{ "uniprot_canonical_ac": "A4D2P6-1", "ptm_annotation": [], "sequence": { "header": "sp|A4D2P6-1|GRD2I_HUMAN Isoform 1 of Delphilin OS=Homo sapiens OX=9606 GN=GRID2IP PE=3 SV=2 CANONICAL=A4D2P6-1", "length": 1211, "sequence": "MATTATPATNQGWPEDFGFRLGGSGPCFVLEVAKGSSAHAGGLRPGDQILEVEGLAVGGLSRERLVRLARRCPRVPPSLGVLPAPDGGPGPGSGPAAPTTVLRAPRCGRGLALGRELLRLAGRKRPDAVHRERRRKAQEFSRKVDEILGDQPTAKEQVFAALKQFAAEQRVDDLVWTLTLALPREACGPLLDNLRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTAEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" }, "uniprot_id": "GRD2I_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "taxid": 9606, "name": "Homo sapiens", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6", "id": "A4D2P6", "database": "UniProtKB" } ] } ], "crossref_internal": { "gene": [ "GRID2IP" ], "species": [ 9606 ], "disease": [ "DOID:1324", "DOID:11054", "DOID:263", "DOID:9256", "DOID:2394", "DOID:1781", "DOID:1612", "DOID:10283", "DOID:3907", "DOID:3571", "DOID:3910", "DOID:5041" ], "site": [ "A4D2P6-1.652.652", "A4D2P6-1.56.56", "A4D2P6-1.862.862", "A4D2P6-1.331.333", "A4D2P6-1.221.221", "A4D2P6-1.1038.1040", "A4D2P6-1.523.523", "A4D2P6-1.655.655", "A4D2P6-1.902.904", "A4D2P6-1.872.872", "A4D2P6-1.1201.1201", "A4D2P6-1.1052.1054", "A4D2P6-1.720.720", "A4D2P6-1.7.7", "A4D2P6-1.461.461", "A4D2P6-1.286.288", "A4D2P6-1.204.204", "A4D2P6-1.19.19", "A4D2P6-1.621.621", "A4D2P6-1.20.20", "A4D2P6-1.804.804", "A4D2P6-1.51.51", "A4D2P6-1.580.580", "A4D2P6-1.166.166", "A4D2P6-1.564.566" ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/14612983", "type": [ "PubMed" ], "id": "14612983" } ], "title": "Identification and characterization of human GRID2IP gene and rat Grid2ip gene in silico.", "journal": "Int. J. Mol. Med.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6", "id": "A4D2P6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ], "authors": "Katoh M., Katoh M.'", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16835239", "type": [ "PubMed" ], "id": "16835239" } ], "title": "Characterization of the delta2 glutamate receptor-binding protein delphilin: splicing variants with differential palmitoylation and an additional PDZ domain.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6", "id": "A4D2P6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ], "authors": "Matsuda S., Matsuda K., Yuzaki M., Gladding C.M.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17027646", "type": [ "PubMed" ], "id": "17027646" } ], "title": "Binding of glutamate receptor delta2 to its scaffold protein, Delphilin, is regulated by PKA.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ], "authors": "Sonoda T, Mochizuki C, Yamashita T, Watanabe-Kaneko K, Miyagi Y, Shigeri Y, Yazama F, Okuda K, Kawamoto S", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29282276", "type": [ "PubMed" ], "id": "29282276" } ], "title": "The neuron-specific formin Delphilin nucleates nonmuscle actin but does not enhance elongation.", "journal": "Molecular biology of the cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ], "authors": "Silkworth WT, Kunes KL, Nickel GC, Phillips ML, Quinlan ME, Vizcarra CL", "date": "2018" } ], "uniprot_ac": "A4D2P6", "site_annotation": [ { "end_pos": 1040, "annotation": "n_glycosylation_sequon", "start_pos": 1038 }, { "end_pos": 1054, "annotation": "n_glycosylation_sequon", "start_pos": 1052 }, { "end_pos": 288, "annotation": "n_glycosylation_sequon", "start_pos": 286 }, { "end_pos": 333, "annotation": "n_glycosylation_sequon", "start_pos": 331 }, { "end_pos": 566, "annotation": "n_glycosylation_sequon", "start_pos": 564 }, { "end_pos": 904, "annotation": "n_glycosylation_sequon", "start_pos": 902 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6#A4D2P6-1", "isoform_ac": "A4D2P6-1", "sequence": { "header": "sp|A4D2P6-1|GRD2I_HUMAN Isoform 1 of Delphilin OS=Homo sapiens OX=9606 GN=GRID2IP PE=3 SV=2 CANONICAL=A4D2P6-1", "length": 1211, "sequence": "MATTATPATNQGWPEDFGFRLGGSGPCFVLEVAKGSSAHAGGLRPGDQILEVEGLAVGGLSRERLVRLARRCPRVPPSLGVLPAPDGGPGPGSGPAAPTTVLRAPRCGRGLALGRELLRLAGRKRPDAVHRERRRKAQEFSRKVDEILGDQPTAKEQVFAALKQFAAEQRVDDLVWTLTLALPREACGPLLDNLRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTAEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" }, "locus": { "chromosome": "7", "end_pos": 6497777, "start_pos": 6551436, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000457091", "id": "ENST00000457091", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000397351", "id": "ENSP00000397351", "database": "Ensembl Peptide" } ] } }, { "url": "https://www.uniprot.org/uniprot/A4D2P6#C9J5F6-1", "isoform_ac": "C9J5F6-1", "sequence": { "header": "tr|C9J5F6-1|GRD2I_HUMAN Computationally mapped isoform of Delphilin OS=Homo sapiens OX=9606 GN=GRID2IP PE=3 SV=1 CANONICAL=A4D2P6-1", "length": 1020, "sequence": "MSCLGIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" }, "locus": { "chromosome": "7", "end_pos": 6497777, "start_pos": 6536844, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000452113", "id": "ENST00000452113", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000397887", "id": "ENSP00000397887", "database": "Ensembl Peptide" } ] } }, { "url": "https://www.uniprot.org/uniprot/A4D2P6#C9JNS8-1", "isoform_ac": "C9JNS8-1", "sequence": { "header": "tr|C9JNS8-1|GRD2I_HUMAN Computationally mapped isoform of Delphilin OS=Homo sapiens OX=9606 GN=GRID2IP PE=3 SV=1 CANONICAL=A4D2P6-1", "length": 1027, "sequence": "MGKDQGFSRHFRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAALKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFFQHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKMGTVSKSRASPPGPSPAVTTGPRTLSGVSWPSERLLPSPCYHPLCSGGLASPSSSESHPYASLDSSRAPSPQPGPGPICPDSPPSPDPTRPPSRRKLFTFSHPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASDCISSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDAKPSSRSSDGSRGPAQALAKPLTQLSHPVPPPPPPPLPPPVPCAPPMLSRGLGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPAKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLSPAELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTSDLADLHGTISEIQDACQSISPSSEDKFAMVMSSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFAEFMSKFERALSDLQAGEGLRSSGMVSPLAW" }, "locus": { "chromosome": "7", "end_pos": 6497777, "start_pos": 6531102, "strand": "+", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000435185", "id": "ENST00000435185", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000408364", "id": "ENSP00000408364", "database": "Ensembl Peptide" } ] } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:392862", "resource": "KEGG Pathway", "id": "hsa:392862", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "annotation": "Delphilin is an actin nucleator that does not accelerate elongation. Delphilin exhibits a preference for actin isoforms, nucleating nonmuscle actin but not muscle actin.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "annotation": "Delphilin isoforms with differential palmitoylation and clustering capabilities may provide two separate intracellular and surface GluRdelta2 pools and may control GluRdelta2 signaling in Purkinje cells", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A4D2P6#function", "annotation": "Postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2P6#function", "id": "A4D2P6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "annotation": "Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590.1", "id": "NP_001138590.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1LU68-1", "protein_name": "Grid2-interacting protein", "sequence": { "length": 1024, "sequence": "MSCLGIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAAPRRPDEPPPRKAASLLGGRTGPGGPRRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPAENASLKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGPVPFASDSDSLDSPTRASALTSLQWVADILPSSIRVQGRTFSQQLDHLLTPPERYGVCRALESFFQHRSIDTLIVDVYPVLDTPAKQVLWQFLYQLLTYEEQELCQEKIACFLGYTAITEPESSLDLEPESTPEPTPEPQPRSSLRASSMCRRSLRSQGLEASLSCGPGDCSEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSGFKGKIGTVSKSRASPPVPSLVGTSGPRTLSGVSWPGDRLLPSPCYDPLCSGGLASPSSSESHPYASLDSSRAPSPQPGLGSIHPDSPPSPDPIRPPSRRKLFAFSRPVRSRDTDRFLDVLSEQLGPRVTIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASECVSSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDPKPSSRTSDGPRGPPQSLTKPLTQISHPVPPPPPPPLPPPVPCAPPMISRGVGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPPKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLTPGELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTVDLADLHDTVSEIQVACQSMVPSSEDRFAVVMTSFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFSEFMSKFERALSDLQAGDGPRSSGMVSPLAW" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4D2P6/", "id": "A4D2P6", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q0QWG9-1", "protein_name": "Delphilin", "sequence": { "length": 1203, "sequence": "MPATNQGWPEDFGFQLGGSGPCFVIEVAEGSSAHAGGLRPGDQILEVEGLAVGGLSRERIVRLARRCPRVPPSLGVLPGPEGGPTALTAAWLTRRFGRSLPLSRELLRLAGGPRPDAVHRERRRKAQEFSCQVDDILGDRLTAKEQVFTALKQFAAEQRVDELVWTLTLVLPSEAQGPVLDNLRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAAPRRPDEPPPRKATSLLGGRTGPGGPRRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPAENASLKSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGPVPFASDSDSLDSPTRASALTSLQWVADILPSSIRVQGRTFSQQLDHLLTPPERYGVCRALERFFQHRNIDTLIVDVYPVLDTPAKQVLWQFLYQLLTYEEQELCQEKIACFLGYTAMTEPESSLDLEPESTPEPTPEPQPRSSLRASSMCRRSLRSQGLETSLSCGPGDCPEMPLPLIPGERQAGDGTSLPETPNPKMMSAVYAELESRLNSSFKGKIGTMSKSRASPPVPSLVGTSGPRTLSGVSWPSDRLLPSPCYDPLCSGGLASPSSSESHPYASLDSSRAPSPQPGLGSIHADSPPSPDPIRPPSRRKLFAFSRPVRSRDTDRFLDALSEQLGPRLSIVDDFLTPENDYEEMSFHDDQGSFVTNERSSASECVSSSEEGSSLTYSSISDHIPPPPLSPPPPPPLPFHDPKPSSRTSDGPRGPPQSLTKPLTQINHPVPPPPPPPLPPPVPCAPPMLSRGVGHRRSETSHMSVKRLRWEQVENSEGTIWGQLGEDSDYDKLSDMVKYLDLELHFGTQKPPKPVPGPEPFRKKEVVEILSHKKAYNTSILLAHLKLTPGELRQVLMSMEPRRLEPAHLAQLLLFAPDADEEQRYQAFREAPGRLSEPDQFVLQMLSVPEYKTRLRSLHFQATLQEKTEEIRGSLECLRQASLELKNSRKLAKILEFVLAMGNYLNDGQPKTNKTTGFKINFLTELNSTKTVDGKSTFLHILAKSLSQHFPELLGFAQDLPTVPLAAKVNQRALTGDLADLHDTVSEIQVACQSMAPSSEDRFAVVMASFLETAQPALRALDGLQREAMEELGKALAFFGEDSKATTSEAFFGIFSEFMSKFERALSDLQAGDGPRSSGMVSPLAW" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/15781", "id": "15781", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "R", "subjects_tested": "93", "alt_nt": "T", "chr_id": "7", "ref_nt": "C", "chr_pos": "6537439", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "malignant Ovarian tumor" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "malignant tumour of ovary" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "ovarian neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "ovary neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "primary ovarian cancer" }, { "url": "http://disease-ontology.org/term/DOID:2394", "description": "", "resource": "Disease Ontology", "id": "DOID:2394", "name": "tumor of the Ovary" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "description": "A female reproductive organ cancer that is located_in the ovary.", "resource": "Disease Ontology", "id": "DOID:2394", "name": "ovarian cancer" } } ], "glycoeffect": [], "end_pos": 1201, "frequency": "1.1", "sequence_mut": "H", "start_pos": 1201, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2P6", "id": "A4D2P6", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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2-interacting protein 1" } ] }