PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000000064 TGF-beta receptor type-2 sequence variant S449F (human) hTGFBR2/var:S449F|TGF-beta receptor type-2 sequence variant 8 (human)|UniProtKB:P37173-1, Ser-449, CHEBI:29997 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15235604 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022358 20080301 PRO:CNA PR:000000064 TGF-beta receptor type-2 sequence variant S449F (human) hTGFBR2/var:S449F|TGF-beta receptor type-2 sequence variant 8 (human)|UniProtKB:P37173-1, Ser-449, CHEBI:29997 NOT enables GO:0005026 transforming growth factor beta receptor activity, type II PMID:15235604 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022358 20080301 PRO:CNA