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Protein Ontology report - TGF-beta receptor type-2 sequence variant Y336N (human) PR:000000059 - http://purl.obolibrary.org/obo/PR_000000059        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000059      PRO name TGF-beta receptor type-2 sequence variant Y336N (human)    Synonyms PRO-Short-label: EXACT: hTGFBR2/var:Y336N PRO-proteoform-std: EXACT: UniProtKB:P37173, Tyr-336, CHEBI:50347 NARROW: UniProtKB:P37173-1, Tyr-336, CHEBI:50347 Other: EXACT: TGF-beta receptor type-2 sequence variant 3 (human)   Definition "A TGF-beta receptor type-2 (human) that has an Asn residue at the position equivalent to Tyr-336 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Tyr-336, CHEBI:50347." [PMID:15731757, 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_022352 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000059 hTGFBR2/var:Y336N UniProtKB:P37173, Tyr-336, CHEBI:50347 | UniProtKB:P37173-1, Tyr-336, CHEBI:50347 | TGF-beta receptor type-2 sequence variant 3 (human) "A TGF-beta receptor type-2 (human) that has an Asn residue at the position equivalent to Tyr-336 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Tyr-336, CHEBI:50347." [PMID:15731757, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:0050466 Loeys-Dietz syndrome PMID:15731757