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Protein Ontology report - TGF-beta receptor type-1 sequence variant R487W (human)
PR:000000196 - http://purl.obolibrary.org/obo/PR_000000196
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000196   
  PRO nameTGF-beta receptor type-1 sequence variant R487W (human) 
  Synonyms
PRO-Short-label: EXACT:hTGFBR1/var:R487W
PRO-proteoform-std: EXACT:UniProtKB:P36897, Arg-487, CHEBI:29954
NARROW:UniProtKB:P36897-1, Arg-487, CHEBI:29954
Other: EXACT:TGF-beta receptor type-1 sequence variant 9 (human)
  Definition"A TGF-beta receptor type-1 (human) that has a Trp 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:29954." [PMID:16928994, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:P36897 TGF-beta receptor type-1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_029485
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000196 hTGFBR1/var:R487W
UniProtKB:P36897, Arg-487, CHEBI:29954 | UniProtKB:P36897-1, Arg-487, CHEBI:29954 | TGF-beta receptor type-1 sequence variant 9 (human)
"A TGF-beta receptor type-1 (human) that has a Trp 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:29954." [PMID:16928994, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:14756 vascular type Ehlers-Danlos syndrome PMID:16928994