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Protein Ontology Report - hTGFBR1/var:R487P

PR:000000194 - http://purl.obolibrary.org/obo/PR_000000194
Ontology Information
PRO ID PR:000000194 Show OBO stanza / PAF
PRO name TGF-beta receptor type-1 sequence variant R487P (human)
Synonyms
PRO-short-label: hTGFBR1/var:R487P
EXACT: TGF-beta receptor type-1 sequence variant 7 (human)
PRO-proteoform-std: UniProtKB:P36897-1, Arg-487, CHEBI:50342
Definition A TGF-beta receptor type-1 (human) that has a Pro residue at the position equivalent to Arg-487 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Arg-487, CHEBI:50342. [PMID:15731757, PMID:16928994, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P36897 TGF-beta receptor type-1 (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


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Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000194
hTGFBR1/var:R487P
Arg-487, CHEBI:50342
associated_with_disease_progression DOID:14756 vascular type Ehlers-Danlos syndrome PMID:15731757, PMID:16928994

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