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Protein Ontology report - serine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human) PR:000000355 - http://purl.obolibrary.org/obo/PR_000000355        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000355      PRO name serine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human)    Synonyms PRO-Short-label: EXACT: hACVRL1/var:GA48/49EP PRO-proteoform-std: EXACT: UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217 Other: EXACT: serine/threonine-protein kinase receptor R3 sequence variant 44 (human)   Definition "A serine/threonine-protein kinase receptor R3 (human) that has Glu and Pro residues at positions equivalent to Gly-48 and Ala-49 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217." [PMID:10767348, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P37023 serine/threonine-protein kinase receptor R3 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_026784 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000355 hACVRL1/var:GA48/49EP UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217 | serine/threonine-protein kinase receptor R3 sequence variant 44 (human) "A serine/threonine-protein kinase receptor R3 (human) that has Glu and Pro residues at positions equivalent to Gly-48 and Ala-49 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217." [PMID:10767348, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026784