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Protein Ontology report - TGF-beta receptor type-2 sequence variant S449F (human)
PR:000000064 - http://purl.obolibrary.org/obo/PR_000000064
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000064   
  PRO nameTGF-beta receptor type-2 sequence variant S449F (human) 
  Synonyms
PRO-Short-label: EXACT:hTGFBR2/var:S449F
PRO-proteoform-std: EXACT:UniProtKB:P37173, Ser-449, CHEBI:29997
NARROW:UniProtKB:P37173-1, Ser-449, CHEBI:29997
Other: EXACT:TGF-beta receptor type-2 sequence variant 8 (human)
  Definition"A TGF-beta receptor type-2 (human) that has a Phe residue at the position equivalent to Ser-449 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Ser-449, CHEBI:29997." [PMID:15235604, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:P37173 TGF-beta receptor type-2 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_022358
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000064 hTGFBR2/var:S449F
UniProtKB:P37173, Ser-449, CHEBI:29997 | UniProtKB:P37173-1, Ser-449, CHEBI:29997 | TGF-beta receptor type-2 sequence variant 8 (human)
"A TGF-beta receptor type-2 (human) that has a Phe residue at the position equivalent to Ser-449 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Ser-449, CHEBI:29997." [PMID:15235604, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:15235604
enablesNOT GO:0005026 transforming growth factor beta receptor activity, type II PMID:15235604