{ "uniprot_canonical_ac": "O00555-8", "uniprot_ac": "O00555", "uniprot_id": "CAC1A_HUMAN", "mass": { "chemical_mass": 282564.0, "monoisotopic_mass": 282564.0 }, "refseq": { "ac": "NP_000059", "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1", "summary": "Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059" }, "gene_names": [ { "name": "CACNA1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00555", "id": "O00555" }, { "name": "APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2; EIEE42; FHM; HPCA; MHP; MHP1; SCA6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059", "id": "NP_000059" }, { "name": "CACH4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00555", "id": "O00555" }, { "name": "CACN3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00555", "id": "O00555" }, { "name": "CACNA1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059", "id": "NP_000059" }, { "name": "CACNL1A4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00555", "id": "O00555" } ], "protein_names": [ { "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00555" }, { "name": "BI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00555" }, { "name": "Brain calcium channel I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00555" }, { "name": "Calcium channel, L type, alpha-1 polypeptide isoform 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00555" }, { "name": "Voltage-gated calcium channel subunit alpha Cav2.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00555" }, { "name": "brain calcium channel 1; voltage-dependent P/Q-type calcium channel subunit alpha-1A; calcium channel, L type, alpha-1 polypeptide; fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit; brain calcium channel I; voltage-gated calcium channel subunit alpha Cav2.1; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059", "id": "NP_000059" }, { "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059", "id": "NP_000059" } ], "function": [ { "annotation": "Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.", "evidence": [ { "database": "RefSeq", "id": "NP_000059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059" }, { "database": "PubMed", "id": "38174495", "url": "https://glygen.org/publication/PubMed/38174495" } ] }, { "annotation": "CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059" }, { "database": "PubMed", "id": "36592223", "url": "https://glygen.org/publication/PubMed/36592223" } ] }, { "annotation": "High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_000059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059" }, { "database": "PubMed", "id": "37342032", "url": "https://glygen.org/publication/PubMed/37342032" } ] }, { "annotation": "Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059" } ] }, { "annotation": "Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP).", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555#function" }, { "database": "PubMed", "id": "26716990", "url": "https://glygen.org/publication/PubMed/26716990" }, { "database": "PubMed", "id": "19232643", "url": "https://glygen.org/publication/PubMed/19232643" }, { "database": "PubMed", "id": "24836863", "url": "https://glygen.org/publication/PubMed/24836863" }, { "database": "PubMed", "id": "15293273", "url": "https://glygen.org/publication/PubMed/15293273" }, { "database": "UniProtKB", "id": "P54282", "url": "https://www.uniprot.org/uniprot/P54282#function" }, { "database": "PubMed", "id": "10753886", "url": "https://glygen.org/publication/PubMed/10753886" }, { "database": "PubMed", "id": "10049321", "url": "https://glygen.org/publication/PubMed/10049321" }, { "database": "PubMed", "id": "11723274", "url": "https://glygen.org/publication/PubMed/11723274" } ] } ], "disease": [ { "disease_id": "DOID:0050956", "recommended_name": { "id": "DOID:0050956", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050956", "name": "spinocerebellar ataxia type 6", "description": "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene." }, "synonyms": [ { "id": "MONDO:0008457", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008457", "name": "spinocerebellar ataxia type 6", "description": "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." }, { "id": "MONDO:0008457", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008457", "name": "CACNA1A autosomal dominant cerebellar ataxia type III", "description": "" }, { "id": "MONDO:0008457", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008457", "name": "SCA6", "description": "" }, { "id": "MONDO:0008457", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008457", "name": "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A", "description": "" }, { "id": "MONDO:0008457", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008457", "name": "spinocerebellar ataxia type 6", "description": "" }, { "id": "MONDO:0008457", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008457", "name": "spinocerebellar ataxia 6", "description": "" }, { "id": "MIM:183086", "resource": "MIM", "url": "https://www.omim.org/entry/183086", "name": "Spinocerebellar ataxia 6", "description": "Spinocerebellar ataxia 6" } ], "evidence": [ { "id": "183086", "database": "MIM", "url": "https://www.omim.org/entry/183086" } ] }, { "disease_id": "DOID:0050990", "recommended_name": { "id": "DOID:0050990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050990", "name": "episodic ataxia type 2", "description": "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A." }, "synonyms": [ { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia type 2", "description": "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "CACNA1A hereditary episodic ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia type 2", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "hereditary episodic ataxia caused by mutation in CACNA1A", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "APCA", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Acetazolamide-responsive episodic ataxia syndrome", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "CAPA", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Cerebellopathy, hereditary paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "EA2", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Nystagmus-associated episodic ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "ataxia, episodic, with Nystagmus", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "ataxia, familial paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "ataxia, familial, paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia with nystagmus", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia, Nystagmus-associated", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia, type 2", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "familial paroxysmal ataxia", "description": "" }, { "id": "MIM:108500", "resource": "MIM", "url": "https://www.omim.org/entry/108500", "name": "Episodic ataxia 2", "description": "Episodic ataxia 2" } ], "evidence": [ { "id": "108500", "database": "MIM", "url": "https://www.omim.org/entry/108500" } ] }, { "disease_id": "DOID:0080454", "recommended_name": { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "developmental and epileptic encephalopathy 42", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "early infantile epileptic encephalopathy 42", "description": "" }, { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "DEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "developmental and epileptic encephalopathy, 42", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "CACNA1A early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "DEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "EIEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "developmental and epileptic encephalopathy 42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "early infantile epileptic encephalopathy caused by mutation in CACNA1A", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42; EIEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, type 42", "description": "" }, { "id": "MIM:617106", "resource": "MIM", "url": "https://www.omim.org/entry/617106", "name": "Developmental and epileptic encephalopathy 42", "description": "Developmental and epileptic encephalopathy 42" } ], "evidence": [ { "id": "617106", "database": "MIM", "url": "https://www.omim.org/entry/617106" } ] }, { "disease_id": "DOID:0111181", "recommended_name": { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111181", "name": "familial hemiplegic migraine 1", "description": "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13." }, "synonyms": [ { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111181", "name": "FHM1", "description": "" }, { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111181", "name": "MHP1", "description": "" }, { "id": "DOID:0111181", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111181", "name": "familial hemiplegic migraine1 with progressive cerebellar ataxia", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "FHM1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "MHP1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "familial hemiplegic migraine type 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "hemiplegic migraine, familial type 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic 1, with progressive cerebellar ataxia", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, familial hemiplegic, type 1", "description": "" }, { "id": "MONDO:0020756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020756", "name": "migraine, sporadic hemiplegic", "description": "" }, { "id": "MIM:141500", "resource": "MIM", "url": "https://www.omim.org/entry/141500", "name": "Migraine, familial hemiplegic, 1", "description": "Migraine, familial hemiplegic, 1" } ], "evidence": [ { "id": "141500", "database": "MIM", "url": "https://www.omim.org/entry/141500" } ] } ], "snv": [ { "evidence": [ { "id": "rs1600246766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1600246766" }, { "id": "rs1600246766", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1600246766" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1034, "end_pos": 1034, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQG->NQS).", "chr_id": "19", "chr_pos": "13286956", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1034", "disease": [ { "disease_id": "DOID:0080454", "recommended_name": { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "developmental and epileptic encephalopathy 42", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "early infantile epileptic encephalopathy 42", "description": "" }, { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "DEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "developmental and epileptic encephalopathy, 42", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "CACNA1A early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "DEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "EIEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "developmental and epileptic encephalopathy 42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "early infantile epileptic encephalopathy caused by mutation in CACNA1A", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42; EIEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, type 42", "description": "" }, { "id": "MIM:617106", "resource": "MIM", "url": "https://www.omim.org/entry/617106", "name": "Developmental and epileptic encephalopathy 42", "description": "Developmental and epileptic encephalopathy 42" } ] }, { "disease_id": "DOID:0050990", "recommended_name": { "id": "DOID:0050990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050990", "name": "episodic ataxia type 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"ataxia, familial, paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia with nystagmus", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia, Nystagmus-associated", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia, type 2", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "familial paroxysmal ataxia", "description": "" }, { "id": "MIM:108500", "resource": "MIM", "url": 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"http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": 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"id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42; EIEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, type 42", "description": "" }, { "id": "MIM:617106", "resource": "MIM", "url": "https://www.omim.org/entry/617106", "name": "Developmental and epileptic encephalopathy 42", "description": "Developmental and epileptic encephalopathy 42" } ] }, { "disease_id": "DOID:0050990", "recommended_name": { "id": "DOID:0050990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050990", "name": "episodic ataxia type 2", "description": "An 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"https://monarchinitiative.org/disease/MONDO:0007163", "name": "hereditary episodic ataxia caused by mutation in CACNA1A", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "APCA", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Acetazolamide-responsive episodic ataxia syndrome", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "CAPA", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Cerebellopathy, hereditary paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "EA2", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Nystagmus-associated episodic ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "ataxia, episodic, with Nystagmus", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "ataxia, familial paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "ataxia, familial, paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia with nystagmus", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia, Nystagmus-associated", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia, type 2", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "familial paroxysmal ataxia", "description": "" }, { "id": "MIM:108500", "resource": "MIM", "url": "https://www.omim.org/entry/108500", "name": "Episodic ataxia 2", "description": "Episodic ataxia 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1190681913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190681913" }, { "id": "rs1190681913", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1190681913" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 511, "end_pos": 511, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "19", "chr_pos": "13317136", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00555", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00555" } ], "glycoeffect": [], "start_pos": 671, "end_pos": 671, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13303860", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E671", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"n-glyco-sequon-gain" ], "start_pos": 708, "end_pos": 708, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVF->NVS).", "chr_id": "19", "chr_pos": "13303595", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F708", "disease": [ { "disease_id": "DOID:0080454", "recommended_name": { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "developmental and epileptic encephalopathy 42", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "early infantile epileptic encephalopathy 42", "description": "" }, { "id": "DOID:0080454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080454", "name": "DEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "developmental and epileptic encephalopathy, 42", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "CACNA1A early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "DEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "EIEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "developmental and epileptic encephalopathy 42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "early infantile epileptic encephalopathy caused by mutation in CACNA1A", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42; EIEE42", "description": "" }, { "id": "MONDO:0014917", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014917", "name": "epileptic encephalopathy, early infantile, type 42", "description": "" }, { "id": "MIM:617106", "resource": "MIM", "url": "https://www.omim.org/entry/617106", "name": "Developmental and epileptic encephalopathy 42", "description": "Developmental and epileptic encephalopathy 42" } ] }, { "disease_id": "DOID:0050990", "recommended_name": { "id": "DOID:0050990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050990", "name": "episodic ataxia type 2", "description": "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A." }, "synonyms": [ { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "episodic ataxia type 2", "description": "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." }, { "id": "MONDO:0007163", "resource": "MONDO", 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ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "CAPA", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Cerebellopathy, hereditary paroxysmal", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "EA2", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": "Nystagmus-associated episodic ataxia", "description": "" }, { "id": "MONDO:0007163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007163", "name": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00555", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00555" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "common_name": "Human" } ], "gene": [ { "name": "CACNA1A", "url": "https://www.uniprot.org/uniprot/O00555", "locus": { "chromosome": "19", "start_pos": 305019, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_7", "url": "https://www.ensembl.org/id/LRG_7" } ] } } ], "crossref": [ { "id": "ENSG00000141837", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141837", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00555", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00555", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL4266", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4266", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CACNA1A", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1A", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "773", "url": "https://www.ncbi.nlm.nih.gov/gene/773", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1388", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1388", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00555", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00555*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002077", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002077", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005448", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005448", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005821", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005821", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014873", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014873", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR031649", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031649", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:773", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:773", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "108500", "url": "http://www.omim.org/entry/108500", "database": "MIM", "categories": [ "Other" ] }, { "id": "141500", "url": "http://www.omim.org/entry/141500", "database": "MIM", "categories": [ "Other" ] }, { "id": "183086", "url": "http://www.omim.org/entry/183086", "database": "MIM", "categories": [ "Other" ] }, { "id": "601011", "url": "http://www.omim.org/entry/601011", "database": "MIM", "categories": [ "Other" ] }, { "id": "617106", "url": "http://www.omim.org/entry/617106", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00555", "url": "https://www.nextprot.org/entry/NX_O00555", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KRMCQHR", "url": "https://omabrowser.org/oma/group/KRMCQHR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1110761at2759", "url": "http://www.orthodb.org/?query=1110761at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45628", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45628", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45628:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45628:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3BXK", "url": "https://www.rcsb.org/structure/3BXK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00520", "url": "http://pfam.xfam.org/family/PF00520", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08763", "url": "http://pfam.xfam.org/family/PF08763", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16905", "url": "http://pfam.xfam.org/family/PF16905", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00555", "url": "https://pharos.nih.gov/targets/O00555", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00555", "url": "http://purl.obolibrary.org/obo/PR_O00555", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-112308", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112308", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000059", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "29671", "url": "https://www.rhea-db.org/rhea/29671", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00555-2", "url": "https://www.uniprot.org/uniprot/O00555-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00555-3", "url": "https://www.uniprot.org/uniprot/O00555-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00555-4", "url": "https://www.uniprot.org/uniprot/O00555-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00555-5", "url": "https://www.uniprot.org/uniprot/O00555-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00555-6", "url": "https://www.uniprot.org/uniprot/O00555-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00555-8", "url": "https://www.uniprot.org/uniprot/O00555-8", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC", "length": 2506, "header": "sp|O00555-8|CAC1A_HUMAN Isoform 8 of Voltage-dependent P/Q-type calcium channel subunit alpha-1A OS=Homo sapiens OX=9606 GN=CACNA1A PE=1 SV=3 CANONICAL=O00555-8" }, "isoforms": [ { "isoform_ac": "O00555-2", "url": "", "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKVEADEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNPNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQ", "length": 2266, "header": "sp|O00555-2|CAC1A_HUMAN Isoform 2 of Voltage-dependent P/Q-type calcium channel subunit alpha-1A OS=Homo sapiens OX=9606 GN=CACNA1A PE=1 SV=3 CANONICAL=O00555-8" }, "locus": { "chromosome": "19", "start_pos": 13506224, "end_pos": 13208756, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637432.1", "url": "https://www.ensembl.org/id/ENST00000637432.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490617.1", "url": "https://www.ensembl.org/id/ENSP00000490617.1" } ] } }, { "isoform_ac": "O00555-3", "url": "", "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAACGRIHYKDMYSLLRVISPPLGLGKKCPHRVACKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQ", "length": 2261, "header": "sp|O00555-3|CAC1A_HUMAN Isoform 3 of Voltage-dependent P/Q-type calcium channel subunit alpha-1A OS=Homo sapiens OX=9606 GN=CACNA1A PE=1 SV=3 CANONICAL=O00555-8" }, "locus": { "chromosome": "19", "start_pos": 13506224, "end_pos": 13208756, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638009.2", "url": "https://www.ensembl.org/id/ENST00000638009.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000489913.1", "url": "https://www.ensembl.org/id/ENSP00000489913.1" } ] } }, { "isoform_ac": "O00555-4", "url": "", "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAACGRIHYKDMYSLLRVISPPLGLGKKCPHRVACKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC", "length": 2505, "header": "sp|O00555-4|CAC1A_HUMAN Isoform 4 of Voltage-dependent P/Q-type calcium channel subunit alpha-1A OS=Homo sapiens OX=9606 GN=CACNA1A PE=1 SV=3 CANONICAL=O00555-8" }, "locus": {} }, { "isoform_ac": "O00555-5", "url": "", "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQ", "length": 2249, "header": "sp|O00555-5|CAC1A_HUMAN Isoform 5 of Voltage-dependent P/Q-type calcium channel subunit alpha-1A OS=Homo sapiens OX=9606 GN=CACNA1A PE=1 SV=3 CANONICAL=O00555-8" }, "locus": { "chromosome": "19", "start_pos": 13506224, "end_pos": 13208756, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637276.1", "url": "https://www.ensembl.org/id/ENST00000637276.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489777.1", "url": "https://www.ensembl.org/id/ENSP00000489777.1" } ] } }, { "isoform_ac": "O00555-6", "url": "", "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC", "length": 2493, "header": "sp|O00555-6|CAC1A_HUMAN Isoform 6 of Voltage-dependent P/Q-type calcium channel subunit alpha-1A OS=Homo sapiens OX=9606 GN=CACNA1A PE=1 SV=3 CANONICAL=O00555-8" }, "locus": {} }, { "isoform_ac": "O00555-8", "url": "", "sequence": { "sequence": "MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC", "length": 2506, "header": "sp|O00555-8|CAC1A_HUMAN Isoform 8 of Voltage-dependent P/Q-type calcium channel subunit alpha-1A OS=Homo sapiens OX=9606 GN=CACNA1A PE=1 SV=3 CANONICAL=O00555-8" }, "locus": { "chromosome": "19", "start_pos": 13506224, "end_pos": 13207316, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360228.11", "url": "https://www.ensembl.org/id/ENST00000360228.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000353362.5", "url": "https://www.ensembl.org/id/ENSP00000353362.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 283, "start_aa": "Asn", "end_pos": 283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn283", "evidence": [ { "id": "O00555", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00555#ptm_processing" }, { "id": "29470411", "database": 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"kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "site_lbl": "Ser749" }, { "start_pos": 752, "end_pos": 752, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "site_lbl": "Ser752" }, { "start_pos": 789, "end_pos": 789, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "site_lbl": "Ser789" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels.", "journal": "Biophysical journal", "date": "1999-03", "authors": "Hans M, Urrutia A, Deal C, Brust P F, Stauderman K, Ellis S B, Harpold M M, Johnson E C, Williams M E", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "10049321", "url": "https://glygen.org/publication/PubMed/10049321" } ] }, { "title": "The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells.", "journal": "Journal of molecular endocrinology", "date": "1999", "authors": "Miki T, Nagashima K, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10194514", "url": "https://glygen.org/publication/PubMed/10194514" } ] }, { "title": "Two regions of sulfonylurea receptor specify the spontaneous bursting and ATP inhibition of KATP channel isoforms.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Babenko AP, Gonzalez G, Bryan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10206966", "url": "https://glygen.org/publication/PubMed/10206966" } ] }, { "title": "Identification of the high-affinity tolbutamide site on the SUR1 subunit of the K(ATP) channel.", "journal": "Diabetes", "date": "1999", "authors": "Ashfield R, Gribble FM, Ashcroft SJ, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10342826", "url": "https://glygen.org/publication/PubMed/10342826" } ] }, { "title": "Genetic heterogeneity in Italian families with familial hemiplegic migraine.", "journal": "Neurology", "date": "1999", "authors": "Carrera P, Piatti M, Stenirri S, Grimaldi LM, Marchioni E, Curcio M, Righetti PG, Ferrari M, Gelfi C", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "10408532", "url": "https://glygen.org/publication/PubMed/10408532" } ] }, { "title": "A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.", "journal": "Neurology", "date": "1999", "authors": "Jen J, Yue Q, Nelson SF, Yu H, Litt M, Nutt J, Baloh RW", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "10408533", "url": "https://glygen.org/publication/PubMed/10408533" } ] }, { "title": "Immunohistochemical detection of alpha1E voltage-gated Ca(2+) channel isoforms in cerebellum, INS-1 cells, and neuroendocrine cells of the digestive system.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1999", "authors": "Grabsch H, Pereverzev A, Weiergraber M, Schramm M, Henry M, Vajna R, Beattie RE, Volsen SG, Klockner U, Hescheler J, Schneider T", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10424882", "url": "https://glygen.org/publication/PubMed/10424882" } ] }, { "title": "The tolbutamide site of SUR1 and a mechanism for its functional coupling to K(ATP) channel closure.", "journal": "FEBS letters", "date": "1999", "authors": "Babenko AP, Gonzalez G, Bryan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10526167", "url": "https://glygen.org/publication/PubMed/10526167" } ] }, { "title": "Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function.", "journal": "The Journal of biological chemistry", "date": "2000-04-14", "authors": "Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "10753886", "url": "https://glygen.org/publication/PubMed/10753886" } ] }, { "title": "Pancreatic beta-cell K(ATP) channel activity and membrane-binding studies with nateglinide: A comparison with sulfonylureas and repaglinide.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2000", "authors": "Hu S, Wang S, Fanelli B, Bell PA, Dunning BE, Geisse S, Schmitz R, Boettcher BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10773014", "url": "https://glygen.org/publication/PubMed/10773014" } ] }, { "title": "Sulfonylurea receptor 1 and Kir6.2 expression in the novel human insulin-secreting cell line NES2Y.", "journal": "Diabetes", "date": "2000", "authors": "Macfarlane WM, O'Brien RE, Barnes PD, Shepherd RM, Cosgrove KE, Lindley KJ, Aynsley-Green A, James RF, Docherty K, Dunne MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10866047", "url": "https://glygen.org/publication/PubMed/10866047" } ] }, { "title": "Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice.", "journal": "Diabetes", "date": "2000", "authors": "Seino S, Iwanaga T, Nagashima K, Miki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10868950", "url": "https://glygen.org/publication/PubMed/10868950" } ] }, { "title": "Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.", "journal": "Human genetics", "date": "1999", "authors": "Friend KL, Crimmins D, Phan TG, Sue CM, Colley A, Fung VS, Morris JG, Sutherland GR, Richards RI", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "10987655", "url": "https://glygen.org/publication/PubMed/10987655" } ] }, { "title": "Triggering and amplifying pathways of regulation of insulin secretion by glucose.", "journal": "Diabetes", "date": "2000", "authors": "Henquin JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11078440", "url": "https://glygen.org/publication/PubMed/11078440" } ] }, { "title": "Gliclazide modified release: from once-daily administration to 24-hour blood glucose control.", "journal": "Metabolism: clinical and experimental", "date": "2000", "authors": "Harrower A", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11078469", "url": "https://glygen.org/publication/PubMed/11078469" } ] }, { "title": "Missense CACNA1A mutation causing episodic ataxia type 2.", "journal": "Archives of neurology", "date": "2001", "authors": "Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "11176968", "url": "https://glygen.org/publication/PubMed/11176968" } ] }, { "title": "Effects of mitiglinide (S 21403) on Kir6.2/SUR1, Kir6.2/SUR2A and Kir6.2/SUR2B types of ATP-sensitive potassium channel.", "journal": "British journal of pharmacology", "date": "2001", "authors": "Reimann F, Proks P, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11264248", "url": "https://glygen.org/publication/PubMed/11264248" } ] }, { "title": "Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.", "journal": "Annals of neurology", "date": "2001", "authors": "Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "11409427", "url": "https://glygen.org/publication/PubMed/11409427" } ] }, { "title": "The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.", "journal": "The New England journal of medicine", "date": "2001", "authors": "Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "11439943", "url": "https://glygen.org/publication/PubMed/11439943" } ] }, { "title": "Repaglinide: a review of its therapeutic use in type 2 diabetes mellitus.", "journal": "Drugs", "date": "2001", "authors": "Culy CR, Jarvis B", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11577798", "url": "https://glygen.org/publication/PubMed/11577798" } ] }, { "title": "The effects of mitiglinide (KAD-1229), a new anti-diabetic drug, on ATP-sensitive K+ channels and insulin secretion: comparison with the sulfonylureas and 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Genet.", "date": "1995", "authors": "Margolis RL, Breschel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "8525433", "url": "https://glygen.org/publication/PubMed/8525433" } ] }, { "title": "Individual sulfonylureas and serious hypoglycemia in older people.", "journal": "Journal of the American Geriatrics Society", "date": "1996", "authors": "Shorr RI, Ray WA, Daugherty JR, Griffin MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8675920", "url": "https://glygen.org/publication/PubMed/8675920" } ] }, { "title": "Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.", "journal": "Genomics", "date": "1995", "authors": "Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM, Taviaux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-112308", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112308" } ], "reference": [ { "type": "PubMed", "id": "8825650", "url": "https://glygen.org/publication/PubMed/8825650" } ] }, { "title": "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.", "journal": "Cell", "date": "1996", "authors": "Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "8898206", "url": "https://glygen.org/publication/PubMed/8898206" } ] }, { "title": "Structure-function analysis of liver-type (GLUT2) and brain-type (GLUT3) glucose transporters: expression of chimeric transporters in Xenopus oocytes suggests an important role for putative transmembrane helix 7 in determining substrate selectivity.", "journal": "Biochemistry", "date": "1996", "authors": "Arbuckle MI, Kane S, Porter LM, Seatter MJ, Gould GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8987985", "url": "https://glygen.org/publication/PubMed/8987985" } ] }, { "title": "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.", "journal": "Nat. Genet.", "date": "1997", "authors": "Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton D W, Amos C, Dobyns W B, Subramony S H, Zoghbi H Y, Lee C C", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "8988170", "url": "https://glygen.org/publication/PubMed/8988170" } ] }, { "title": "Mechanisms of inhibition of insulin release.", "journal": "The American journal of physiology", "date": "1996", "authors": "Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "8997178", "url": "https://glygen.org/publication/PubMed/8997178" } ] }, { "title": "Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.", "journal": "Hum. Mol. Genet.", "date": "1997", "authors": "Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff R A, Frants R R, Frontali M", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "9302278", "url": "https://glygen.org/publication/PubMed/9302278" } ] }, { "title": "Progressive ataxia due to a missense mutation in a calcium-channel gene.", "journal": "American journal of human genetics", "date": "1997", "authors": "Yue Q, Jen JC, Nelson SF, Baloh RW", "evidence": [ { "database": "UniProtKB", "id": "O00555", "url": "https://www.uniprot.org/uniprot/O00555" } ], "reference": [ { "type": "PubMed", "id": "9345107", "url": "https://glygen.org/publication/PubMed/9345107" } ] }, { "title": "The interaction of nucleotides with the tolbutamide block of cloned ATP-sensitive K+ channel currents expressed in Xenopus oocytes: a 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