and Pharmacogenomics Knowledge Base<br/><a href='/database/74'>More..</a>PharmGKBi | PA31351. |
| GenAtlas: human gene database<br/><a href='/database/27'>More..</a>GenAtlasi | Search... |
Phylogenomic databases
| evolutionary genealogy of genes: Non-supervised Orthologous Groups<br/><a href='/database/152'>More..</a>eggNOGi | NOG12793. |
| GeneTree<br/><a href='/database/162'>More..</a>GeneTreei | ENSGT00760000119038. |
| The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms<br/><a href='/database/44'>More..</a>HOGENOMi | HOG000220906. |
| The HOVERGEN Database of Homologous Vertebrate Genes<br/><a href='/database/45'>More..</a>HOVERGENi | HBG052560. |
| InParanoid: Eukaryotic Ortholog Groups<br/><a href='/database/146'>More..</a>InParanoidi | Q14896. |
| KEGG Orthology (KO)<br/><a href='/database/164'>More..</a>KOi | K12568. |
| Identification of Orthologs from Complete Genome Data<br/><a href='/database/137'>More..</a>OMAi | RVFSHNM. |
| Database of Orthologous Groups<br/><a href='/database/143'>More..</a>OrthoDBi | EOG7WX07H. |
| TreeFam database of animal gene trees<br/><a href='/database/185'>More..</a>TreeFami | TF351819. |
Enzyme and pathway databases
| Reactome - a knowledgebase of biological pathways and processes<br/><a href='/database/88'>More..</a>Reactomei | REACT_16969. Striated Muscle Contraction. |
Miscellaneous databases
| ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data.<br/><a href='/database/176'>More..</a>ChiTaRSi | MYBPC3. human. |
| Relative evolutionary importance of amino acids within a protein sequence.<br/><a href='/database/168'>More..</a>EvolutionaryTracei | Q14896. |
| GeneWiki<br/><a href='/database/180'>More..</a>GeneWikii | Myosin_binding_protein_C,_cardiac. |
| Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens.<br/><a href='/database/169'>More..</a>GenomeRNAii | 4607. |
| NextBio gene-centric data for human, mouse, rat, fly, worm and yeast<br/><a href='/database/128'>More..</a>NextBioi | 17732. |
| Protein Ontology<br/><a href='/database/181'>More..</a>PROi | Q14896. |
| The Stanford Online Universal Resource for Clones and ESTs<br/><a href='/database/99'>More..</a>SOURCEi | Search... |
Gene expression databases
| Bgee dataBase for Gene Expression Evolution<br/><a href='/database/133'>More..</a>Bgeei | Q14896. |
| CleanEx database of gene expression profiles<br/><a href='/database/8'>More..</a>CleanExi | HS_MYBPC3. |
| ExpressionAtlas, Differential and Baseline Expression<br/><a href='/database/4'>More..</a>ExpressionAtlasi | Q14896. baseline and differential. |
| Genevestigator<br/><a href='/database/142'>More..</a>Genevestigatori | Q14896. |
Family and domain databases
| Gene3D Structural and Functional Annotation of Protein Families<br/><a href='/database/29'>More..</a>Gene3Di | 2.60.40.10. 11 hits. |
| Integrated resource of protein families, domains and functional sites<br/><a href='/database/52'>More..</a>InterProi | IPR003961. FN3_dom. IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. [Graphical view] |
| Pfam protein domain database<br/><a href='/database/73'>More..</a>Pfami | PF00041. fn3. 3 hits. PF07679. I-set. 8 hits. [Graphical view] |
| Simple Modular Architecture Research Tool; a protein domain database<br/><a href='/database/97'>More..</a>SMARTi | SM00060. FN3. 3 hits. SM00409. IG. 7 hits. SM00408. IGc2. 1 hit. [Graphical view] |
| Superfamily database of structural and functional annotation<br/><a href='/database/155'>More..</a>SUPFAMi | SSF49265. SSF49265. 2 hits. |
| PROSITE; a protein domain and family database<br/><a href='/database/84'>More..</a>PROSITEi | PS50853. FN3. 3 hits. PS50835. IG_LIKE. 6 hits. [Graphical view] |
| ProtoNet; Automatic hierarchical classification of proteins<br/><a href='/database/85'>More..</a>ProtoNeti | Search... |
<p>Contains the literature citations that are the sources of data used to annotate the entry. Each reference is numbered and contains several subsections allowing a precise description of a given citation.</p><p><a href='../manual/publications_section' target='_top'>More...</a></p>Publicationsi
- "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?"
Gautel M., Zuffardi O., Freiburg A., Labeit S.
EMBO J. 14:1952-1960(1995) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMH4 GLN-820.Tissue: Heart. - "Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy."
Carrier L.,