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Protein Ontology Report - hTGFBR2/var:L308P

PR:000000050 - http://purl.obolibrary.org/obo/PR_000000050
Ontology Information
PRO ID PR:000000050 Show OBO stanza / PAF / GPI
PRO name TGF-beta receptor type-2 sequence variant L308P (human)
Synonyms
PRO-short-label: EXACT: hTGFBR2/var:L308P
PRO-proteoform-std: 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     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:000000050
hTGFBR2/var:L308P
Leu-308, CHEBI:50342
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15235604
enables NOT GO:0005026 transforming growth factor beta receptor activity, type II PMID:15235604

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