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Protein Ontology report - serine/threonine-protein kinase receptor R3 sequence variant R479L (human) PR:000000351 - http://purl.obolibrary.org/obo/PR_000000351        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000351      PRO name serine/threonine-protein kinase receptor R3 sequence variant R479L (human)    Synonyms PRO-Short-label: EXACT: hACVRL1/var:R479L PRO-proteoform-std: EXACT: UniProtKB:P37023, Arg-479, CHEBI:30006 Other: EXACT: serine/threonine-protein kinase receptor R3 sequence variant 40 (human)   Definition "A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Arg-479 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-479, CHEBI:30006." [PMID:15024723, 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_026813 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000351 hACVRL1/var:R479L UniProtKB:P37023, Arg-479, CHEBI:30006 associated_with_disease_progression DO:1270 hereditary hemorrhagic telangiectasia PMID:15024723