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Protein Ontology Report - hTGFBR1/var:T200I

PR:000000186 - http://purl.obolibrary.org/obo/PR_000000186
Ontology Information
PRO ID PR:000000186 Show OBO stanza / PAF
PRO name TGF-beta receptor type-1 sequence variant T200I (human)
Synonyms
PRO-short-label: hTGFBR1/var:T200I
EXACT: TGF-beta receptor type-1 sequence variant 1 (human)
PRO-proteoform-std: UniProtKB:P36897, Thr-200, CHEBI:30009; UniProtKB:P36897-1, Thr-200, CHEBI:30009
Definition A TGF-beta receptor type-1 (human) that has an Ile residue at the position equivalent to Thr-200 of the amino acid sequence represented by UniProtKB:P36897. UniProtKB:P36897, Thr-200, CHEBI:30009. [PMID:15731757, 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:000000186
hTGFBR1/var:T200I
Thr-200, CHEBI:30009
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757

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