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Protein Ontology Report - hTGFBR2/var:R460H

PR:000000051 - http://purl.obolibrary.org/obo/PR_000000051
Ontology Information
PRO ID PR:000000051 Show OBO stanza / PAF / GPI
PRO name TGF-beta receptor type-2 sequence variant R460H (human)
Synonyms
PRO-short-label: EXACT: hTGFBR2/var:R460H
PRO-proteoform-std: NARROW: UniProtKB:P37173-1, Arg-460, CHEBI:29979
Other: EXACT: TGF-beta receptor type-2 sequence variant 10 (human)
Definition A TGF-beta receptor type-2 (human) that has a His residue at the position equivalent to Arg-460 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Arg-460, CHEBI:29979. [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     Cytoscape


Interactive Sequence View Select/align proteoforms across species

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

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000051
hTGFBR2/var:R460H
Arg-460, CHEBI:29979
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757

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