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Protein Ontology report - TGF-beta receptor type-2 sequence variant L308P (human) PR:000000050 - http://purl.obolibrary.org/obo/PR_000000050        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000050      PRO name TGF-beta receptor type-2 sequence variant L308P (human)    Synonyms PRO-Short-label: EXACT: hTGFBR2/var:L308P PRO-proteoform-std: EXACT: UniProtKB:P37173, Leu-308, CHEBI:50342 NARROW: UniProtKB:P37173-1, Leu-308, CHEBI:50342 Other: EXACT: TGF-beta receptor type-2 sequence variant 1 (human)   Definition "A TGF-beta receptor type-2 (human) that has a Pro residue at the position equivalent to Leu-308 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Leu-308, CHEBI:50342." [PMID:15235604, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P37173 TGF-beta receptor type-2 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_022351 Back to top Functional Annotation (GO-centric view) Switch to PRO Centric View       Disease Associated GO Term Protein Forms & Complexes Evidence DO:0050466 Loeys-Dietz syndrome PR:000000050 hTGFBR2/var:L308P PMID:15235604 Molecular Function GO Term Protein Forms & Complexes Evidence NOT GO:0005026 transforming growth factor beta receptor activity, type II PR:000000050 hTGFBR2/var:L308P PMID:15235604