{ "uniprot_canonical_ac": "A0A0G2JY53-1", "uniprot_ac": "A0A0G2JY53", "uniprot_id": "A0A0G2JY53_RAT", "mass": { "chemical_mass": 221057.0, "monoisotopic_mass": 221057.0 }, "refseq": {}, "gene_names": [ { "name": "Myh15", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53", "id": "A0A0G2JY53" } ], "protein_names": [ { "name": "Myosin, heavy chain 15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JY53" } ], "function": [], "disease": [ { "disease_id": "DOID:0050646", "recommended_name": { "id": "DOID:0050646", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet." }, "synonyms": [ { "id": "DOID:0050646", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050646", "name": "Arthrogryposis Multiplex Congenita", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis multiplex congenita", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "AMC", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "DA1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis multiplex congenita, distal, type 1", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 2B4", "description": "" }, { "id": "MIM:108120", "resource": "MIM", "url": "https://www.omim.org/entry/108120", "name": "Arthrogryposis, distal, 1A", "description": "Arthrogryposis, distal, 1A" } ], "evidence": [ { "id": "0050646", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ] }, { "disease_id": "DOID:0050700", "recommended_name": { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." }, "synonyms": [ { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "Cardiomyopathies", "description": "" } ], "evidence": [ { "id": "0050700", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "evidence": [ { "id": "0080326", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ] }, { "disease_id": "DOID:0080719", "recommended_name": { "id": "DOID:0080719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080719", "name": "congenital myopathy 6", "description": "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13." }, "synonyms": [ { "id": "DOID:0080719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080719", "name": "inclusion body myopathy 3", "description": "" }, { "id": "DOID:0080719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080719", "name": "proximal myopathy and ophthalmoplegia", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "myopathy, proximal, and ophthalmoplegia", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "myopathy, proximal, and ophthalmoplegia", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "proximal myopathy and ophthalmoplegia", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "MYOPATHY, proximal, and ophthalmoplegia", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "MYPOP", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "inclusion body myopathy 3, autosomal dominant", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "inclusion body myopathy 3, autosomal dominant, formerly", "description": "" }, { "id": "MONDO:0011577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011577", "name": "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles", "description": "" }, { "id": "MIM:605637", "resource": "MIM", "url": "https://www.omim.org/entry/605637", "name": "Congenital myopathy 6 with ophthalmoplegia", "description": "Congenital myopathy 6 with ophthalmoplegia" } ], "evidence": [ { "id": "0080719", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080719" } ] }, { "disease_id": "DOID:0110454", "recommended_name": { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy 1S", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "MYH7 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "familial isolated dilated cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy-1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "left ventricular noncompaction 5", "description": "" }, { "id": "MIM:613426", "resource": "MIM", "url": "https://www.omim.org/entry/613426", "name": "Cardiomyopathy, dilated, 1S", "description": "Cardiomyopathy, dilated, 1S" } ], "evidence": [ { "id": "0110454", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110454" } ] }, { "disease_id": "DOID:0111269", "recommended_name": { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "MSMA", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "Myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "myopathy with lysis of type I myofibrils", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "congenital myopathy 7A", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal myopathy, MYH7-related", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal syndrome, myopathic type", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal myopathy, MYH7-related", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal syndrome, myopathic type", "description": "" }, { "id": "MIM:608358", "resource": "MIM", "url": "https://www.omim.org/entry/608358", "name": "Congenital myopathy 7A, myosin storage, autosomal dominant", "description": "Congenital myopathy 7A, myosin storage, autosomal dominant" } ], "evidence": [ { "id": "0111269", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111269" } ] }, { "disease_id": "DOID:0111596", "recommended_name": { "id": "DOID:0111596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111596", "name": "distal arthrogryposis type 1", "description": "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies." }, "synonyms": [ { "id": "DOID:0111596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111596", "name": "DA1", "description": "" }, { "id": "DOID:0111596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111596", "name": "digitotalar dysmorphism", "description": "" }, { "id": "MONDO:0007458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007458", "name": "digitotalar dysmorphism; ulnar drift, hereditary", "description": "" }, { "id": "MONDO:0007458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007458", "name": "digitotalar dysmorphism", "description": "" }, { "id": "MONDO:0007458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007458", "name": "ulnar drift, hereditary", "description": "" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "disease_id": "DOID:0111602", "recommended_name": { "id": "DOID:0111602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111602", "name": "distal arthrogryposis type 2B3", "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111602", "name": "DA2B3", "description": "" }, { "id": "DOID:0111602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111602", "name": "distal arthrogryposis type 2B3 (Sheldon-Hall)", "description": "" }, { "id": "MONDO:0032751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032751", "name": "arthrogryposis, distal, type 2B3", "description": "" }, { "id": "MONDO:0032751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032751", "name": "DA2B3", "description": "" }, { "id": "MONDO:0032751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032751", "name": "arthrogryposis, distal, type 2B3", "description": "" }, { "id": "MONDO:0032751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032751", "name": "arthrogryposis, distal, type 2B3 (Sheldon-Hall)", "description": "" }, { "id": "MONDO:0032751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032751", "name": "distal arthrogryposis type 2B3 (Sheldon-Hall)", "description": "" }, { "id": "MIM:618436", "resource": "MIM", "url": "https://www.omim.org/entry/618436", "name": "Arthrogryposis, distal, 2B3", "description": "Arthrogryposis, distal, 2B3" } ], "evidence": [ { "id": "0111602", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111602" } ] }, { "disease_id": "DOID:0111605", "recommended_name": { "id": "DOID:0111605", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111605", "name": "distal arthrogryposis type 2A", "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111605", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111605", "name": "DA2A", "description": "" }, { "id": "DOID:0111605", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111605", "name": "distal arthrogryposis type 2A (Freeman-Sheldon)", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "Freeman-Sheldon syndrome", "description": "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "Craniocarpotarsal dysplasia", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "Craniocarpotarsal dystrophy", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "Freeman Sheldon syndrome", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "Freeman-Sheldon syndrome", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "arthrogryposis, distal, type 2A (Freeman-Sheldon)", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "cranio-carpo-tarsal syndrome", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "craniocarpotarsal dysplasia", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "craniocarpotarsal dystrophy", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "distal arthrogryposis type 2A", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "whistling face syndrome", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "whistling face-windmill vane hand syndrome", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "whistling-face syndrome", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "windmill-vane-hand syndrome", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "DA2A", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "FSS", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "arthrogryposis distal type 2A", "description": "" }, { "id": "MONDO:0008675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "name": "arthrogryposis, distal, type 2A", "description": "" }, { "id": "MIM:193700", "resource": "MIM", "url": "https://www.omim.org/entry/193700", "name": "Arthrogryposis, distal, 2A", "description": "Arthrogryposis, distal, 2A" } ], "evidence": [ { "id": "0111605", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111605" } ] }, { "disease_id": "DOID:11720", "recommended_name": { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." }, "synonyms": [ { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "Miyoshi muscular dystrophy", "description": "" }, { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal muscular dystrophy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ], "evidence": [ { "id": "11720", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:2106", "recommended_name": { "id": "DOID:2106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2106", "name": "myotonia congenita", "description": "A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres." }, "synonyms": [ { "id": "DOID:2106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2106", "name": "Thomsen and Becker disease", "description": "" }, { "id": "DOID:2106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2106", "name": "Batten Turner congenital myopathy", "description": "" } ], "evidence": [ { "id": "2106", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2106" } ] }, { "disease_id": "DOID:3429", "recommended_name": { "id": "DOID:3429", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle." }, "synonyms": [ { "id": "MONDO:0007827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "name": "inclusion body myositis", "description": "A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." }, { "id": "MONDO:0007827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "name": "IBM", "description": "" }, { "id": "MONDO:0007827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "name": "inclusion body myositis", "description": "" }, { "id": "MONDO:0007827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "name": "sIBM", "description": "" }, { "id": "MONDO:0007827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "name": "sporadic inclusion body myositis", "description": "" }, { "id": "MONDO:0007827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "name": "Ibm", "description": "" }, { "id": "MONDO:0007827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "name": "inflammatory myopathy", "description": "" } ], "evidence": [ { "id": "3429", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ] }, { "disease_id": "DOID:397", "recommended_name": { "id": "DOID:397", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium." }, "synonyms": [ { "id": "DOID:397", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:397", "name": "Cardiomyopathy, constrictive", "description": "" }, { "id": "DOID:397", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:397", "name": "primary restrictive cardiomyopathy", "description": "" }, { "id": "MONDO:0007270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "name": "cardiomyopathy, familial restrictive, 1", "description": "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." }, { "id": "MONDO:0007270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "name": "TNNI3 familial isolated restrictive cardiomyopathy", "description": "" }, { "id": "MONDO:0007270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "name": "cardiomyopathy, familial restrictive, 1", "description": "" }, { "id": "MONDO:0007270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "name": "cardiomyopathy, familial restrictive, type 1", "description": "" }, { "id": "MONDO:0007270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "name": "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3", "description": "" }, { "id": "MONDO:0007270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "name": "RCM1", "description": "" }, { "id": "MONDO:0007270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "name": "Rcm", "description": "" }, { "id": "MIM:115210", "resource": "MIM", "url": "https://www.omim.org/entry/115210", "name": "Cardiomyopathy, familial restrictive 1", "description": "Cardiomyopathy, familial restrictive 1" } ], "evidence": [ { "id": "397", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:397" } ] }, { "disease_id": "DOID:423", "recommended_name": { "id": "DOID:423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." }, "synonyms": [], "evidence": [ { "id": "423", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:423" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "common_name": "Rat" } ], "gene": [ { "name": "Myh15", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53", "locus": { "chromosome": "11", "start_pos": 51622413, "end_pos": 51762971, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000061038", "url": "https://www.ensembl.org/id/ENSRNOG00000061038" } ] } } ], "crossref": [ { "id": "IPR000048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001609", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001609", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002928", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002928", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004009", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004009", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014751", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014751", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "RKQQCAI", "url": "https://omabrowser.org/oma/group/RKQQCAI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR45615", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45615", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45615:SF26", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45615:SF26", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00063", "url": "http://pfam.xfam.org/family/PF00063", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01576", "url": "http://pfam.xfam.org/family/PF01576", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02736", "url": "http://pfam.xfam.org/family/PF02736", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "1565858", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1565858", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JY53-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDLSEFGDAAAFLRRNRAEPWFQPPAFDGKKKCWVPDGKNAYTEAEVKESSGDGHVIVETRDGESLRIREDEIQQMNPAELEMIEDLSMLLYINEGSVLHTLRKRYDHWMIYTYSGLFCVAINPYKWLPVYQKEVMAAYKRKRRSEAPPHIFAVANHAFQDMLRNGENQSILFTGESGSGKTVNTKMIIQYFATMAATSEPKKKLGNLEDQIVQMNPILEAFGNAKTLRNDNSSRFGKFIRMYFGVRGTLSFADIQIYFLEKSRVVYQQPGERNYHIFYQILSGKQELQDMLLVSTNPSDFHICSCGVVAVENLDDAKGFLATEKAIDVLGFLPDEKFGCYKLVGAIMHFGNLKFRQNPREEQLEADGTENADKAALLMGINASELLKGLIYPRIKVGNEYVTRSQNIQQVTYAVGALSKSIYERMFKWLVARMNQVLDAKVTSHFFIGILDITGFEILDYNSLEQLCINFTNEKLQQFFNQQLFVLEQEECRKEGLDWMSIDYGLDLQACIDLIEKPMGILSILEEECMLPKATDNTFKTKLFAHHFGKSAYFQKPTAPEKNFEVHFELAHYAGVVPYDISGWIGKNKELLNETVVALLQKSSNKVLASLFTNNTIAGSFGEKPRRKATSFQLITSLHKESINKLMADLKSTAPHFVRCINPNENKIPGVMDPFWVLQQLRCNGVLEGTRVCCKAFPIRMLYDDFKQRYCILNPRIFSKSKFVNIRKATEEVLALLEIDQSQYQCGVTKVFFKARILDRLEERRDEKISKVFTLFQARARGKLMRITFQKILEERDALALIQENIRAFIAVKTWPWMGLFFKVKPLAKSVGAGEEIAGLKEECAQLQKSLETSESQREELKTKQVSLVQERNDLLLQLQAEQETLANSEELCESLIKSKIELEAKIKELSRRVEEEEEINSELTARGRKLEDECSELKKEIYDLEAILAKSEKAKCAAEHKVRNLTEEVHSLHEDVSKLTRAMQAAQEAQQQTQEHLHIEEEKLSNVSKVNQKLSQQVDALEGDLERERKARMKCEREKHKLEGELKLNQEGAENLESSRQQLIEQLRKKEFEMGQMNSKVENEKNLVSQLQKTVKELQTQILNLKEELESERTIRAKVERERGDLAQDLEDLNERLEEAGGTSLAQMEITRQQEARFQKLRHDMEETTRHFEATSVSLKRRHAENVAELEGQVEHLQQVRQVLDQEKSDLQLQVDDLLTRVDQMARAKANAEKLCGLYERRLNEANTKLDEATQLAKDLTSQRTKLQNESGEFFKRLEEKEALISQLSREKSNLILQVEELRVQLEEESKSQSALAHALQSTKHDYDLLREQYEEEQEVKSELHRALSKGNKETVQWRTKYEHDAMQRTEDLEEAKKKLAIRLQEAAEAMEVSNAKNASLERARHRLQLELGDALSDLGKARSVAAALGQKQQHSDKALASWKQKQEEAQELLQASQKEARALSSEVLMLRQACEESNEAQETLKRQNQDLQERICCLTNQVREGIKNLTEVEKAKKLIEQEKTEIQARLEEAEGALERNESKILRFQLDLSEAKAELGRKLSEKEDEAGRLREKHQQALGSLQSSLDSEASSRIEATKMRKKIEGDLKEMEIQLCTANRQVSQTTRALGQLQSQMKDLQQHLDDSIYQNKDLKDQVALAEQRNILLQSELEELRSLQEQTERGRKLAEKELLEATERISLFHTQNASLLSQKKKLEADVAQAQKEAGEMLQACQKAEEKAKKTAAEAANMWEELKKEQDTNAHLERTRKNMEQTIKDLQKRLDEAEQTAVVGSKKQIQKLESRVRDLEGELESEVRRSAEAQREARRLERGIKELTYQAEEDKKNLSRMQALSDKLQLKVQSYKQQVEAVEAQANQYLSKYKKQQHELNEAKERAEAAESQVNKLRARAKELERKVREE", "length": 1922, "header": "tr|A0A0G2JY53-1|A0A0G2JY53_RAT Isoform 1 of Myosin, heavy chain 15 OS=Rattus norvegicus OX=10116 GN=Myh15 PE=3 SV=2 CANONICAL=A0A0G2JY53-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JY53-1", "url": "", "sequence": { "sequence": "MDLSEFGDAAAFLRRNRAEPWFQPPAFDGKKKCWVPDGKNAYTEAEVKESSGDGHVIVETRDGESLRIREDEIQQMNPAELEMIEDLSMLLYINEGSVLHTLRKRYDHWMIYTYSGLFCVAINPYKWLPVYQKEVMAAYKRKRRSEAPPHIFAVANHAFQDMLRNGENQSILFTGESGSGKTVNTKMIIQYFATMAATSEPKKKLGNLEDQIVQMNPILEAFGNAKTLRNDNSSRFGKFIRMYFGVRGTLSFADIQIYFLEKSRVVYQQPGERNYHIFYQILSGKQELQDMLLVSTNPSDFHICSCGVVAVENLDDAKGFLATEKAIDVLGFLPDEKFGCYKLVGAIMHFGNLKFRQNPREEQLEADGTENADKAALLMGINASELLKGLIYPRIKVGNEYVTRSQNIQQVTYAVGALSKSIYERMFKWLVARMNQVLDAKVTSHFFIGILDITGFEILDYNSLEQLCINFTNEKLQQFFNQQLFVLEQEECRKEGLDWMSIDYGLDLQACIDLIEKPMGILSILEEECMLPKATDNTFKTKLFAHHFGKSAYFQKPTAPEKNFEVHFELAHYAGVVPYDISGWIGKNKELLNETVVALLQKSSNKVLASLFTNNTIAGSFGEKPRRKATSFQLITSLHKESINKLMADLKSTAPHFVRCINPNENKIPGVMDPFWVLQQLRCNGVLEGTRVCCKAFPIRMLYDDFKQRYCILNPRIFSKSKFVNIRKATEEVLALLEIDQSQYQCGVTKVFFKARILDRLEERRDEKISKVFTLFQARARGKLMRITFQKILEERDALALIQENIRAFIAVKTWPWMGLFFKVKPLAKSVGAGEEIAGLKEECAQLQKSLETSESQREELKTKQVSLVQERNDLLLQLQAEQETLANSEELCESLIKSKIELEAKIKELSRRVEEEEEINSELTARGRKLEDECSELKKEIYDLEAILAKSEKAKCAAEHKVRNLTEEVHSLHEDVSKLTRAMQAAQEAQQQTQEHLHIEEEKLSNVSKVNQKLSQQVDALEGDLERERKARMKCEREKHKLEGELKLNQEGAENLESSRQQLIEQLRKKEFEMGQMNSKVENEKNLVSQLQKTVKELQTQILNLKEELESERTIRAKVERERGDLAQDLEDLNERLEEAGGTSLAQMEITRQQEARFQKLRHDMEETTRHFEATSVSLKRRHAENVAELEGQVEHLQQVRQVLDQEKSDLQLQVDDLLTRVDQMARAKANAEKLCGLYERRLNEANTKLDEATQLAKDLTSQRTKLQNESGEFFKRLEEKEALISQLSREKSNLILQVEELRVQLEEESKSQSALAHALQSTKHDYDLLREQYEEEQEVKSELHRALSKGNKETVQWRTKYEHDAMQRTEDLEEAKKKLAIRLQEAAEAMEVSNAKNASLERARHRLQLELGDALSDLGKARSVAAALGQKQQHSDKALASWKQKQEEAQELLQASQKEARALSSEVLMLRQACEESNEAQETLKRQNQDLQERICCLTNQVREGIKNLTEVEKAKKLIEQEKTEIQARLEEAEGALERNESKILRFQLDLSEAKAELGRKLSEKEDEAGRLREKHQQALGSLQSSLDSEASSRIEATKMRKKIEGDLKEMEIQLCTANRQVSQTTRALGQLQSQMKDLQQHLDDSIYQNKDLKDQVALAEQRNILLQSELEELRSLQEQTERGRKLAEKELLEATERISLFHTQNASLLSQKKKLEADVAQAQKEAGEMLQACQKAEEKAKKTAAEAANMWEELKKEQDTNAHLERTRKNMEQTIKDLQKRLDEAEQTAVVGSKKQIQKLESRVRDLEGELESEVRRSAEAQREARRLERGIKELTYQAEEDKKNLSRMQALSDKLQLKVQSYKQQVEAVEAQANQYLSKYKKQQHELNEAKERAEAAESQVNKLRARAKELERKVREE", "length": 1922, "header": "tr|A0A0G2JY53-1|A0A0G2JY53_RAT Isoform 1 of Myosin, heavy chain 15 OS=Rattus norvegicus OX=10116 GN=Myh15 PE=3 SV=2 CANONICAL=A0A0G2JY53-1" }, "locus": { "chromosome": "11", "start_pos": 51762971, "end_pos": 51622413, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000090307.2", "url": "https://www.ensembl.org/id/ENSRNOT00000090307.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000070522.2", "url": "https://www.ensembl.org/id/ENSRNOP00000070522.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "pmid": "" }, { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "pmid": "" }, { "name": "myosin II complex", "id": "GO:0016460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016460", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "extraocular skeletal muscle development", "id": "GO:0002074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002074", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JY53", "url": "https://www.uniprot.org/uniprot/A0A0G2JY53" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1007, "end_pos": 1009, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1270, "end_pos": 1272, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1399, "end_pos": 1401, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1510, "end_pos": 1512, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1542, "end_pos": 1544, "annotation": "n_glycosylation_sequon" }, { "start_pos": 168, "end_pos": 170, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1708, "end_pos": 1710, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1848, "end_pos": 1850, "annotation": "n_glycosylation_sequon" }, { "start_pos": 232, "end_pos": 234, "annotation": "n_glycosylation_sequon" }, { "start_pos": 382, "end_pos": 384, "annotation": "n_glycosylation_sequon" }, { "start_pos": 470, "end_pos": 472, "annotation": "n_glycosylation_sequon" }, { "start_pos": 593, "end_pos": 595, "annotation": "n_glycosylation_sequon" }, { "start_pos": 614, "end_pos": 616, "annotation": "n_glycosylation_sequon" }, { "start_pos": 965, "end_pos": 967, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": 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